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Methylenetetrahydrofolate Reductase C677T and A1298C Polymorphisms and Risk of Down Syndrome

Korean Journal of Pediatrics 2004;47(10):1053-1057.
Published online October 15, 2004.
Methylenetetrahydrofolate Reductase C677T and A1298C Polymorphisms and Risk of Down Syndrome
Kyu Young Chae1, Jin Hee Han2, Ji Yeong Seo1, Min Jung Cho1, Sehyun Kim3, Nam Keun Kim2
1Department of Pediatrics, College of Medicine, Pochon CHA University, Seongnam, Korea
2Department of Institute for Clinical Research, College of Medicine, Pochon CHA University, Seongnam, Korea
3Department of Preventive Medicine, College of Medicine, Pochon CHA University, Seongnam, Korea
Methylenetetrahydrofolate Reductase C677T와 A1298C 유전자 다형과 다운 증후군 발생 관련성에 대한 연구
채규영1, 한진희2, 서지영1, 조민정1, 김세현3, 김남근2
1포천중문의과대학교 소아과학교실
2포천중문의과대학교 임상의학연구소
3포천중문의과대학교 예방의학교실
Correspondence: 
Nam Keun Kim, Email: nkkim@cha.ac.kr
Abstract
Purpose
: The C677T polymorphism of the methylenetetrahydrofolate reductase(MTHFR) has been suggested as a risk factor of maternal meiotic nondisjunction for Down syndrome. Recently, a second genetic polymorphism in MTHFR at position 1298 was reported. However, a positive association between the A1298C MTHFR polymorphism and Down syndrome has not been reported. Therefore, this study was undertaken to determine which polymorphism of MTHFR gene was associated with the increased risk of a child suffering from Down syndrome(DS).
Methods
: We enrolled 33 patients with Down syndrome and 100 healthy individuals and analyzed the MTHFR C677T and A1298C polymorphism by a PCR-restriction fragment length assay.
Results
: Frequencies of MTHFR C677T genotypes(CC, CT, and TT) were 9(27%), 22(67%), and 2 (6%) in the DS patients and 24(24%), 55(55%) and 21(21%) in the control, respectively. The frequency of mutant 677TT was significantly low in the DS patients(OR : 0.14; 95% CI : 0.02-0.95; P= 0.04). For the MTHFR A1298C polymorphism, frequencies of genotypes(AA, AC, and CC) were 16(48 %), 15(45%) and 1(3%) in DS patients and 77(77%), 21(21%) and 2(2%) in the control, respectively. The frequency of mutant 1298AC was significantly increased in DS patients with an odds ratio of 3.3(95% CI : 1.39-7.82; P=0.007).
Conclusion
: Our results suggest that MTHFR mutant 677TT may have a protective effect against Down syndrome, but MTHFR mutant 1298AC may be an independent risk factor in Down syndrome.
Key Words: Down syndrome, MTHFR, Polymorphism


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