Genetic variation in genes involved in folate and drug metabolism in a south Indian population.

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dc.contributor.authorRai, Padmalatha S
dc.contributor.authorMurali, T S
dc.contributor.authorVasudevan, T G
dc.contributor.authorPrasada, Shama K
dc.contributor.authorBhagavath, Ashok Kumar
dc.contributor.authorPai, Pranita
dc.contributor.authorGopinath, P M
dc.contributor.authorSatyamoorthy, K
dc.date.accessioned2012-06-12T06:32:26Z
dc.date.available2012-06-12T06:32:26Z
dc.date.issued2011-05
dc.description.abstractBACKGROUND: Genetic variations represented as single nucleotide polymorphisms (SNPs) vary across the world population. This genetic polymorphism (such as SNPs) plays an important role in pharmacogenomics. SNPs that affects cellular metabolism, by altering the enzyme activity, have an important role in therapeutic outcome. Allele frequencies in number of clinically relevant SNPs within south Indian populations are not yet known. Hence, we genotyped randomly selected unrelated south Indian subjects from different locations of south India representing the heterogeneous ethnic background of the population. MATERIALS AND METHODS: Common variants of MTHFD1, TYMS, SHMT1, MTR, MTRR, CBS and SULT1A1 gene polymorphisms were screened from healthy unrelated south Indian volunteers. Genotypes were determined using RFLP analysis of polymerase chain reaction-amplified products and confirmed by DNA sequencing. Chi-square test was performed to test for deviation from the Hardy-Weinberg equilibrium for each locus. RESULTS: Gene allele frequency for several polymorphisms in our study differed significantly between the populations of other nations reported for several of the SNPs. These results demonstrate that the populations in different geographic regions may have widely varying genetic allele frequencies for clinically relevant SNPs. CONCLUSION: The present study reports, for the first time, the frequency distribution of MTHFD1, TYMS, SHMT1, MTR, MTRR, CBS and SULTIA1 gene polymorphisms in a south Indian population. Population-specific genetic polymorphism studies will help in practicing pharmacogenomic principles in the clinics.en_US
dc.identifier.citationRai Padmalatha S, Murali T S, Vasudevan T G, Prasada Shama K, Bhagavath Ashok Kumar, Pai Pranita, Gopinath P M, Satyamoorthy K. Genetic variation in genes involved in folate and drug metabolism in a south Indian population. Indian Journal of Human Genetics. 2011 May; 17(Suppl 1): 48-53.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/138984
dc.language.isoenen_US
dc.source.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3125048/en_US
dc.subjectMTHFD1en_US
dc.subjectTYMSen_US
dc.subjectSHMT1en_US
dc.subjectMTRen_US
dc.subjectMTRRen_US
dc.subjectCBSen_US
dc.subjectSULT1A1en_US
dc.subjectpolymorphismen_US
dc.subjectsouth Indianen_US
dc.subject.mesh5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase --genetics
dc.subject.meshArylsulfotransferase --genetics
dc.subject.meshCystathionine beta-Synthase --genetics
dc.subject.meshFerredoxin-NADP Reductase --genetics
dc.subject.meshFolic Acid --genetics
dc.subject.meshGenetic Variation --genetics
dc.subject.meshGlycine Hydroxymethyltransferase --genetics
dc.subject.meshHumans
dc.subject.meshMethylenetetrahydrofolate Dehydrogenase (NADP)--genetics
dc.subject.meshPharmaceutical Preparations --metabolism
dc.subject.meshPolymorphism, Genetic
dc.subject.meshPopulation Groups
dc.subject.meshThymidylate Synthase --genetics
dc.subject.otherIndia
dc.titleGenetic variation in genes involved in folate and drug metabolism in a south Indian population.en_US
dc.typeArticleen_US
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