潮汕地区汉族人群MTHFR基因rs1801131多态性与非综合征型唇腭裂的相关性研究

Associations between MTHFR rs1801131 polymorphisms and non-syndromic cleft lips with or without cleft palates in a Han population,Chaoshan,China

目的:研究5,10-亚甲基四氢叶酸还原酶(MTHFR)基因rs1801131位点多态性与潮汕地区汉族人群非综合征型唇腭裂(NSCL/P)的相关性。方法:收集潮汕地区汉族人群NSCL/P患儿357名、患儿父亲199名、患儿母亲198名及健康对照者354名的外周血,提取基因组DNA,应用基质辅助激光解吸电离飞行时间质谱技术检测MTHFR基因rs1801131位点的基因多态性。采用卡方检验对病例组与正常对照组基因型、等位基因频率进行比较分析。在核心家庭中进行等位基因的传递不平衡检验。家系分析由FBAT 2.0.2软件完成。结果:病例组及正常对照组MTHFR基因rs1801131位点基因型频率分布均符合Hardy-Weinberg平衡。病例-对照研究发现rs1801131位点基因型多态性和等位基因多态性与NSCL/P的发病风险无显著相关关系(P>0.05),核心家庭等位基因A或C均不存在传递不平衡(P>0.05),家系分析显示该人群NSCL/P的发病与rs1801131位点等位基因的分布频率无显著相关关系(P>0.05)。结论:MTHFR基因rs1801131位点多态性与潮汕地区汉族人群NSCL/P发病无显著相关。

OBJECTIVE:To investigate associations between MTHFR rs1801131 polymorphisms and susceptibility to non-syndromic cleft lips with or without cleft palates(NSCL/P)in a Han population which was located in the Chaoshan area,China.METHODS:Peripheral blood samples from 357 NSCL/P children,199 fathers,198 mothers and 354 healthy controls were collected.Genomic DNA samples were extracted and polymorphisms of the MTHFR rs1801131 was detected by matrix-assisted laser desorbed ionization time-offlight mass spectrometry(MALDI-TOF-MS).The chi-square test was used to compare the genotypes and allele frequencies between the case and the normal control groups.The transmission disequilibrium test(TDT)was conducted in the cleft case-parents trios.The family-based genetic analyses were completed by FBAT 2.0.2 software.The genotype frequency distributions of rs1801131 in both the case and control groups were in accordance with Hardy-Weinberg equilibrium.RESULTS:The case-control study showed that the genotype and allele distribution frequencies of the rs1801131 locus were not associated with risk of NSCL/P(P>0.05),and there was no evidence of allele A or C transmission disequilibrium at rs1801131 in cleft case-parents trios(P>0.05).Family-based association test(FBAT)analyses provided no evidence of NSCL/P risk with single allele A or C of rs1801131.CONCLUSION:Our study suggested that MTHFR rs1801131 polymorphisms were not associated with risk of NSCL/P in the study population.