MTHFR gene variants C677T, A1298C and association with Down syndrome: A case-control study from South India

Indian Journal of Human Genetics

Volumn 15, Issue 2, 2009, Pages 60-64

  Cyril, Cyrus ^a   Rai, Padmalatha ^b   Chandra, N ^b   Gopinath, P M ^b   Satyamoorthy, K ^b  

^a UNIVERSITY OF MADRAS   (India)

^b MANIPAL UNIVERSITY   (India)

Author keywords

Down syndrome; MTHFR polymorphisms; Nondisjunction; Trisomy 21

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2);

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DOWN SYNDROME; FATHER; FEMALE; GENE FREQUENCY; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC SCREENING; GENOTYPE; HUMAN; INDIA; MALE; MOTHER; PRESCHOOL CHILD; RISK ASSESSMENT; SCHOOL CHILD; TRISOMY 21;

EID: 70249132588     PISSN: 09716866     EISSN: 19983611     Source Type: Journal    
DOI: 10.4103/0971-6866.55217     Document Type: Article

References (25)

1. James SJ, Pogribna M, Pogribny I, Melnyk S, Hine RJ, Gibson JB, et al. Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase (MTHFR) gene may be maternal risk factors for Down syndrome. Am J Clin Nutr 1999;70:495-501.
2. Hobbs CA, Sherman SL, Yi P, Hopkins SE, Torfs CP, Hine RJ. Polymorphisms in genes involved in folate metabolism as maternal risk factors for DS. Am J Hum Genet 2000;67:623-30.
3. O.Leary VB, Parle-McDermott, A, Molloy AM, Kirke PN, Johnson Z, Conley M, et al. MTRR and MTHFR polymorphism: Link to Down syndrome? Am J Med Genet 2002;107:151-5.
4. Stuppia L, Gatta V, Gaspari AR, Antonucci I, Morizio E, Calabrese G, et al. C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy. Eur J Hum Genet 2002;10:388-90.
5. Yanamandra K, Bocchini JA Jr, Thurmon TF. Absence of association of fetal MTHFR C677T polymorphism with prenatal Down syndrome pregnancies. Eur J Hum Genet 2003;11:5-5.
6. Coppede F, Marini G, Bargagna S, Stuppia L, Minichilli F, Fontana I, et al. Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women. Am J Med Genet 2006;140A:1083-91.
7. Rai AK, Singh S, Mehta S, Kumar A, Pandey LK, Raman R.MTHFR C677T and A1298C polymorphisms are risk factors for Down.s syndrome in Indian mothers. J Hum Genet 2006;51:278-83.
8. Scala I, Granese B, Sellitto M, Salome S, Sammartino A, Pepe A, et al. Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring. Genet Med 2006;8:409-16.
9. Dutta S, Das AB, Mukhopadhyay K. Risk of Down syndrome conferred by MTHFR C677T polymorphism: Ethnic variations. Ind J Hum Genet 2007;13:76-7
10. Kohli U, Arora S, Kabra M, Ramakrishnan L, Gulati S, Pandey RM. Prevalence of MTHFR C677T polymorphism in north Indian mothers having babies with Trisomy 21 Down syndrome. Downs SynDr. Res Pract 2008;12:133-7.
11. Mukhopadhyay K, Dutta S, Das Bhomik A. MTHFR gene polymorphisms analyzed in population from Kolkata, West Bengal. Ind J Hum Genet 2007;13:38-8.
12. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acid Res 1988;16:1215.
13. Meguid NA, Dardir AA, Khass M, El Hossieny L, Ezzat A, El Awady MK. MTHFR genetic polymorphism as a risk factor in Egyptian mothers with Down syndrome children. Disease Markers 2008;24:19-26.
14. Boduroglu K, Alanay Y, Koldan B, Tuncbilek E. Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for Down syndrome among Turkish women. Amer J Med Genet 2004;127A:5-10.
15. Chango A, Fillon-Emery N, Mircher C, Blehaut H, Lambert D, Herbeth B, et al. No association between common polymorphisms in genes of folate and homocysteine metabolism and tehe risk of Down.s syndrome among French mothers. Br J Nutri 2005;94:166-9.
16. Devi AR, Govindaiah V, Ramakrishna G, Naushad SM. Prevalence of methylene tetrahydrofolate reductase polymorphism in South Indian population. Current Science 2004;86:440-3.
17. James SJ. Maternal metabolic phenotype and risk of Down syndrome: Beyond genetics. Am J Med Genet 2004;127A:1-4.
18. Wilcken B, Bamforth F, Li Z, Zhu H, Ritvanen A, Renlund M, et al. Geographical and ethnic variation of the 677 C→T allele of 5,10-MTHFR: Findings from over 7000 newborns from 16 areas world wide. J Med Genet 2003;40:619-25.
19. Ranjith N, Pegoraro RJ, Rom L. Risk factors and methylenetetrahydrofolate reductase gene polymorphisms in a young South African Indian-based population with acute myocardial infarction. Cardiovasc J S Afr 2003;14:127-32.
20. Mukherjee M, Joshi S, Bagadi S, Dalvi M, Rao A, Shetty KR. A low prevalence of the C677T mutation in the methylenetetrahydrofolate reductase gene in Asian Indians. Clin Genet 2002;61:155-9.
21. Nair KG, Nair SR, Ashavaid TF, Dalal JJ, Eghlim FF. Methylenetetrahydrofolate reductase gene mutation and hyperhomocysteinemia as a risk factor for coronary heart disease in the Indian population. J Assoc Physicians India 2002;50:9-15.
22. Angeline T, Jeyaraj N, Granito S, Tsongalis GJ. Prevalence of MTHFR gene polymorphisms (C677T and A1298C) among Tamilians. Exp Mol Pathol 2004;7:85-8.
23. Kumar J, Das SK, Sharma P, Karthikeyan G, Ramakrishnan L, Sengupta S. Homocysteine levels are associated with MTHFR A1298C polymorphism in Indian population. J Hum Genet 2005;50:655-63.
24. Abu-Amero KK, Wyngaard CA, Dzimiri N. Prevalence and role of methylenetetrahydrofolate reductase 677 C->T and 1298 A->C polymorphisms in coronary artery disease in Arabs. Arch Pathol Lab Med 2003;127:1349-52.
25. Biselli JM, Goloni-Bertollo EM, Zampieri BL, Haddad R, Eberlin MN, Pavarino-Bertelli EC. Genetic polymorphisms involved in folate metabolism and elevated plasma concentrations of homocysteine: Maternal risk factors for Down syndrome in Brazil. Genet Mol Res 2008;7:33-42.