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

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FBAT2.0.2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。

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

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.