Genotype prevalence and allele frequencies of 5,10- methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms in Italian newborns

Laboratory Medicine

Volumn 40, Issue 12, 2009, Pages 732-736

  Zappacosta, Bruno ^a   Romano, Lucio ^a   Persichilli, Silvia ^b   Cutrone, Luigi A ^c   Graziano, Mirella ^a   Vitrani, Antonia ^a   Di Castelnuovo, Augusto ^a   Giardina, Bruno ^b,d   Musumeci, Salvatore ^e   Mastroiacovo, Pierpaolo ^f  

^a CATHOLIC UNIVERSITY   (Italy)

^b FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

^c General Hospital   (Italy)

^d CATHOLIC UNIVERSITY   (Italy)

^e UNIVERSITY OF CATANIA   (Italy)

^f International Centre on Birth Defects   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); FOLIC ACID; HOMOCYSTEINE;

ARTICLE; CARDIOVASCULAR DISEASE; CONGENITAL DISORDER; DNA POLYMORPHISM; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENOTYPE; HUMAN; HYPERHOMOCYSTEINEMIA; ITALY; MAJOR CLINICAL STUDY; MALE; NEWBORN; POLYMERASE CHAIN REACTION; PREGNANCY COMPLICATION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

EID: 77951965532     PISSN: 00075027     EISSN: None     Source Type: Journal    
DOI: 10.1309/LMBES080OMMANDOZ     Document Type: Article

References (40)

1. Refsum H, Nurk E, Smith AD, et al. The Hordaland Homocysteine Study: A community-based study of homocysteine, its determinants and associations with disease. J Nutr. 2006;136:1731-1740. (Pubitemid 43765389)
2. Bailey LB, Gregory JF. Folate metabolism and requirements. J Nutr. 1999;129:779-782.
3. Lonn E, Yusuf S, Arnold MJ, et al. Heart Outcomes Prevention Evaluation (HOPE) 2 Investigators. Homocysteine lowering with folic acid and B vitamins in vascular disease. N Engl J Med. 2006;354:1567-1577.
4. Mills JL, Signore C. Neural tube defect rates before and after food fortification with folic acid. Birth Defects Res A Clin Mol Teratol. 2004;70:844-845. (Pubitemid 39610502)
5. Yang Q, Botto LD, Erickson JD, et al. Improvement in stroke mortality in Canada and the United States, 1990 to 2002. Circulation. 2006;113:1335-1343.
6. Kang SS, Zhou J, Wong PW, et al. Intermediate homocysteinemia: A thermolabile variant of methylenetetrahydrofolate reductase. Am J Hum Genet. 1988;43:414-421.
7. Weisberg I, Tran P, Christensen B, et al. Second genetic polymorphism in methylentetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol Genet Metab. 1998;64:169-172. (Pubitemid 28453294)
8. Castro R, Rivera I, Ravasco P, et al. 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C>T and 1298A>C mutations are associated with DNA hypomethylation. J Med Genet. 2004;41:454-458. (Pubitemid 38788042)
9. Heijmans BT, Boer JM, Suchiman HE, et al. A common variant of the methylenetetrahydrofolate reductase gene (1p36) is associated with an increased risk of cancer. Cancer Res. 2003;63:1249-1253. (Pubitemid 36348702)
10. Andreassi MG, Botto N, Cocci F, et al. Methylenetetrahydrofolate reductase gene C677T polymorphism, homocysteine, vitamin B12, and DNA damage in coronary artery disease. Hum Genet. 2003;112:171-177. (Pubitemid 36869100)
11. Wilcken B, Bamforth F, Li Z, et al. Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): Findings from over 7,000 newborns from 16 areas worldwide. J Med Genet. 2003;40:619-625. (Pubitemid 37046918)
12. Chillemi R, Angius A, Persico I, et al. Methylenetetrahydrofolate reductase (MTHFR) from Mediterranean to Subsaharan areas. Online Journal of Biological Sciences. 2005;6:28-34.
13. Frosst P, Blom HJ, Milos R, et al. A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase. Nat Genet. 1995;10:111-113.
14. Van der Put NMJ, Gabreels F, Stevens EM, et al. A second common mutation in the methylenetetrahydrofolate reductase gene: An additional risk factor for neural-tube defects? Am J Hum Genet. 1998;62:1044-1051. (Pubitemid 28199004)
15. Terwilliger JD, Ott J. Linkage disequilibrium between alleles at marker loci. In: Handbook of Human Genetic Linkage. Baltimore, MD: The Johns Hopkins University Press; 1994:188-198.
16. D'Uva M, Di Micco P, Strina I, et al. Hyperhomocysteinemia in women with unexplained sterility or recurrent early pregnancy loss from Southern Italy: A preliminary report. Thromb J. 2007;5:10-15. (Pubitemid 47226202)
17. Cattaneo M. Hyperhomocysteinemia and thrombosis. Lipids. 2001;36:S13-S26.
18. Verkleij-Hagoort A, Bliek J, Sayed-Tabatabaei F, et al. Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects: A meta-analysis. Am J Med Genet A. 2007;143:952-960. (Pubitemid 46700901)
19. Boccia S, Hung R, Ricciardi G, et al. Meta- and pooled analyses of the methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and gastric cancer risk: A Huge-GSEC review. Am J Epidemiol. 2008;167:505-516. (Pubitemid 351323315)
20. Kang SS, Wong PWK. Genetic and nongenetic factors for moderate hyperhomocyst(e)inemia. Atherosclerosis. 1996;119:135-138.
21. De Marco P, Calevo MG, Moroni A, et al. Study of MTHFR and MS zpolymorphisms as risk factors for NTD in the Italian population. J Hum Genet. 2002;47:319-324. (Pubitemid 34717619)
22. Girelli D, Friso S, Trabetti E, et al. Methylenetetrahydrofolate reductase C677T mutation, plasma homocysteine, and folate in subjects from northern Italy with or without angiographically documented severe coronary atherosclerotic disease: Evidence for an important genetic-environmental interaction. Blood. 1998;91:4158-4163. (Pubitemid 28261978)
23. Terrazzi P, Di Micco P, Quaglia I, et al. Homocysteine, MTHFR C677T gene polymorphism, folic acid and vitamin B12 in patients with retinal vein occlusion. Thromb J. 2005;3:13-18. (Pubitemid 41529236)
24. Pezzini A, Del Zotto E, Archetti S, et al. Plasma homocysteine concentration, C677T MTHFR genotype, and 844ins68bp CBS genotype in young adults with spontaneous cervical artery dissection and atherothrombotic stroke. Stroke. 2002;33:664-669. (Pubitemid 34203986)
25. Sacchi E, Tagliabue L, Duca F, et al. High frequency of the C677T mutation in the Methylenetetrahydrofolate reductase (MTHFR) gene in Northern Italy. Thromb Haemost. 1997;78:963-964.
26. D'Angelo A, Coppola A, Madonna P, et al. The role of vitamin B12 in fasting hyperhomocysteinemia and its interaction with the homozygous C677T mutation of the methylenetetrahydrofolate reductase (MTHFR) gene. Thromb Haemost. 2000;83:563-570.
27. Bottini F, Celle ME, Calevo MG, et al. Metabolic and genetic risk factors for migraine in children. Cephalalgia. 2006;26:731-737. (Pubitemid 43909245)
28. Tosetto A, Missiaglia E, Frezzato M, et al. The VITA project: C677T mutation in the methylene-tetrahydrofolate reductase gene and risk of venous thromboembolism. Br J Haematol. 1997;97:804-806. (Pubitemid 27321378)
29. Abbate R, Sardi I, Pepe G, et al. The high prevalence of thermolabile 5-10 zmethylenetetrahydrofolate reductase (MTHFR) in Italians is not associated to an increased risk for coronary artery disease (CAD). Thromb Haemost. 1998;79:727-730. (Pubitemid 28163843)
30. Cafolla A, Dragoni F, Puopolo M, et al. Folate status and homocysteine level in Italian patients aged under 60 on oral anticoagulant therapy. Ann Med. 2003;35:140-144. (Pubitemid 36638215)
31. Scala I, Granese B, Sellitto M, et al. Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring. Genet Med. 2006;8:409-416. (Pubitemid 44289003)
32. Grandone E, Margaglione M, Colaizzo D, et al. Factor V Leiden, C>T MTHFR polymorphism and genetic susceptibility to preeclampsia. Thromb Haemost. 1997;77:1052-1054. (Pubitemid 27311967)
33. Grandone E, Corrao AM, Colaizzo D, et al. Homocysteine metabolism in families from southern Italy with neural tube defects: Role of genetic and nutritional determinants. Prenat Diagn. 2006;26:1-5. (Pubitemid 43189322)
34. Guéant-Rodriguez RM, Guéant JL, Debard R, et al. Prevalence of methylenetetrahydrofolate reductase 677T andA1298C alleles and folate status: A comparative study in Mexican, West African and European populations. Am J Clin Nutr. 2006;83:701-707. (Pubitemid 44699219)
35. Bosco P, Guéant-Rodriguez RM, Anello G, et al. Association of homocysteine (but not of MTHFR 677C>T, MTR 2756 A>G, MTRR 66 A>G and TCN2 776 C>G) with ischaemic cerebrovascular disease in Sicily. Thromb Haemost. 2006;96:154-159. (Pubitemid 44219382)
36. Isotalo PA, Wells GA, Donnelly JG. Neonatal and fetal methylenetetrahydrofolate reductase genetic polymorphism: An examination of C677T and A1298C mutations. Am J Hum Genet. 2000;67:986-990.
37. Zetterberg H, Regland B, Palmer M, et al. Increased frequency of combined methylenetetrahydrofolate reductase C677T and A1298C mutated alleles in spontaneous aborted embryos. Eur J Hum Genet. 2002;10:113-118. (Pubitemid 34414045)
38. de Franchis R, Buoninconti A, Mandato C, et al. The C677T mutation of the 5,10-methylentetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy. J Med Genet. 1998;35:1009-1013. (Pubitemid 28534674)
39. ISTAT - Istituto Nazionale di Statistica. Deaths and standardized mortality rates in Italy per sex and DRGs (years 2003, 2006). General tables and regional tables. Available at: http://www.istat.it/dati/dataset/20080630-01/. Accessed May 14, 2009.
40. Tsai MY, Loria CM, Cao J, et al. Clinical utility of genotyping the 677C>T variant of methylenetetrahydrofolate reductase in humans is decreased in the post-folic acid fortification era. J Nutr. 2009;139:33-37.