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Variable contribution of the MTHFR C677T polymorphism to non‐syndromic cleft lip and palate risk in China
Author(s) -
Zhu JiangHui,
Ren AiGuo,
Hao Ling,
Pei LiJun,
Liu JianMeng,
Zhu HuiPing,
Li Song,
Finnell Richard H.,
Li Zhu
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31115
Subject(s) - methylenetetrahydrofolate reductase , offspring , genetics , allele , medicine , craniofacial , chinese population , risk factor , population , china , genotype , demography , pregnancy , biology , gene , environmental health , geography , archaeology , sociology
Non‐syndromic cleft lip with or without cleft palate (nsCL/P) is one of the most common craniofacial malformations among newborn infants. It has been demonstrated that periconceptional folic acid supplementation may reduce the occurrence of offspring with clefts, particularly in the North China; however, the mechanism remains unknown. Our study of a thermolabile polymorphism (C677T) of methylenetetrahydrofolate reductase ( MTHFR ) gene in 170 Chinese case‐parent triads revealed a moderate association between this MTHFR polymorphism and nsCL/P in a population from North China, but not in a population from South China. Moreover, the study revealed that the heterozygous parents in the North were about twice as likely to transmit the high‐risk T allele to affected cases, as that observed in the South (OR = 2.24, 95% CI: 1.08–4.65). Thus, the MTHFR polymorphism is a significant risk factor for nsCL/P in this Northern Chinese population. Our study suggested possible genetic heterogeneity in the development of nsCL/P among Northern and Southern populations in China. © 2006 Wiley‐Liss, Inc.