Association of methylenetetrahydrofolate reductase A1298C polymorphisms with non-syndromic cleft lip with or without cleft palate
- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF STOMATOLOGY
- Issue:
- 7
- DOI:
- 10.3760/cma.j.issn.1002-0098.2011.07.003
- Key Word:
- 亚甲基四氢叶酸还原酶;唇裂;腭裂;Methylenetetrahydrofolate reductase;Cleft lip;Cleft palate
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.
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