Association of methylenetetrahydrofolate reductase A1298C polymorphisms with non-syndromic cleft lip with or without cleft palate
10.3760/cma.j.issn.1002-0098.2011.07.003
- VernacularTitle:非综合征性唇腭裂与亚甲基四氢叶酸还原酶基因A1298C相关性的研究
- Author:
Ying HU
1
;
Wei HOU
;
Er-Jun CHEN
;
Xin-Hua LIU
;
Chun-Lin HOU
;
Xin-Hua ZHANG
Author Information
1. 首都医科大学口腔医学院
- Keywords:
Methylenetetrahydrofolate reductase;
Cleft lip;
Cleft palate
- From:
Chinese Journal of Stomatology
2011;46(7):394-397
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the association between a polymorphism of methylenetetrahydrofolate reductase with Non-syndromic cleft lip with or without cleft palate(NSCL/P)in Chinese population. Methods The polymerase chain reaction (PCR)-based restriction fragment length polymorphism(RFLP)technique was used to detect a single nucleotide polymorphism(SNP), rs1801131, at the methylenetetrahydrofolate reductase(MTHFR)gene in both 158 patients with NSCL/P and 192 healthy individuals. The Hardy-Weinberg equilibrium for genotypic distributions was estimated by the goodness-of-fit test. The UNPHASED program was applied to perform the association analysis. Results The genotypic distribution of A1298C was not deviated from the Hardy-Weinberg equilibrium in both controls and patients. No association was found between cleft lip with or without palate(CL/P)and controls. There was significant difference of cleft palate only(CPO)and the healthy individuals(χ2＝4.256, P=0.039). The frequency of AC+CC genotype was higher in control group than that in CPO group(OR=0.8, 95%CI=0.381-1.683),26 among 100 healthy individuals carried AC+CC genetypes,which were carried by 22% of CPO patients. Conclusions The polymorphism of MTHFR A1298C may be involved in the occurrence of non-syndromic cleft palate only in Chinese population.
