Variable contribution of the MTHFR C677T polymorphism to non-syndromic cleft lip and palate risk in China.
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.
Institute of Reproductive Health, Peking University Health Science Center, Beijing, China. zhujh@ncmih.bjmu.edu.cn
JiangHui
J
Zhu
AiGuo
A
Ren
Ling
L
Hao
LiJun
L
Pei
JianMeng
J
Liu
HuiPing
H
Zhu
Song
S
Li
Richard H
RH
Finnell
Zhu
Z
Li
D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D002681:China; D002971:Cleft Lip / Q000201:enzymology / Q000235:genetics*; D002972:Cleft Palate / Q000201:enzymology / Q000235:genetics*; D005260:Female; D005492:Folic Acid / Q000008:administration & dosage / Q000627:therapeutic use; D005787:Gene Frequency; D005838:Genotype; D005843:Geography; D006801:Humans; D007231:Infant, Newborn; D015810:Linkage Disequilibrium; D016015:Logistic Models; D008297:Male; D008423:Maternal Age; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009679:Nuclear Family; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D011795:Surveys and Questionnaires; D013577:Syndrome; D014803:Vitamin B Complex / Q000008:administration & dosage / Q000627:therapeutic use
D014803:Vitamin B Complex; D005492:Folic Acid; D042965:Methylenetetrahydrofolate Reductase (NADPH2)