Polymorphisms in MTHFR, MS and CBS Genes and Homocysteine Levels in a Pakistani Population 英文参考文献.docVIP

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Polymorphisms in MTHFR, MS and CBS Genes and Homocysteine Levels in a Pakistani Population 英文参考文献.doc

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Polymorphisms in MTHFR, MS and CBS Genes and Homocysteine Levels in a Pakistani Population 英文参考文献

PolymorphismsinMTHFR,MSandCBSGenesand HomocysteineLevelsinaPakistaniPopulation MohsinYakub1,NaushadMoti1,SiddiqaParveen1,BushraChaudhry1,IqbalAzam2 ,Mohammad PerwaizIqbal1* 1DepartmentofBiologicalandBiomedicalSciences,AgaKhanUniversity,Karachi,Pakistan,2DepartmentofCommunityHealthSciences,AgaKhanUniversity,Karachi, Pakistan Abstract Background: Hyperhomocysteinemia (.15mmol/L) is highly prevalent in South Asian populations including Pakistan. In order to investigate the genetic determinants of this condition, we studied 6 polymorphisms in genes of 3 enzymes - methylenetetrahydrofolate reductase (MTHFR; C677T; A1298C), methionine synthase (MS; A2756G), cystathionine-b- synthase (CBS; T833C/844ins68, G919A) involved in homocysteine metabolism and investigated their interactions with nutritionalandenvironmentalfactorsinaPakistanipopulation. Methodology/Principal Findings: Inacross-sectional survey, 872healthyadults(355 malesand517females;age 18–60 years)wererecruitedfromalow-incomeurbanpopulationinKarachi.Fastingvenousbloodwasobtainedandassessedfor plasma/serumhomocysteine;folate,vitaminB12,pyridoxalphosphateandbloodlead.DNAwasisolatedandgenotyping was performed by PCR-RFLP (restriction-fragment-length- polymorphism) based assays. The average changes in homocysteine levels for MTHFR 677CT and TT genotypes were positive [b(SE b), 2.01(0.63) and 16.19(1.8) mmol/L, respectively].ContrarytoMTHFRC677Tpolymorphism,theaveragechangesinplasmahomocysteinelevelsforMS2756AG andGGvariantswerenegative[b(SEb),20.56(0.58)and20.83(0.99)mmol/L,respectively].Theaveragechangeoccurring for CBS 844ins68 heterozygous genotype (ancestral/insertion) was 21.88(0.81) mmol/L. The combined effect of MTHFR C677T,MSA2756GandCBS844ins68genotypesforplasmahomocysteinelevelswasadditive(pvalue,0.001).Oddsof havinghyperhomocysteinemiawithMTHFR677TTgenotypewas10-foldcomparedtoMTHFR677CCgenotype[OR(95%CI); 10.17(3.6–28.67)]. Protective effect towards hyperhomocysteinemia was observed with heterozygo