Egyptian Journal of Medical Human Genetics

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

Xianrong Xu, Huiwen Pan, Lei Yu, Yu Hong


Background: nsCL/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.
Aim: In 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 methods: We 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).
Results: For rs1801131, allele C frequency was higher in cases than in controls
(30.4% > 19.0%), and the difference was statistically significant (v2 =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 (v2= 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.
Conclusion: This 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.
AJOL African Journals Online