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• W2079919793 abstract "To the Editor: Methylenetetrahydrofolate reductase (MTHFR) catalyzes the reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, which is needed for methionine synthase to convert homocysteine to methionine. A reduction in MTHFR activity, such as that caused by the C→T missense mutation at position 677 of the MTHFR cDNA (C677T), which produces a thermolabile form of the enzyme, results in increased plasma homocysteine (Frosst et al., 1995Frosst P Blom HJ Milos R Goyette P Sheppard CA Matthews RG Boers GJH et al.A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase.Nat Genet. 1995; 10: 111-113Crossref PubMed Scopus (4920) Google Scholar). Homozygotes for the C677T mutation may have an increased risk of cardiovascular disease (Frosst et al., 1995Frosst P Blom HJ Milos R Goyette P Sheppard CA Matthews RG Boers GJH et al.A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase.Nat Genet. 1995; 10: 111-113Crossref PubMed Scopus (4920) Google Scholar) and neural tube defects (Wilcken, 1997Wilcken DEL MTHFR 677C-T mutation, folate intake, neural-tube defect and risk of cardiovascular disease.Lancet. 1997; 350: 603-604Abstract Full Text Full Text PDF PubMed Scopus (45) Google Scholar). Folate is an important cofactor in the conversion of homocysteine to methionine; therefore, C677T homozygotes may require more folate for thermolabile MTHFR to function adequately. Insufficient folate intake during pregnancy can cause neural tube defects (Smithells et al., 1980Smithells RW Sheppard S Schorah CJ Seller MJ Nevin NC Harris R Read AP et al.Possible prevention of neural-tube defects by periconceptional vitamin supplementation.Lancet. 1980; 1: 339-340Abstract PubMed Scopus (281) Google Scholar); however, the role of folate in vascular disease is not well established. Previous studies of the C677T mutation have concentrated on European populations. The allele frequency in Europeans is 24%–40% (van der Put et al., 1997van der Put NMJ Eskes TKAB Blom HJ Is the common 677C→T mutation in the methylenetetrahydrofolate reductase gene a risk factor for neural tube defects? A meta-analysis.Q J Med. 1997; 90: 111-115Crossref Scopus (213) Google Scholar), 26%–37% in Japanese populations (Papapetrou et al., 1996Papapetrou C Lynch SA Burn J Edwards YH Methylenetetrahydrofolate reductase and neural tube defects.Lancet. 1996; 348: 58Abstract Full Text Full Text PDF PubMed Scopus (77) Google Scholar; Sohda et al., 1997Sohda S Arinami T Hamada H Yamada N Hamaguchi H Kubo T Methylenetetrahydrofolate reductase polymorphism and pre-eclampsia.J Med Genet. 1997; 34: 525-526Crossref PubMed Scopus (189) Google Scholar), and ∼11% in an African American population (Stevenson et al., 1997Stevenson RE Schwartz CE Du Y-Z Adams Jr., MJ Differences in methylenetetrahydrofolate reductase genotype frequencies between whites and blacks.Am J Hum Genet. 1997; 60: 229-230PubMed Google Scholar). We have screened 881 unrelated individuals from 16 worldwide populations for the presence of the C677T polymorphism (table 1). The populations studied were chosen to complement the existing data set of the worldwide C677T allele frequency. The samples used in this study are anonymous and have been collected for ongoing studies of human genetic diversity. New primers used in this study (forward: 5′-TTT GAG GCT GAC CTG AAG CAC TTG AAG GAG-3′; and reverse: 5′-GAG TGG TAG CCC TGG ATG GGA AAG ATC CCG-3′) gave a PCR product of 173 bp and fragments of 125 and 48 bp after digestion with HinfI.Table 1World Distribution of the MTHFR MutationCountryNo.C/CC/TT/TT Allele Frequency (%)95% Confidence Range (%)Europe: United Kingdom944542718.613.0–25.9Africa: Central African Republic Bantu4436809.13.9–17.9 Pygmies87106.25.16–34.8 Gambia2421306.251.29–18.26 Kenya6155604.91.80–10.7 Madagascar97841306.73.6–11.4 Total2342033106.64.5–9.4Middle East: Yemen463114117.49.9–28.2Asia: French Polynesia (Chi nese ancestry)643825121.113.9–30.7 Hong Kong (Chinese)472219633.022.4–46.8 Maewo, Vanuatu71601018.54.4–14.8 Mongolia361320336.123.6–52.9 Palembang, Indonesia614218116.410.0–25.3 Total279175921220.817.2–24.9Asia Minor: Sri Lanka6761604.51.6–9.7Australasia: PNG Highlanders8577804.72.0–9.3Americas: Nu-Chah-Nulth372510218.910.3–31.7 Brazilian Amerindians391219844.931.2–62.4 Total7637291032.223.8–42.6 Grand Total881 Open table in a new tab The MTHFR polymorphism was found in every population tested. Unlike other mutations, such as factor V Leiden (Rees et al., 1995Rees DC Cox MJ Clegg JB World distribution of factor V Leiden.Lancet. 1995; 346: 1133-1134Abstract PubMed Google Scholar), Δccr5 (Martinson et al., 1997Martinson JJ Chapman NH Rees DC Liu Y-T Clegg JB Global distribution of the CCR5 gene 32-basepair deletion.Nat Genet. 1997; 16: 100-102Crossref PubMed Scopus (444) Google Scholar), and the HLA-H C282Y and H63D hemochromatosis mutations (Merryweather-Clarke et al., 1997Merryweather-Clarke AT Pointon JJ Shearman JD Robson KJH Global prevalence of putative haemochromatosis mutations.J Med Genet. 1997; 34: 275-278Crossref PubMed Scopus (679) Google Scholar), which are common only in Europe, the C677T mutation has a relatively high frequency throughout the world. The prevalence of the C677T mutation is lowest in Africa (6.6%) compared with Europe and Asia, although there are unexpected findings such as 44.9% in an indigenous Brazilian population and 4.5% in a group of Sri Lankans. All of the populations in this study were in Hardy-Weinberg equilibrium. Both myocardial infarction (Murray and Lopez, 1996Murray CJL Lopez AD Global health statistics. Harvard University Press, Cambridge, MA1996Google Scholar) and neural tube defects (Sever, 1982Sever LE An epidemiologic study of neural tube defects in Los Angeles County. II. Etiologic factors in an area with low prevalence at birth.Teratology. 1982; 25: 323-334Crossref PubMed Scopus (45) Google Scholar) are believed to be more prevalent in Europeans than in Africans. In developed countries where most people are of European origin, the incidence of myocardial infarction is >5 times greater than in sub-Saharan Africa, and the prevalence rate for neural tube defects in whites is 1.5 times higher than in blacks in U.S. populations. Although environmental factors and other genetic factors clearly play an important role, the geographical pattern of the C677T allele frequency supports the hypothesis that it is a risk factor for vascular disease and neural tube defects. The high frequency of the C677T mutation worldwide is surprising if homozygotes have an increased risk of disease. One possible explanation is that either heterozygous or homozygous mutant genotypes may, in certain circumstances, have a selective advantage over normal individuals. Two such theories have been suggested: a decreased risk of C677T homozygotes for colon cancer (Chen et al., 1996Chen J Giovannucci E Kelsey K Rimm EB Stampfer MJ Colditz GA Spiegelman D et al.A methylenetetrahydrofolate reductase polymorphism and the risk of colorectal cancer.Cancer Res. 1996; 56: 4862-4864PubMed Google Scholar) and a beneficial effect to heterozygotes during times of starvation (Engbersen et al., 1995Engbersen AMT Franken DG Boers GJH Stevens EMB Trijbels FJM Blom HJ Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia.Am J Hum Genet. 1995; 56: 142-150PubMed Google Scholar). In the second hypothesis, the thermolabile form of MTHFR is believed to decrease homocysteine remethylation so that the 1-carbon moieties of derivatives remain available for the vital synthesis of purines and thymidine. The increased incidence of disease caused by the C677T mutation may only have been mildly deleterious to human populations. This could allow the C677T mutation to behave as an effectively neutral polymorphism so that demographic effects such as genetic drift could outweigh slight negative selection. Populations that had high frequencies of the C677T mutation and have been small in the past would be most susceptible to this effect (Thompson and Neel, 1997Thompson EA Neel JV Allelic disequilibrium and allele frequency distribution as a function of social and demographic history.Am J Hum Genet. 1997; 60: 197-204PubMed Google Scholar). The correlation between the frequency of myocardial infarction and neural tube defects with the allele frequencies presented here is consistent with the hypothesis that the C677T mutation is a risk factor for these diseases. Further study about the genetic, medical, and nutritional factors affecting the MTHFR polymorphism, as well as a better understanding of human demographic history, is needed to explain its high frequency and widespread distribution. We are grateful to V. Chen, D. Higgs, A. Hill, J. Guerrerio, J. Old, N. Neary, J. Roux, A. Sofro, B. Sykes, D. Tumen, and R. Ward, for access to DNA samples, and to the Wellcome Trust, for support." @default.
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• W2079919793 title "Worldwide Distribution of a Common Methylenetetrahydrofolate Reductase Mutation" @default.
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