Introduction: Anaerobic digestion for methane production comprises of an exceptionally diverse mi... more Introduction: Anaerobic digestion for methane production comprises of an exceptionally diverse microbial consortium, a profound understanding about which is still constrained. In this study, the methanogenic archaeal communities in three full-scale anaerobic digesters of a Municipal Wastewater Treatment Plant were analyzed by Fluorescence in situ hybridization and quantitative real-time Polymerase Chain Reaction (qPCR) technique. Methods & Materials: Fluorescence in situ hybridization (FISH) was performed to detect and quantify the methanogenic Archaea in the sludge samples whereas qPCR was carried out to support the FISH analysis. Multiple probes targeting domain archaea, different orders and families of Archaea were used for the studies.
Haemoglobinopathies such as sickle cell anaemia are the commonest hereditary disorders and a seri... more Haemoglobinopathies such as sickle cell anaemia are the commonest hereditary disorders and a serious threat to general public health in India. It is a recessive autosomal disorder which is commonly encountered in heterozygous and ho-mozygous form in India where it is prevalent in central Deccan plateau. The present study was undertaken to establish the pre-valence of sickle cell anaemia and sickle cell trait in the tribal population of Chhattisgarh. The study included 1056 participants from tribal population of Chattisgarh, India who donated their blood samples. On the spot, solubility test was performed and the positive samples were confirmed by cellulose acetate Hb electrophoresis followed by HPLC. The data thus obtained was used to calculate the allele frequency of HbS trait among tribal population of Chhattisgarh and compared with other similar studies conducted around India. Sickle cell trait was detected in 20.2% of population whereas 1.2% was affected with sickle cell anaemia...
International Journal of Genetics and Molecular Biology
Vesicular monoamine transporters (VMATs) are an important target for biological research in neuro... more Vesicular monoamine transporters (VMATs) are an important target for biological research in neuropsychiatric disorders. Recent studies indicated that VMAT1 is expressed in the brain, thus making transporter plausible candidate genes for neuropsychiatric disorders. Furthermore, several recent genetic case-control studies have documented an association between common missense variations in the VMAT1 gene and susceptibility to bipolar disorder and schizophrenia. Until now, there are no reports of VMAT 1 allele frequencies in Emirati population. Hence, the aim of the present work was to study VMAT1 genetic polymorphism in Healthy Emirati population. Saliva samples were collected from 248 healthy Emiratis and genotyping was done for rs2270641 by PCR-RFLP, and rs2270637 and rs1390938 by Taqman assay. The minor allele frequencies of rs2270641, rs2270637 and rs1390938 were 0.48, 0.20 and 0.18, respectively, which were compared with that of available HapMap population data. In conclusion, the present study is first of its kind in Emirati population that established the allele and genotype frequency for various VMAT1 alleles which can be exploited to design future studies on the genetic association of neuropsychiatry disorders.
Understanding the microbial communities in anaerobic digesters, especially bacteria and archaea, ... more Understanding the microbial communities in anaerobic digesters, especially bacteria and archaea, is key to its better operation and regulation. Microbial communities in the anaerobic digesters of the Gulf region where climatic conditions and other factors may impact the incoming feed are not documented. Therefore, Archaeal and Bacterial communities of three full-scale anaerobic digesters, namely AD1, AD3, and AD5 of the Jebel Ali Sewage water Treatment Plant (JASTP) were analyzed by Illumina sequencing of 16S rRNA genes. Among bacteria, the most abundant genus was fermentative bacteria Acetobacteroides (Blvii28). Other predominant bacterial genera in the digesters included thermophilic bacteria (Fervidobacterium and Coprothermobacter) and halophilic bacteria like Haloterrigena and Sediminibacter. This can be correlated with the climatic condition in Dubai, where the bacteria in the incoming feed may be thermophilic or halophilic as much of the water used in the country is desalinate...
Extended-spectrum beta-lactamase (ESBL) producing bacteria of the Enterobacteriaceae family are a... more Extended-spectrum beta-lactamase (ESBL) producing bacteria of the Enterobacteriaceae family are a significant threat to public health, posing a challenge for health authorities worldwide. In the UAE, very little information is available about ESBL producing bacteria from non-clinical sources. In this study, 206 pure cultures belonging to the Enterobacteriaceae family were isolated from food and wastewater sources in Dubai, UAE. All the isolates were tested against third-generation cephalosporin antibiotics by the disc diffusion method and screened on ESBL chromogenic agar. Among all isolates (n = 86), 41.7% were potential ESBL producers belonging to E. coli, Klebsiella, Enterobacter, Shigella, and Citrobacter (KESC group), and Proteus. Of all the potential ESBL producing isolates, 19 (22%) were confirmed as ESBL producers by a double-disc diffusion test with the fourth generation cephalosporin–Cefpirome. The multiplex polymerase chain reaction was used for the detection of ESBL bla ...
Genetic polymorphisms, causing variation in casein genes (CSN1S1, CSN1S2, CSN2, and CSN3), have b... more Genetic polymorphisms, causing variation in casein genes (CSN1S1, CSN1S2, CSN2, and CSN3), have been extensively studied in goats and cows, but there are only few studies reported in camels. Therefore, we aimed to identify alleles with functional roles in the United Arab Emirates dromedary camel (Camelus dromedarius) population to complement previous studies conducted on the same species. Using targeted next-generation sequencing, we sequenced all genes in the casein gene cluster in 93 female camels to identify and characterize novel gene variants. Most variants were found in noncoding introns and upstream sequences, but a few variants showed the possibility of functional impact. CSN2 was found to be most polymorphic, with total 91 different variants, followed by CSN1S1, CSN3 and CSN1S2. CSN1S1, CSN1S2 and CSN2 each had at least two variants while CSN3 had only one functional allele. In future research, the functional impact of these variants should be investigated further.
Journal of Sustainable Development of Energy, Water and Environment Systems
A highly complex microbial community involved in anaerobic sludge digesters plays vital roles in ... more A highly complex microbial community involved in anaerobic sludge digesters plays vital roles in sludge treatment. The data on microbial ecology is important to accomplish efficient operation of the anaerobic digesters. This study is aimed at monitoring the bacterial community of three full-scale anaerobic digesters of a full-scale municipal wastewater treatment Plant in Dubai, United Arab Emirates. Fluorescent in-situ hybridization technique was applied to identify the bacterial groups and quantitative polymerase chain reaction to compare the richness of bacterial and archaeal domain. Results of the fluorescent in-situ hybridization technique analysis showed that the phylum Proteobacteria was most abundant followed by cytophage-Flavobacterium group of Bacteroides, Firmicutes and Actinobacteria. Among proteobacterial subclass Delta-and Alpha-were dominating than Gamma-and Beta-proteobacteria. The genus Desulfobacter and Desulfobacterium were the dominant groups hybridizing 70-76% of total 4', 6'diamidino-2 phenylindole stained cells. The quantitative polymerase chain reaction results showed that Bacterial domain was dominating in all three digesters compared to the archaeal domain.
Anaerobic digestion for methane production comprises of an exceptionally diverse microbial consor... more Anaerobic digestion for methane production comprises of an exceptionally diverse microbial consortium, a profound understanding about which is still constrained. In this study, the methanogenic archaeal communities in three full-scale anaerobic digesters of a Municipal Wastewater Treatment Plant were analyzed by Fluorescence hybridization and quantitative real-time Polymerase Chain Reaction (qPCR) technique. Fluorescence hybridization (FISH) was performed to detect and quantify the methanogenic in the sludge samples whereas qPCR was carried out to support the FISH analysis. Multiple probes targeting domain archaea, different orders and families of Archaea were used for the studies. In general, the aceticlastic organisms were more abundant than the hydrogenotrophic organisms . Both FISH and qPCR indicated that family was the most abundant suggesting that aceticlastic methanogenesis is probably the dominant methane production pathway in these digesters. Future work involving high-thro...
Anti-cancer agents in medicinal chemistry, Jan 18, 2017
Introduction Epidemiological studies indicate that diet rich in fruits and vegetables are associa... more Introduction Epidemiological studies indicate that diet rich in fruits and vegetables are associated with decreased cancer risk thereby indicating that dietary polyphenols can be potential chemo-preventive agents. The reversible nature of epigenetic modifications makes them a favorable target for cancer prevention. Polyphenols have been shown to reverse aberrant epigenetic patterns by targeting the regulatory enzymes, DNA methyltransferases (DNMTs) and histone deacetylases (HDACs). In vitro and in silico studies of DNMTs and HDACs were planned to examine genistein's role as a natural epigenetic modifier in human cervical cancer cells, HeLa. <P></P> Methods Expression of the tumour suppressor genes (TSGs) [MGMT, RARβ, p21, E-cadherin, DAPK1] as well the methylation status of their promoters were examined alongwith the activity levels of DNMT and HDAC enzymes after treatment with genistein. Expression of DNMTs and HDACs was also studied. In-silico studies were performe...
The association of Angiotensin Converting Enzyme (ACE) insertion-deletion (I/D) polymorphism with... more The association of Angiotensin Converting Enzyme (ACE) insertion-deletion (I/D) polymorphism with Type 2 Diabetes Mellitus (T2DM) and hypertension has been extensively studied throughout various ethnic populations but largely with inconsistent findings. We investigated these associations in Emirati population and their interaction with obesity status. Saliva samples were collected from a total of 564 Emiratis (277 T2DM and 297 healthy). DNA was extracted and the samples were genotyped forACEI/D polymorphism by a PCR based method followed by gel electrophoresis. Upon evaluation of theACEI/D polymorphism amongst all T2DM, hypertensive patients, and respective controls regardless of obesity status,ACEDD genotype was not found to be associated with either T2DM [odds ratio (OR) = 1.34,p=0.086] or hypertension [odd ratio (OR) = 1.02,p=0.93]. When the genetic variants amongst the nonobese and obese population were analyzed separately, the risk genotypeACEDD conferred significantly increase...
Haemoglobinopathies such as sickle cell anaemia are the commonest hereditary disorders and a seri... more Haemoglobinopathies such as sickle cell anaemia are the commonest hereditary disorders and a serious threat to general public health in India. It is a recessive autosomal disorder which is commonly encountered in heterozygous and homozygous form in India where it is prevalent in central Deccan plateau. The present study was undertaken to establish the prevalence of sickle cell anaemia and sickle cell trait in the tribal population of Chhattisgarh. The study included 1056 participants from tribal population of Chattisgarh, India who donated their blood samples. On the spot, solubility test was performed and the positive samples were confirmed by cellulose acetate Hb electrophoresis followed by HPLC. The data thus obtained was used to calculate the allele frequency of HbS trait among tribal population of Chhattisgarh and compared with other similar studies conducted around India. Sickle cell trait was detected in 20.2% of population whereas 1.2% was affected with sickle cell anaemia. ...
Background. Transcription factor 7-like 2 gene (TCF7L2) and peroxisome proliferator-activated rec... more Background. Transcription factor 7-like 2 gene (TCF7L2) and peroxisome proliferator-activated receptors-γ2 (PPAR-γ2) have a profound effect on the incidence of type 2 diabetes mellitus (T2DM) and had previously been found to be associated with T2DM risk in various ppopulations. However, studies in the Arab population are inconsistent. We conducted a case control study to confirm the association of variants rs10885409 ofTCF7L2andPro12Ala(rs1801282) ofPPAR-γ2with risk of T2DM and related complications in Emirati population of Arab origin. We also investigated the interaction of these associations with obesity status.Methods. DNA was extracted from the saliva samples of 272 T2DM patients and 216 nondiabetic Emiratis. Genotyping for rs10885409 (TCF7L2) and rs1801282 (PPAR-γ2 P12A) variants was accomplished with a TaqMan assay. The subgroups were constituted according to obesity status.Results. In the nonobese group, the rs10885409 C allele in the recessive model was significantly associ...
Genetic polymorphism of genes involved in renal salt handling and arterial vessel tone is conside... more Genetic polymorphism of genes involved in renal salt handling and arterial vessel tone is considered to be one of the causes of hypertension. Numerous reports suggest that cytochrome P4503A5 (CYP3A5) catalyzes 6β-hydroxylation of endogenous cortisol (CS), which is associated with sodium and water retention in the kidney and involved in the regulation of blood pressure. The purpose of the present study was to study the associations of single nucleotide polymorphisms in the CYP3A5 gene with the urinary 6β-hydroxycortisol/cortisol (6β-OH-CS/CS) ratio considered as quantitative phenotypes. CS measurements of three hundred (n=300) healthy, normotensive North Indian individuals was performed on morning spot urine samples by high-performance liquid chromatography. Furthermore, genotyping for CYP3A5*3 and CYP3A5*6 was performed by PCR-RFLP. The results indicated a unimodal distribution of CYP3A phenotypes in the North Indian population. In further analysis, all the phenotypes were distribut...
To phenotype 200 healthy North Indians for cytochrome P450 3A (CYP3A) activity by measuring urina... more To phenotype 200 healthy North Indians for cytochrome P450 3A (CYP3A) activity by measuring urinary ratio of 6β-OH-cortisol/cortisol (6β-OH-CS/CS) and to genotype the subjects demonstrating low and high CYP3A activity for the presence of CYP3 A4*1B, *2, *4, *5, *6 and *10 alleles. Methods: Morning spot urine samples were collected from 200 healthy North Indians. CS and 6β-OH-CS were extracted and quantified by HPLC. Genotyping was performed by polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP). Results: Urinary 6β-OH-CS/CS ratio demonstrated a mean of 52.0 ± 46 (1.1-290). North Indians demonstrated unimodal distribution with respect to urinary 6β-OH-CS/CS ratio. On the basis of phenotypes, the subjects were divided into three groups demonstrating low (n=50), intermediate (n=100) and high (n=50) CYP3A activity. These groups demonstrated 6β-OH-CS/CS ratio of 13.4 ± 5.2 (1.1-21.0), 40 ± 11.9 (21.2-63.2) and 114 ± 51.0 (66-290), respectively. One hundred subjects, 50 in the low and 50 in the high activity group, were genotyped for CYP3A4*1B, *2, *4, *5, *6 and *10. Only 2 heterozygotes with genotype CYP3A4*1/*1B were found in the high CYP3A activity group. CYP3A4*2, *4, *5, *6 and *10 were not found in the subjects studied. Conclusion: This is the first investigation establishing CYP3A phenotypes and demonstrating the absence of common CYP3A4 genotypes in North Indians.
Background: The polymorphism of Interleukin 1 receptor antagonist gene (IL-1RN), which encodes a ... more Background: The polymorphism of Interleukin 1 receptor antagonist gene (IL-1RN), which encodes a natural antagonist of pro-inflammatory cytokines belonging to IL-1 family and Haptoglobin (HP) have been studied in various ethnic groups in association with Type 2 Diabetes Mellitus (T2DM) risk and related complications. However, there was no study available among the Emirati population. Hence, we designed a combined study on IL-1RN and HP polymorphism to evaluate their association with prevalence of T2DM, related complication and hypertension and also its interaction with obesity status among Emirati population. Methods: IL-1RN and HP genotypes were determined in total 487 Emiratis divided in two groups of T2DM case (n = 271) and healthy controls (n = 215) by polymerase chain reaction (PCR) followed by gel electrophoresis. Gene-gene interaction and polymorphism-obesity interaction were determined by multivariate logistic regression analysis. Results: We found that the frequencies of IL-1RN*1/*1 and HP2-2 genotypes were significantly higher in cases than control and were associated with increased T2DM risk with an odds ratio (OR) of 1.60 (95 % CI 1.10-2.36) and 1.63 (95 % CI 1.11-2.64), respectively. The association lack any interaction with obesity status. Associations with occurrences of T2DM related complications and hypertension were not observed. Conclusions: We report an association of IL-1RN and HP polymorphism with T2DM risk independent of each other and of obesity status but no association with related complications and hypertension.
Introduction: Anaerobic digestion for methane production comprises of an exceptionally diverse mi... more Introduction: Anaerobic digestion for methane production comprises of an exceptionally diverse microbial consortium, a profound understanding about which is still constrained. In this study, the methanogenic archaeal communities in three full-scale anaerobic digesters of a Municipal Wastewater Treatment Plant were analyzed by Fluorescence in situ hybridization and quantitative real-time Polymerase Chain Reaction (qPCR) technique. Methods & Materials: Fluorescence in situ hybridization (FISH) was performed to detect and quantify the methanogenic Archaea in the sludge samples whereas qPCR was carried out to support the FISH analysis. Multiple probes targeting domain archaea, different orders and families of Archaea were used for the studies.
Haemoglobinopathies such as sickle cell anaemia are the commonest hereditary disorders and a seri... more Haemoglobinopathies such as sickle cell anaemia are the commonest hereditary disorders and a serious threat to general public health in India. It is a recessive autosomal disorder which is commonly encountered in heterozygous and ho-mozygous form in India where it is prevalent in central Deccan plateau. The present study was undertaken to establish the pre-valence of sickle cell anaemia and sickle cell trait in the tribal population of Chhattisgarh. The study included 1056 participants from tribal population of Chattisgarh, India who donated their blood samples. On the spot, solubility test was performed and the positive samples were confirmed by cellulose acetate Hb electrophoresis followed by HPLC. The data thus obtained was used to calculate the allele frequency of HbS trait among tribal population of Chhattisgarh and compared with other similar studies conducted around India. Sickle cell trait was detected in 20.2% of population whereas 1.2% was affected with sickle cell anaemia...
International Journal of Genetics and Molecular Biology
Vesicular monoamine transporters (VMATs) are an important target for biological research in neuro... more Vesicular monoamine transporters (VMATs) are an important target for biological research in neuropsychiatric disorders. Recent studies indicated that VMAT1 is expressed in the brain, thus making transporter plausible candidate genes for neuropsychiatric disorders. Furthermore, several recent genetic case-control studies have documented an association between common missense variations in the VMAT1 gene and susceptibility to bipolar disorder and schizophrenia. Until now, there are no reports of VMAT 1 allele frequencies in Emirati population. Hence, the aim of the present work was to study VMAT1 genetic polymorphism in Healthy Emirati population. Saliva samples were collected from 248 healthy Emiratis and genotyping was done for rs2270641 by PCR-RFLP, and rs2270637 and rs1390938 by Taqman assay. The minor allele frequencies of rs2270641, rs2270637 and rs1390938 were 0.48, 0.20 and 0.18, respectively, which were compared with that of available HapMap population data. In conclusion, the present study is first of its kind in Emirati population that established the allele and genotype frequency for various VMAT1 alleles which can be exploited to design future studies on the genetic association of neuropsychiatry disorders.
Understanding the microbial communities in anaerobic digesters, especially bacteria and archaea, ... more Understanding the microbial communities in anaerobic digesters, especially bacteria and archaea, is key to its better operation and regulation. Microbial communities in the anaerobic digesters of the Gulf region where climatic conditions and other factors may impact the incoming feed are not documented. Therefore, Archaeal and Bacterial communities of three full-scale anaerobic digesters, namely AD1, AD3, and AD5 of the Jebel Ali Sewage water Treatment Plant (JASTP) were analyzed by Illumina sequencing of 16S rRNA genes. Among bacteria, the most abundant genus was fermentative bacteria Acetobacteroides (Blvii28). Other predominant bacterial genera in the digesters included thermophilic bacteria (Fervidobacterium and Coprothermobacter) and halophilic bacteria like Haloterrigena and Sediminibacter. This can be correlated with the climatic condition in Dubai, where the bacteria in the incoming feed may be thermophilic or halophilic as much of the water used in the country is desalinate...
Extended-spectrum beta-lactamase (ESBL) producing bacteria of the Enterobacteriaceae family are a... more Extended-spectrum beta-lactamase (ESBL) producing bacteria of the Enterobacteriaceae family are a significant threat to public health, posing a challenge for health authorities worldwide. In the UAE, very little information is available about ESBL producing bacteria from non-clinical sources. In this study, 206 pure cultures belonging to the Enterobacteriaceae family were isolated from food and wastewater sources in Dubai, UAE. All the isolates were tested against third-generation cephalosporin antibiotics by the disc diffusion method and screened on ESBL chromogenic agar. Among all isolates (n = 86), 41.7% were potential ESBL producers belonging to E. coli, Klebsiella, Enterobacter, Shigella, and Citrobacter (KESC group), and Proteus. Of all the potential ESBL producing isolates, 19 (22%) were confirmed as ESBL producers by a double-disc diffusion test with the fourth generation cephalosporin–Cefpirome. The multiplex polymerase chain reaction was used for the detection of ESBL bla ...
Genetic polymorphisms, causing variation in casein genes (CSN1S1, CSN1S2, CSN2, and CSN3), have b... more Genetic polymorphisms, causing variation in casein genes (CSN1S1, CSN1S2, CSN2, and CSN3), have been extensively studied in goats and cows, but there are only few studies reported in camels. Therefore, we aimed to identify alleles with functional roles in the United Arab Emirates dromedary camel (Camelus dromedarius) population to complement previous studies conducted on the same species. Using targeted next-generation sequencing, we sequenced all genes in the casein gene cluster in 93 female camels to identify and characterize novel gene variants. Most variants were found in noncoding introns and upstream sequences, but a few variants showed the possibility of functional impact. CSN2 was found to be most polymorphic, with total 91 different variants, followed by CSN1S1, CSN3 and CSN1S2. CSN1S1, CSN1S2 and CSN2 each had at least two variants while CSN3 had only one functional allele. In future research, the functional impact of these variants should be investigated further.
Journal of Sustainable Development of Energy, Water and Environment Systems
A highly complex microbial community involved in anaerobic sludge digesters plays vital roles in ... more A highly complex microbial community involved in anaerobic sludge digesters plays vital roles in sludge treatment. The data on microbial ecology is important to accomplish efficient operation of the anaerobic digesters. This study is aimed at monitoring the bacterial community of three full-scale anaerobic digesters of a full-scale municipal wastewater treatment Plant in Dubai, United Arab Emirates. Fluorescent in-situ hybridization technique was applied to identify the bacterial groups and quantitative polymerase chain reaction to compare the richness of bacterial and archaeal domain. Results of the fluorescent in-situ hybridization technique analysis showed that the phylum Proteobacteria was most abundant followed by cytophage-Flavobacterium group of Bacteroides, Firmicutes and Actinobacteria. Among proteobacterial subclass Delta-and Alpha-were dominating than Gamma-and Beta-proteobacteria. The genus Desulfobacter and Desulfobacterium were the dominant groups hybridizing 70-76% of total 4', 6'diamidino-2 phenylindole stained cells. The quantitative polymerase chain reaction results showed that Bacterial domain was dominating in all three digesters compared to the archaeal domain.
Anaerobic digestion for methane production comprises of an exceptionally diverse microbial consor... more Anaerobic digestion for methane production comprises of an exceptionally diverse microbial consortium, a profound understanding about which is still constrained. In this study, the methanogenic archaeal communities in three full-scale anaerobic digesters of a Municipal Wastewater Treatment Plant were analyzed by Fluorescence hybridization and quantitative real-time Polymerase Chain Reaction (qPCR) technique. Fluorescence hybridization (FISH) was performed to detect and quantify the methanogenic in the sludge samples whereas qPCR was carried out to support the FISH analysis. Multiple probes targeting domain archaea, different orders and families of Archaea were used for the studies. In general, the aceticlastic organisms were more abundant than the hydrogenotrophic organisms . Both FISH and qPCR indicated that family was the most abundant suggesting that aceticlastic methanogenesis is probably the dominant methane production pathway in these digesters. Future work involving high-thro...
Anti-cancer agents in medicinal chemistry, Jan 18, 2017
Introduction Epidemiological studies indicate that diet rich in fruits and vegetables are associa... more Introduction Epidemiological studies indicate that diet rich in fruits and vegetables are associated with decreased cancer risk thereby indicating that dietary polyphenols can be potential chemo-preventive agents. The reversible nature of epigenetic modifications makes them a favorable target for cancer prevention. Polyphenols have been shown to reverse aberrant epigenetic patterns by targeting the regulatory enzymes, DNA methyltransferases (DNMTs) and histone deacetylases (HDACs). In vitro and in silico studies of DNMTs and HDACs were planned to examine genistein's role as a natural epigenetic modifier in human cervical cancer cells, HeLa. <P></P> Methods Expression of the tumour suppressor genes (TSGs) [MGMT, RARβ, p21, E-cadherin, DAPK1] as well the methylation status of their promoters were examined alongwith the activity levels of DNMT and HDAC enzymes after treatment with genistein. Expression of DNMTs and HDACs was also studied. In-silico studies were performe...
The association of Angiotensin Converting Enzyme (ACE) insertion-deletion (I/D) polymorphism with... more The association of Angiotensin Converting Enzyme (ACE) insertion-deletion (I/D) polymorphism with Type 2 Diabetes Mellitus (T2DM) and hypertension has been extensively studied throughout various ethnic populations but largely with inconsistent findings. We investigated these associations in Emirati population and their interaction with obesity status. Saliva samples were collected from a total of 564 Emiratis (277 T2DM and 297 healthy). DNA was extracted and the samples were genotyped forACEI/D polymorphism by a PCR based method followed by gel electrophoresis. Upon evaluation of theACEI/D polymorphism amongst all T2DM, hypertensive patients, and respective controls regardless of obesity status,ACEDD genotype was not found to be associated with either T2DM [odds ratio (OR) = 1.34,p=0.086] or hypertension [odd ratio (OR) = 1.02,p=0.93]. When the genetic variants amongst the nonobese and obese population were analyzed separately, the risk genotypeACEDD conferred significantly increase...
Haemoglobinopathies such as sickle cell anaemia are the commonest hereditary disorders and a seri... more Haemoglobinopathies such as sickle cell anaemia are the commonest hereditary disorders and a serious threat to general public health in India. It is a recessive autosomal disorder which is commonly encountered in heterozygous and homozygous form in India where it is prevalent in central Deccan plateau. The present study was undertaken to establish the prevalence of sickle cell anaemia and sickle cell trait in the tribal population of Chhattisgarh. The study included 1056 participants from tribal population of Chattisgarh, India who donated their blood samples. On the spot, solubility test was performed and the positive samples were confirmed by cellulose acetate Hb electrophoresis followed by HPLC. The data thus obtained was used to calculate the allele frequency of HbS trait among tribal population of Chhattisgarh and compared with other similar studies conducted around India. Sickle cell trait was detected in 20.2% of population whereas 1.2% was affected with sickle cell anaemia. ...
Background. Transcription factor 7-like 2 gene (TCF7L2) and peroxisome proliferator-activated rec... more Background. Transcription factor 7-like 2 gene (TCF7L2) and peroxisome proliferator-activated receptors-γ2 (PPAR-γ2) have a profound effect on the incidence of type 2 diabetes mellitus (T2DM) and had previously been found to be associated with T2DM risk in various ppopulations. However, studies in the Arab population are inconsistent. We conducted a case control study to confirm the association of variants rs10885409 ofTCF7L2andPro12Ala(rs1801282) ofPPAR-γ2with risk of T2DM and related complications in Emirati population of Arab origin. We also investigated the interaction of these associations with obesity status.Methods. DNA was extracted from the saliva samples of 272 T2DM patients and 216 nondiabetic Emiratis. Genotyping for rs10885409 (TCF7L2) and rs1801282 (PPAR-γ2 P12A) variants was accomplished with a TaqMan assay. The subgroups were constituted according to obesity status.Results. In the nonobese group, the rs10885409 C allele in the recessive model was significantly associ...
Genetic polymorphism of genes involved in renal salt handling and arterial vessel tone is conside... more Genetic polymorphism of genes involved in renal salt handling and arterial vessel tone is considered to be one of the causes of hypertension. Numerous reports suggest that cytochrome P4503A5 (CYP3A5) catalyzes 6β-hydroxylation of endogenous cortisol (CS), which is associated with sodium and water retention in the kidney and involved in the regulation of blood pressure. The purpose of the present study was to study the associations of single nucleotide polymorphisms in the CYP3A5 gene with the urinary 6β-hydroxycortisol/cortisol (6β-OH-CS/CS) ratio considered as quantitative phenotypes. CS measurements of three hundred (n=300) healthy, normotensive North Indian individuals was performed on morning spot urine samples by high-performance liquid chromatography. Furthermore, genotyping for CYP3A5*3 and CYP3A5*6 was performed by PCR-RFLP. The results indicated a unimodal distribution of CYP3A phenotypes in the North Indian population. In further analysis, all the phenotypes were distribut...
To phenotype 200 healthy North Indians for cytochrome P450 3A (CYP3A) activity by measuring urina... more To phenotype 200 healthy North Indians for cytochrome P450 3A (CYP3A) activity by measuring urinary ratio of 6β-OH-cortisol/cortisol (6β-OH-CS/CS) and to genotype the subjects demonstrating low and high CYP3A activity for the presence of CYP3 A4*1B, *2, *4, *5, *6 and *10 alleles. Methods: Morning spot urine samples were collected from 200 healthy North Indians. CS and 6β-OH-CS were extracted and quantified by HPLC. Genotyping was performed by polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP). Results: Urinary 6β-OH-CS/CS ratio demonstrated a mean of 52.0 ± 46 (1.1-290). North Indians demonstrated unimodal distribution with respect to urinary 6β-OH-CS/CS ratio. On the basis of phenotypes, the subjects were divided into three groups demonstrating low (n=50), intermediate (n=100) and high (n=50) CYP3A activity. These groups demonstrated 6β-OH-CS/CS ratio of 13.4 ± 5.2 (1.1-21.0), 40 ± 11.9 (21.2-63.2) and 114 ± 51.0 (66-290), respectively. One hundred subjects, 50 in the low and 50 in the high activity group, were genotyped for CYP3A4*1B, *2, *4, *5, *6 and *10. Only 2 heterozygotes with genotype CYP3A4*1/*1B were found in the high CYP3A activity group. CYP3A4*2, *4, *5, *6 and *10 were not found in the subjects studied. Conclusion: This is the first investigation establishing CYP3A phenotypes and demonstrating the absence of common CYP3A4 genotypes in North Indians.
Background: The polymorphism of Interleukin 1 receptor antagonist gene (IL-1RN), which encodes a ... more Background: The polymorphism of Interleukin 1 receptor antagonist gene (IL-1RN), which encodes a natural antagonist of pro-inflammatory cytokines belonging to IL-1 family and Haptoglobin (HP) have been studied in various ethnic groups in association with Type 2 Diabetes Mellitus (T2DM) risk and related complications. However, there was no study available among the Emirati population. Hence, we designed a combined study on IL-1RN and HP polymorphism to evaluate their association with prevalence of T2DM, related complication and hypertension and also its interaction with obesity status among Emirati population. Methods: IL-1RN and HP genotypes were determined in total 487 Emiratis divided in two groups of T2DM case (n = 271) and healthy controls (n = 215) by polymerase chain reaction (PCR) followed by gel electrophoresis. Gene-gene interaction and polymorphism-obesity interaction were determined by multivariate logistic regression analysis. Results: We found that the frequencies of IL-1RN*1/*1 and HP2-2 genotypes were significantly higher in cases than control and were associated with increased T2DM risk with an odds ratio (OR) of 1.60 (95 % CI 1.10-2.36) and 1.63 (95 % CI 1.11-2.64), respectively. The association lack any interaction with obesity status. Associations with occurrences of T2DM related complications and hypertension were not observed. Conclusions: We report an association of IL-1RN and HP polymorphism with T2DM risk independent of each other and of obesity status but no association with related complications and hypertension.
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Papers by Naushad Rais