Kratom (Mitragyna speciosa Korth. Havil) has been considered a narcotic drug for years, barred by... more Kratom (Mitragyna speciosa Korth. Havil) has been considered a narcotic drug for years, barred by the law in many parts of the world, while extensive research over the past few decades proves its several beneficial effects, some of which are still in ambiguity. In many countries, including Thailand, the indiscriminate use and abuse of kratom have led to the loss of life. Nonetheless, researchers have isolated almost fifty pure compounds from kratom, most of which are alkaloids. The most prevalent compounds, mitragynine and 7-hydroxy mitragynine, are reported to display agonist morphine-like effects on human μ-opioid receptors and antagonists at κ- and δ-opioid receptors with multimodal effects at other central receptors. Mitragynine is also credited to be one of the modulatory molecules for the Keap1-Nrf2 pathway and SOD, CAT, GST, and associated genes’ upregulatory cascades, leading it to play a pivotal role in neuroprotective actions while evidently causing neuronal disorders at h...
Both deletional and nondeletional globin gene mutations are common in Southeast Asians. Normally,... more Both deletional and nondeletional globin gene mutations are common in Southeast Asians. Normally, deletional gene mutations are characterized separately from nondeletional gene mutations. Therefore, we developed a new approach of multiplex real-time polymerase chain reaction (qPCR) followed by high-resolution melting (HRM) analysis without a fluorescently-labeled probe for the simultaneous detection of deletional and nondeletional gene mutations in a single tube. Three sets of primer pairs were used to establish the qPCR-HRM method that was used to genotype more than 20 different globin genotypes. Twenty known genotypes were used to optimize the qPCR and HRM conditions. Eight genotypes were used to determine the reproducibility of the method. A total of 351 blinded known DNA samples were used for the validation study in three separate reactions and revealed 16 distinct patterns of fragments and/or HRM. The melting temperatures (Tm) of the 3.5 kb,-THAI , HBB-FR2 (exon 1 of the HBB gene),-SEA (Southeast Asian), a2 and 3'-wf1 fragments were 79.44, 81.01, 86.47, 87.89, 90.54 and 94.15 C, respectively. The HRM analysis was performed with the HBB-FR2 fragment to differentiate several alleles. We report a rapid and high-throughput technique that showed 100.0% concordance and low variability for each run. Our developed technique is one of the alternative techniques recommended for screening samples with both deletional and nondeletional globin gene mutations.
Background Familial hypercholesterolemia (FH) is an autosomal dominant disease. The prevalence of... more Background Familial hypercholesterolemia (FH) is an autosomal dominant disease. The prevalence of FH among the Thai population has not been reported. This study investigated the prevalence of FH by using the lowdensity lipoprotein cholesterol (LDL-C) cutoff of the Dutch Lipid Clinic Network (DLCN), as well as the LDL-C cutoff of the US Make Early Diagnosis to Prevent Early Deaths (MEDPED) criteria. Methods This retrospective study used health checkup data from 2015 from the southern Thai population. A total of 1,480 participants (335 males and 1,145 females) aged 18-94-years-old from southern Thailand were enrolled in this study. Anthropometric, demographic, and biochemical data were measured. Additionally, FH was de ned by using the DLCN and the US MEDPED criteria. Results With the use of the DLCN, 7 subjects were identi ed as having probable FH, and the estimated prevalence of FH was 0.47% (1:211). By using the US MEDPED, 6 subjects were identi ed as having de nite FH, and the estimated prevalence of FH was 0.41% (1:247). Most of the subjects with probable FH (71.43%) and de nite FH (83.33%), as de ned by the DLCN and the US MEDPED, respectively, did not take the lipidlowering drug. Conclusions The prevalence of FH among the population in southern Thailand was between 1:211-1:247. Most FH subjects in Thailand may be underdiagnosed and undertreated. Thus, the early detection and treatment of FH should be implemented to prevent the development of cardiovascular disease.
Metabolic syndrome (MetS) increases the risk of developing cardiovascular disease (CVD) and type ... more Metabolic syndrome (MetS) increases the risk of developing cardiovascular disease (CVD) and type 2 diabetes mellitus (T2DM). The vitamin D receptor gene (VDR) polymorphisms have been found associated with MetS and serum 25(OH)D levels but these associations remain controversial. The aim of this study was to investigate the relationship between the VDR polymorphisms and MetS, metabolic components, and serum 25(OH)D levels within the Thai population. A case-control study included 237 participants with MetS according to the MetS diagnostic criteria of NCEP ATPIII and 376 controls. Anthropometric data, blood pressure, lipid profiles, serum 25 (OH)D, and fasting blood glucose were measured. VDR FokI, BsmI, TaqI, and Cdx2 polymorphisms were genotyped by using PCR-HRM. There were no significant differences in the frequencies of VDR genotypes and alleles between MetS and the control groups. VDR TaqI TT, and BsmI BB + Bb genotypes were associated with lower 25(OH)D levels (p < 0.05) in comparison to TaqI Tt, and BsmI bb genotypes in the MetS group, respectively. In addition, the VDR Cdx2 GG genotype was associated with higher WC compared with the AG genotype in all subjects (p < 0.05). Logistic regression analysis revealed that BB + Bb genotypes of the VDR BsmI had significantly increased the odds ratio (OR) of hypertriglyceridemia when compared with the bb genotype (OR 1.87; 95% CI 1.10-3.19, p = 0.022). In conclusion, VDR BsmI variant was associated with hypertriglyceridemia and may be predisposed to developing MetS. VDR TaqI and BsmI polymorphisms seems to influence serum 25(OH)D levels in MetS subjects, while Cdx2 polymorphism may influence WC in all subjects.
α-Thalassemia, b-thalassemia and Hb E are the most common genetic disorders in Thailand. The prev... more α-Thalassemia, b-thalassemia and Hb E are the most common genetic disorders in Thailand. The prevention and control program of thalassemia is necessary for reducing the number of patients. The levels of knowledge and attitudes toward thalassemia information may affect the efficiency of the prevention and control program. This study aimed to evaluate the knowledge and attitude toward thalassemia among Walailak University staffs. A total of 189 Walailak University staffs were recruited for answering the questionnaire and for screening the thalassemias and Hb E. Complete blood count (red cell indices) and DCIP test were used as screening tests. Hemoglobin typing was subsequently performed in the positively screened samples for identifying b-thalassemia and Hb E by an automated HPLC. In addition, multiplex gap-PCR was used to confirm the genotype of α-thalassemia 1 and α-thalassemia 2. Regarding their evaluations of the questionnaire, 55.6% of staffs had an acceptable score of the knowledge about thalassemia whereas more than 75% of staffs had an acceptable score of the attitudes toward thalassemia. The biosocial factors such as gender, graduated program were associated with the knowledge scores and attitude scores (P < 0.05). The biosocial factors explained the variance of knowledge scores and the variance of attitude scores 17.7% (adjusted R 2 = 0.177) and 11.5% (adjusted R 2 = 0.115), respectively. In addition, overall detection rate of thalassemias and/or Hb E-related syndromes was 34.4%. This study not only provides the levels of knowledge and attitudes toward thalassemia in Walailak University staffs leading to giving the informative knowledge of thalassemia but also encourages the prevention and control program of thalassemia in the organizational level.
Thalassemia and hemoglobinopathies are characterized by globin gene mutations affecting the produ... more Thalassemia and hemoglobinopathies are characterized by globin gene mutations affecting the production of quantitative and structural defects of the globin chain. α-Thalassemia, β-thalassemia, hemoglobin E (Hb E), and hemoglobin Constant Spring (Hb CS) are very common in Southeast Asian countries. Complex interactions of thalassemia and Hb variants are also common and affect the thalassemia diagnosis with several techniques including Hb typing and DNA analysis. A family study (family pedigree) is required in the proband with a complex interaction of several globin gene defects with rare types. Homozygous β-thalassemia, Hb E/β-thalassemia, and Hb Bart's hydrops fetalis are severe thalassemia and these diseases have been concerned and included in the prevention and control program in several countries. Understanding the genotype-phenotype could help with the proper laboratory tests, genetic counseling, and effective treatment for the patients.
Several genetic factors have been investigated responsible for metabolic syndrome (MetS). The aim... more Several genetic factors have been investigated responsible for metabolic syndrome (MetS). The aim of this study was to investigate the association between cholesteryl ester transfer protein (CETP) TaqIB and apolipoprotein E (ApoE) polymorphisms and MetS in 378 subjects from Southern Thailand. Subjects were divided into MetS+ (n = 121) and MetS- (n = 257) groups according to the criteria of National Cholesterol Education Program Adult Treatment Panel III (NCEP ATPIII). The CETP TaqIB and ApoE polymorphisms were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Logistic regression analysis revealed no association of CETP TaqIB and ApoE variants with MetS, after adjustment for age and sex. However, ε4 allele had a significantly increased odds ratio (OR) of reduced high-density lipoprotein-cholesterol (HDL-C) levels when compared with ε3 allele (OR 1.91; 95 % CI 1.11-3.29, p = 0.020). This suggests that CETP TaqIB and ApoE polymorphisms may not be considered as genetic risk factors for MetS in a Southern Thai population. However, ε4 allele which is associated with one metabolic component, low HDL-C levels, might predispose the subjects to develop metabolic disturbances.
Background Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme essential for NADPH production a... more Background Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme essential for NADPH production and protecting cells, especially red blood cells, from free radicals. The oxidative stress from drugs, chemicals, and infections can induce red blood cell hemolysis in G6PD deficiency patients, causing a genetic disorder. Objectives This study aims to provide more information on G6PD deficiency prevalence and the G6PD variants in the southern Thai population. Methods Five hundred and twenty healthy subjects in 14 provinces in the southern part of Thailand participated in the study. EDTA-blood samples were collected for a hematological parameters study, G6PD deficiency screening, and a molecular study for G6PD mutation. G6PD deficiency screening was tested using a fluorescent spot test. The types of G6PD mutation were identified by the allele-specific PCR method. Results The prevalence of G6PD deficiency in southern Thailand was 6.1% (14/228) in males and 9.6% (28/292) in females. Two homo...
The types of β-thalassem ia mutations, α-thalassemia interactions, and Hb F-associated SNPs have ... more The types of β-thalassem ia mutations, α-thalassemia interactions, and Hb F-associated SNPs have been described in association with variable disease phenotypes. This study aimed to determine the updated spectrum of β-thalassemia mutations and evaluate the contribution of primary and secondary genetic modifiers and SNPs to disease severity, age at onset, and predicted life expectancy in southern Thai β-thalassemia patients. A total of 181 β-thalassemia patients were enrolled and 135 β 0-thalassemia/Hb E patients without α-thalassemia interactions were divided into three categories according to disease severity, age at onset, and predicted life expectancy. A total of 16 β-thalassemia mutations were identified in this study, and the three most common β-thalassemia mutations accounted for 61.4% of all mutations. It was also found that the XmnI polymorphism and rs2071348 were associated with age at onset and the predicted life expectancy. More than 82% of β 0-thalassemia/Hb E patients with CC genotype (XmnI) were 3 years old or younger at onset. Additionally, >90% of the higher predicted life expectancy in β 0-thalassemia/Hb E patients had the T allele of XmnI. Therefore, genetic prediction for age at onset and life expectancy is beneficial and practical during prenatal diagnosis or newborn screening for better genetic counseling and optimal management.
BackgroundFamilial hypercholesterolemia (FH) is an autosomal dominant disease. The prevalence of ... more BackgroundFamilial hypercholesterolemia (FH) is an autosomal dominant disease. The prevalence of FH among the Thai population has not been reported. This study investigated the prevalence of FH by using the low-density lipoprotein cholesterol (LDL-C) cutoff of the Dutch Lipid Clinic Network (DLCN), as well as the LDL-C cutoff of the US Make Early Diagnosis to Prevent Early Deaths (MEDPED) criteria.MethodsThis retrospective study used health checkup data from 2015 from the southern Thai population. A total of 1,480 participants (335 males and 1,145 females) aged 18–94-years-old from southern Thailand were enrolled in this study. Anthropometric, demographic, and biochemical data were measured. Additionally, FH was defined by using the DLCN and the US MEDPED criteria.ResultsWith the use of the DLCN, 7 subjects were identified as having probable FH, and the estimated prevalence of FH was 0.47% (1:211). By using the US MEDPED, 6 subjects were identified as having definite FH, and the est...
Stroke represents the leading cause of disability and mortality amongst the elderly worldwide. Mu... more Stroke represents the leading cause of disability and mortality amongst the elderly worldwide. Multiple risk factors, including both genetic and non-genetic components, as well as their interactions, are proposed as etiological factors involved in the development of ischemic stroke (IS). Promoter polymorphisms of the IL-6-174G/C (rs1800795) and TNF-α-308G/A (rs1800629) genes have been considered as predictive risk factors of IS; however, these have not yet been evaluated in a Thai population. The aims of this study were to investigate the association of IL-6-174G/C and TNF-α-308G/A polymorphisms with IS. Genomic DNA from 200 patients with IS and 200 controls were genotyped for IL-6-174G/C and TNF-α-308G/A polymorphisms using TaqMan™ SNP genotyping and quantitative PCR-high resolution melting analysis, respectively. It was found that the TNF-α-308 A allele was significantly associated with an increased risk of IS development compared with the G allele [odds ratio (OR)=2.044; 95% CI=1.154-3.620; P=0.014]. Moreover, the IS risk was significantly higher in the presence of TNF-α-308 GA or AA genotypes compared with that in the presence of GG genotypes with a dominant inheritance (OR=1.971; 95% CI=1.080-3.599; P=0.027). However, there was no association between IL-6-174G/C and the risk of IS development. The interaction study demonstrated that IL-6-174 GG and TNF-α-308 GG genotypes enhanced IS susceptibility when combined with hypertension, hyperlipidemia and alcohol consumption. Hypertensive and hyperlipidemic subjects with the TNF-α-308 GA and AA genotypes were more likely to develop IS compared with those who did not have these two conditions and had the GG genotype. In a matched study design (1:1), the IL-6-174 GC genotype was associated with higher IL-6 levels in the control group. Collectively, the present results highlight the utility of the TNF-α-308G/A polymorphism as a predictive genetic risk factor for development of IS.
Metabolic syndrome (MetS) increases the risk of developing cardiovascular disease (CVD) and type ... more Metabolic syndrome (MetS) increases the risk of developing cardiovascular disease (CVD) and type 2 diabetes mellitus (T2DM). The vitamin D receptor gene (VDR) polymorphisms have been found associated with MetS and serum 25(OH)D levels but these associations remain controversial. The aim of this study was to investigate the relationship between the VDR polymorphisms and MetS, metabolic components, and serum 25(OH)D levels within the Thai population. A case-control study included 237 participants with MetS according to the MetS diagnostic criteria of NCEP ATPIII and 376 controls. Anthropometric data, blood pressure, lipid profiles, serum 25 (OH)D, and fasting blood glucose were measured. VDR FokI, BsmI, TaqI, and Cdx2 polymorphisms were genotyped by using PCR-HRM. There were no significant differences in the frequencies of VDR genotypes and alleles between MetS and the control groups. VDR TaqI TT, and BsmI BB + Bb genotypes were associated with lower 25(OH)D levels (p &lt; 0.05) in comparison to TaqI Tt, and BsmI bb genotypes in the MetS group, respectively. In addition, the VDR Cdx2 GG genotype was associated with higher WC compared with the AG genotype in all subjects (p &lt; 0.05). Logistic regression analysis revealed that BB + Bb genotypes of the VDR BsmI had significantly increased the odds ratio (OR) of hypertriglyceridemia when compared with the bb genotype (OR 1.87; 95% CI 1.10-3.19, p = 0.022). In conclusion, VDR BsmI variant was associated with hypertriglyceridemia and may be predisposed to developing MetS. VDR TaqI and BsmI polymorphisms seems to influence serum 25(OH)D levels in MetS subjects, while Cdx2 polymorphism may influence WC in all subjects.
Both deletional and nondeletional globin gene mutations are common in Southeast Asians. Normally,... more Both deletional and nondeletional globin gene mutations are common in Southeast Asians. Normally, deletional gene mutations are characterized separately from nondeletional gene mutations. Therefore, we developed a new approach of multiplex real-time polymerase chain reaction (qPCR) followed by high-resolution melting (HRM) analysis without a fluorescently-labeled probe for the simultaneous detection of deletional and nondeletional gene mutations in a single tube. Three sets of primer pairs were used to establish the qPCR-HRM method that was used to genotype more than 20 different globin genotypes. Twenty known genotypes were used to optimize the qPCR and HRM conditions. Eight genotypes were used to determine the reproducibility of the method. A total of 351 blinded known DNA samples were used for the validation study in three separate reactions and revealed 16 distinct patterns of fragments and/or HRM. The melting temperatures (Tm) of the 3.5 kb,-THAI , HBB-FR2 (exon 1 of the HBB gene),-SEA (Southeast Asian), a2 and 3'-wf1 fragments were 79.44, 81.01, 86.47, 87.89, 90.54 and 94.15 C, respectively. The HRM analysis was performed with the HBB-FR2 fragment to differentiate several alleles. We report a rapid and high-throughput technique that showed 100.0% concordance and low variability for each run. Our developed technique is one of the alternative techniques recommended for screening samples with both deletional and nondeletional globin gene mutations.
Journal of the Medical Association of Thailand, 2020
Background: Paraoxonase 1 (PON1) plays a critical role in the prevention of cardiovascular diseas... more Background: Paraoxonase 1 (PON1) plays a critical role in the prevention of cardiovascular disease, diabetes mellitus, and other chronic diseases. Objective: The aim of the present study was to investigate the association of PON1 L55M and Q192R polymorphisms with type 2 diabetes mellitus (T2DM), and pre-diabetes. Materials and Methods: The present study included 512 subjects (223 T2DM patients, 150 pre-diabetes, and 139 healthy controls) from Southern Thailand. The PON1 L55M and Q192R polymorphisms were analyzed by polymerase chain reactionrestriction fragment length polymorphism (PCR-RFLP) technique. Results: PON1 Q192R polymorphism showed a statistical difference in genotype frequencies between T2DM patients and healthy controls (p<0.0001). Multiple logistic regression analyses after adjusting for age, gender, and BMI showed that LM and RR genotypes increased the risk for T2DM compared with LL and QQ+QR genotypes (OR 1.96; 95% CI 1.02 to 3.76, p=0.042, and OR 1.85; 95% CI 1.11 ...
Kratom (Mitragyna speciosa Korth. Havil) has been considered a narcotic drug for years, barred by... more Kratom (Mitragyna speciosa Korth. Havil) has been considered a narcotic drug for years, barred by the law in many parts of the world, while extensive research over the past few decades proves its several beneficial effects, some of which are still in ambiguity. In many countries, including Thailand, the indiscriminate use and abuse of kratom have led to the loss of life. Nonetheless, researchers have isolated almost fifty pure compounds from kratom, most of which are alkaloids. The most prevalent compounds, mitragynine and 7-hydroxy mitragynine, are reported to display agonist morphine-like effects on human μ-opioid receptors and antagonists at κ- and δ-opioid receptors with multimodal effects at other central receptors. Mitragynine is also credited to be one of the modulatory molecules for the Keap1-Nrf2 pathway and SOD, CAT, GST, and associated genes’ upregulatory cascades, leading it to play a pivotal role in neuroprotective actions while evidently causing neuronal disorders at h...
Both deletional and nondeletional globin gene mutations are common in Southeast Asians. Normally,... more Both deletional and nondeletional globin gene mutations are common in Southeast Asians. Normally, deletional gene mutations are characterized separately from nondeletional gene mutations. Therefore, we developed a new approach of multiplex real-time polymerase chain reaction (qPCR) followed by high-resolution melting (HRM) analysis without a fluorescently-labeled probe for the simultaneous detection of deletional and nondeletional gene mutations in a single tube. Three sets of primer pairs were used to establish the qPCR-HRM method that was used to genotype more than 20 different globin genotypes. Twenty known genotypes were used to optimize the qPCR and HRM conditions. Eight genotypes were used to determine the reproducibility of the method. A total of 351 blinded known DNA samples were used for the validation study in three separate reactions and revealed 16 distinct patterns of fragments and/or HRM. The melting temperatures (Tm) of the 3.5 kb,-THAI , HBB-FR2 (exon 1 of the HBB gene),-SEA (Southeast Asian), a2 and 3'-wf1 fragments were 79.44, 81.01, 86.47, 87.89, 90.54 and 94.15 C, respectively. The HRM analysis was performed with the HBB-FR2 fragment to differentiate several alleles. We report a rapid and high-throughput technique that showed 100.0% concordance and low variability for each run. Our developed technique is one of the alternative techniques recommended for screening samples with both deletional and nondeletional globin gene mutations.
Background Familial hypercholesterolemia (FH) is an autosomal dominant disease. The prevalence of... more Background Familial hypercholesterolemia (FH) is an autosomal dominant disease. The prevalence of FH among the Thai population has not been reported. This study investigated the prevalence of FH by using the lowdensity lipoprotein cholesterol (LDL-C) cutoff of the Dutch Lipid Clinic Network (DLCN), as well as the LDL-C cutoff of the US Make Early Diagnosis to Prevent Early Deaths (MEDPED) criteria. Methods This retrospective study used health checkup data from 2015 from the southern Thai population. A total of 1,480 participants (335 males and 1,145 females) aged 18-94-years-old from southern Thailand were enrolled in this study. Anthropometric, demographic, and biochemical data were measured. Additionally, FH was de ned by using the DLCN and the US MEDPED criteria. Results With the use of the DLCN, 7 subjects were identi ed as having probable FH, and the estimated prevalence of FH was 0.47% (1:211). By using the US MEDPED, 6 subjects were identi ed as having de nite FH, and the estimated prevalence of FH was 0.41% (1:247). Most of the subjects with probable FH (71.43%) and de nite FH (83.33%), as de ned by the DLCN and the US MEDPED, respectively, did not take the lipidlowering drug. Conclusions The prevalence of FH among the population in southern Thailand was between 1:211-1:247. Most FH subjects in Thailand may be underdiagnosed and undertreated. Thus, the early detection and treatment of FH should be implemented to prevent the development of cardiovascular disease.
Metabolic syndrome (MetS) increases the risk of developing cardiovascular disease (CVD) and type ... more Metabolic syndrome (MetS) increases the risk of developing cardiovascular disease (CVD) and type 2 diabetes mellitus (T2DM). The vitamin D receptor gene (VDR) polymorphisms have been found associated with MetS and serum 25(OH)D levels but these associations remain controversial. The aim of this study was to investigate the relationship between the VDR polymorphisms and MetS, metabolic components, and serum 25(OH)D levels within the Thai population. A case-control study included 237 participants with MetS according to the MetS diagnostic criteria of NCEP ATPIII and 376 controls. Anthropometric data, blood pressure, lipid profiles, serum 25 (OH)D, and fasting blood glucose were measured. VDR FokI, BsmI, TaqI, and Cdx2 polymorphisms were genotyped by using PCR-HRM. There were no significant differences in the frequencies of VDR genotypes and alleles between MetS and the control groups. VDR TaqI TT, and BsmI BB + Bb genotypes were associated with lower 25(OH)D levels (p &lt; 0.05) in comparison to TaqI Tt, and BsmI bb genotypes in the MetS group, respectively. In addition, the VDR Cdx2 GG genotype was associated with higher WC compared with the AG genotype in all subjects (p &lt; 0.05). Logistic regression analysis revealed that BB + Bb genotypes of the VDR BsmI had significantly increased the odds ratio (OR) of hypertriglyceridemia when compared with the bb genotype (OR 1.87; 95% CI 1.10-3.19, p = 0.022). In conclusion, VDR BsmI variant was associated with hypertriglyceridemia and may be predisposed to developing MetS. VDR TaqI and BsmI polymorphisms seems to influence serum 25(OH)D levels in MetS subjects, while Cdx2 polymorphism may influence WC in all subjects.
α-Thalassemia, b-thalassemia and Hb E are the most common genetic disorders in Thailand. The prev... more α-Thalassemia, b-thalassemia and Hb E are the most common genetic disorders in Thailand. The prevention and control program of thalassemia is necessary for reducing the number of patients. The levels of knowledge and attitudes toward thalassemia information may affect the efficiency of the prevention and control program. This study aimed to evaluate the knowledge and attitude toward thalassemia among Walailak University staffs. A total of 189 Walailak University staffs were recruited for answering the questionnaire and for screening the thalassemias and Hb E. Complete blood count (red cell indices) and DCIP test were used as screening tests. Hemoglobin typing was subsequently performed in the positively screened samples for identifying b-thalassemia and Hb E by an automated HPLC. In addition, multiplex gap-PCR was used to confirm the genotype of α-thalassemia 1 and α-thalassemia 2. Regarding their evaluations of the questionnaire, 55.6% of staffs had an acceptable score of the knowledge about thalassemia whereas more than 75% of staffs had an acceptable score of the attitudes toward thalassemia. The biosocial factors such as gender, graduated program were associated with the knowledge scores and attitude scores (P < 0.05). The biosocial factors explained the variance of knowledge scores and the variance of attitude scores 17.7% (adjusted R 2 = 0.177) and 11.5% (adjusted R 2 = 0.115), respectively. In addition, overall detection rate of thalassemias and/or Hb E-related syndromes was 34.4%. This study not only provides the levels of knowledge and attitudes toward thalassemia in Walailak University staffs leading to giving the informative knowledge of thalassemia but also encourages the prevention and control program of thalassemia in the organizational level.
Thalassemia and hemoglobinopathies are characterized by globin gene mutations affecting the produ... more Thalassemia and hemoglobinopathies are characterized by globin gene mutations affecting the production of quantitative and structural defects of the globin chain. α-Thalassemia, β-thalassemia, hemoglobin E (Hb E), and hemoglobin Constant Spring (Hb CS) are very common in Southeast Asian countries. Complex interactions of thalassemia and Hb variants are also common and affect the thalassemia diagnosis with several techniques including Hb typing and DNA analysis. A family study (family pedigree) is required in the proband with a complex interaction of several globin gene defects with rare types. Homozygous β-thalassemia, Hb E/β-thalassemia, and Hb Bart's hydrops fetalis are severe thalassemia and these diseases have been concerned and included in the prevention and control program in several countries. Understanding the genotype-phenotype could help with the proper laboratory tests, genetic counseling, and effective treatment for the patients.
Several genetic factors have been investigated responsible for metabolic syndrome (MetS). The aim... more Several genetic factors have been investigated responsible for metabolic syndrome (MetS). The aim of this study was to investigate the association between cholesteryl ester transfer protein (CETP) TaqIB and apolipoprotein E (ApoE) polymorphisms and MetS in 378 subjects from Southern Thailand. Subjects were divided into MetS+ (n = 121) and MetS- (n = 257) groups according to the criteria of National Cholesterol Education Program Adult Treatment Panel III (NCEP ATPIII). The CETP TaqIB and ApoE polymorphisms were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Logistic regression analysis revealed no association of CETP TaqIB and ApoE variants with MetS, after adjustment for age and sex. However, ε4 allele had a significantly increased odds ratio (OR) of reduced high-density lipoprotein-cholesterol (HDL-C) levels when compared with ε3 allele (OR 1.91; 95 % CI 1.11-3.29, p = 0.020). This suggests that CETP TaqIB and ApoE polymorphisms may not be considered as genetic risk factors for MetS in a Southern Thai population. However, ε4 allele which is associated with one metabolic component, low HDL-C levels, might predispose the subjects to develop metabolic disturbances.
Background Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme essential for NADPH production a... more Background Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme essential for NADPH production and protecting cells, especially red blood cells, from free radicals. The oxidative stress from drugs, chemicals, and infections can induce red blood cell hemolysis in G6PD deficiency patients, causing a genetic disorder. Objectives This study aims to provide more information on G6PD deficiency prevalence and the G6PD variants in the southern Thai population. Methods Five hundred and twenty healthy subjects in 14 provinces in the southern part of Thailand participated in the study. EDTA-blood samples were collected for a hematological parameters study, G6PD deficiency screening, and a molecular study for G6PD mutation. G6PD deficiency screening was tested using a fluorescent spot test. The types of G6PD mutation were identified by the allele-specific PCR method. Results The prevalence of G6PD deficiency in southern Thailand was 6.1% (14/228) in males and 9.6% (28/292) in females. Two homo...
The types of β-thalassem ia mutations, α-thalassemia interactions, and Hb F-associated SNPs have ... more The types of β-thalassem ia mutations, α-thalassemia interactions, and Hb F-associated SNPs have been described in association with variable disease phenotypes. This study aimed to determine the updated spectrum of β-thalassemia mutations and evaluate the contribution of primary and secondary genetic modifiers and SNPs to disease severity, age at onset, and predicted life expectancy in southern Thai β-thalassemia patients. A total of 181 β-thalassemia patients were enrolled and 135 β 0-thalassemia/Hb E patients without α-thalassemia interactions were divided into three categories according to disease severity, age at onset, and predicted life expectancy. A total of 16 β-thalassemia mutations were identified in this study, and the three most common β-thalassemia mutations accounted for 61.4% of all mutations. It was also found that the XmnI polymorphism and rs2071348 were associated with age at onset and the predicted life expectancy. More than 82% of β 0-thalassemia/Hb E patients with CC genotype (XmnI) were 3 years old or younger at onset. Additionally, >90% of the higher predicted life expectancy in β 0-thalassemia/Hb E patients had the T allele of XmnI. Therefore, genetic prediction for age at onset and life expectancy is beneficial and practical during prenatal diagnosis or newborn screening for better genetic counseling and optimal management.
BackgroundFamilial hypercholesterolemia (FH) is an autosomal dominant disease. The prevalence of ... more BackgroundFamilial hypercholesterolemia (FH) is an autosomal dominant disease. The prevalence of FH among the Thai population has not been reported. This study investigated the prevalence of FH by using the low-density lipoprotein cholesterol (LDL-C) cutoff of the Dutch Lipid Clinic Network (DLCN), as well as the LDL-C cutoff of the US Make Early Diagnosis to Prevent Early Deaths (MEDPED) criteria.MethodsThis retrospective study used health checkup data from 2015 from the southern Thai population. A total of 1,480 participants (335 males and 1,145 females) aged 18–94-years-old from southern Thailand were enrolled in this study. Anthropometric, demographic, and biochemical data were measured. Additionally, FH was defined by using the DLCN and the US MEDPED criteria.ResultsWith the use of the DLCN, 7 subjects were identified as having probable FH, and the estimated prevalence of FH was 0.47% (1:211). By using the US MEDPED, 6 subjects were identified as having definite FH, and the est...
Stroke represents the leading cause of disability and mortality amongst the elderly worldwide. Mu... more Stroke represents the leading cause of disability and mortality amongst the elderly worldwide. Multiple risk factors, including both genetic and non-genetic components, as well as their interactions, are proposed as etiological factors involved in the development of ischemic stroke (IS). Promoter polymorphisms of the IL-6-174G/C (rs1800795) and TNF-α-308G/A (rs1800629) genes have been considered as predictive risk factors of IS; however, these have not yet been evaluated in a Thai population. The aims of this study were to investigate the association of IL-6-174G/C and TNF-α-308G/A polymorphisms with IS. Genomic DNA from 200 patients with IS and 200 controls were genotyped for IL-6-174G/C and TNF-α-308G/A polymorphisms using TaqMan™ SNP genotyping and quantitative PCR-high resolution melting analysis, respectively. It was found that the TNF-α-308 A allele was significantly associated with an increased risk of IS development compared with the G allele [odds ratio (OR)=2.044; 95% CI=1.154-3.620; P=0.014]. Moreover, the IS risk was significantly higher in the presence of TNF-α-308 GA or AA genotypes compared with that in the presence of GG genotypes with a dominant inheritance (OR=1.971; 95% CI=1.080-3.599; P=0.027). However, there was no association between IL-6-174G/C and the risk of IS development. The interaction study demonstrated that IL-6-174 GG and TNF-α-308 GG genotypes enhanced IS susceptibility when combined with hypertension, hyperlipidemia and alcohol consumption. Hypertensive and hyperlipidemic subjects with the TNF-α-308 GA and AA genotypes were more likely to develop IS compared with those who did not have these two conditions and had the GG genotype. In a matched study design (1:1), the IL-6-174 GC genotype was associated with higher IL-6 levels in the control group. Collectively, the present results highlight the utility of the TNF-α-308G/A polymorphism as a predictive genetic risk factor for development of IS.
Metabolic syndrome (MetS) increases the risk of developing cardiovascular disease (CVD) and type ... more Metabolic syndrome (MetS) increases the risk of developing cardiovascular disease (CVD) and type 2 diabetes mellitus (T2DM). The vitamin D receptor gene (VDR) polymorphisms have been found associated with MetS and serum 25(OH)D levels but these associations remain controversial. The aim of this study was to investigate the relationship between the VDR polymorphisms and MetS, metabolic components, and serum 25(OH)D levels within the Thai population. A case-control study included 237 participants with MetS according to the MetS diagnostic criteria of NCEP ATPIII and 376 controls. Anthropometric data, blood pressure, lipid profiles, serum 25 (OH)D, and fasting blood glucose were measured. VDR FokI, BsmI, TaqI, and Cdx2 polymorphisms were genotyped by using PCR-HRM. There were no significant differences in the frequencies of VDR genotypes and alleles between MetS and the control groups. VDR TaqI TT, and BsmI BB + Bb genotypes were associated with lower 25(OH)D levels (p &lt; 0.05) in comparison to TaqI Tt, and BsmI bb genotypes in the MetS group, respectively. In addition, the VDR Cdx2 GG genotype was associated with higher WC compared with the AG genotype in all subjects (p &lt; 0.05). Logistic regression analysis revealed that BB + Bb genotypes of the VDR BsmI had significantly increased the odds ratio (OR) of hypertriglyceridemia when compared with the bb genotype (OR 1.87; 95% CI 1.10-3.19, p = 0.022). In conclusion, VDR BsmI variant was associated with hypertriglyceridemia and may be predisposed to developing MetS. VDR TaqI and BsmI polymorphisms seems to influence serum 25(OH)D levels in MetS subjects, while Cdx2 polymorphism may influence WC in all subjects.
Both deletional and nondeletional globin gene mutations are common in Southeast Asians. Normally,... more Both deletional and nondeletional globin gene mutations are common in Southeast Asians. Normally, deletional gene mutations are characterized separately from nondeletional gene mutations. Therefore, we developed a new approach of multiplex real-time polymerase chain reaction (qPCR) followed by high-resolution melting (HRM) analysis without a fluorescently-labeled probe for the simultaneous detection of deletional and nondeletional gene mutations in a single tube. Three sets of primer pairs were used to establish the qPCR-HRM method that was used to genotype more than 20 different globin genotypes. Twenty known genotypes were used to optimize the qPCR and HRM conditions. Eight genotypes were used to determine the reproducibility of the method. A total of 351 blinded known DNA samples were used for the validation study in three separate reactions and revealed 16 distinct patterns of fragments and/or HRM. The melting temperatures (Tm) of the 3.5 kb,-THAI , HBB-FR2 (exon 1 of the HBB gene),-SEA (Southeast Asian), a2 and 3'-wf1 fragments were 79.44, 81.01, 86.47, 87.89, 90.54 and 94.15 C, respectively. The HRM analysis was performed with the HBB-FR2 fragment to differentiate several alleles. We report a rapid and high-throughput technique that showed 100.0% concordance and low variability for each run. Our developed technique is one of the alternative techniques recommended for screening samples with both deletional and nondeletional globin gene mutations.
Journal of the Medical Association of Thailand, 2020
Background: Paraoxonase 1 (PON1) plays a critical role in the prevention of cardiovascular diseas... more Background: Paraoxonase 1 (PON1) plays a critical role in the prevention of cardiovascular disease, diabetes mellitus, and other chronic diseases. Objective: The aim of the present study was to investigate the association of PON1 L55M and Q192R polymorphisms with type 2 diabetes mellitus (T2DM), and pre-diabetes. Materials and Methods: The present study included 512 subjects (223 T2DM patients, 150 pre-diabetes, and 139 healthy controls) from Southern Thailand. The PON1 L55M and Q192R polymorphisms were analyzed by polymerase chain reactionrestriction fragment length polymorphism (PCR-RFLP) technique. Results: PON1 Q192R polymorphism showed a statistical difference in genotype frequencies between T2DM patients and healthy controls (p<0.0001). Multiple logistic regression analyses after adjusting for age, gender, and BMI showed that LM and RR genotypes increased the risk for T2DM compared with LL and QQ+QR genotypes (OR 1.96; 95% CI 1.02 to 3.76, p=0.042, and OR 1.85; 95% CI 1.11 ...
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Papers by Manit Nuinoon