Association of MTHFR polymorphisms with nsCL/P in Chinese Uyghur population

Abstract

BackgroundnsCL/P (nonsyndromic cleft lip with or without cleft palate) is a complex disorder with a multifactorial etiology that involves both genetic and environmental factors. A number of studies identified that MTHFR (methylenetetrahydrofolate reductase) was associated with nsCL/P in different populations. AimIn this study, we aim to investigate the association between the polymorphism in MTHFR gene (rs1801131, rs1801133) and nsCL/P in Chinese Uyghur population. Subjects and methodsWe conducted a case–control study comparing 120 nsCL/P patients to 100 controls. The distribution of MTHFR genotypes and frequency of alleles were compared between patients and controls by chi-square test. The odds ratios (OR) and corresponding 95% confidence intervals (95% CIs) were calculated to estimate the strength of association of MTHFR gene (C677T and A1298C). ResultsFor rs1801131, allele C frequency was higher in cases than in controls (30.4%>19.0%), and the difference was statistically significant (χ2=7.538, P=0.006). The genotype distribution at rs1801131 was different between cases (AC>AA>CC, 49.2%>45.0%>5.8%) and controls (AA>AC>CC, 65.0%>32.0%>3.0%), and the difference was statistically significant (χ2=8.883, P=0.012). AC genotype was found to increase the susceptibility of nsCL/P (OR=2.219, 95% CI=1.266–3.892, P=0.005). No association was found between rs1801133 and nsCL/P. ConclusionThis study indicated that rs1801131 polymorphism in MTHFR was associated with nsCL/P in Chinese Uyghur population. Given the unique genetic and environmental characters of the Uyghur population, these findings may be helpful for exploring the pathogenesis of this complex disease.