Association of MTHFR 677C-T/1298A-C polymorphism with microtia
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摘要: 目的探讨叶酸代谢的关键酶亚甲基四氢叶酸还原酶(MTHFR)基因677C-T和1298A-C单核苷酸多态与中国汉族人群先天性小耳畸形发病风险的关系。方法收集2012—2014年南京地区先天性小耳畸形患者183例, 对照组188例来自同期健康体检者。采用PCR-内切酶消化和基因测序方法进行基因分型, 采用χ2检验进行MTHFR 677C-T单核苷酸多态性与先天性小耳畸形关联分析。结果MTHFR 677C-T突变基因型频率在病例和对照中的分布差异有统计学意义(P<0.05), 进一步进行不同性别分层分析, MTHFR 677C-T突变基因型主要增加男性先天性小耳畸形的发病风险(P<0.05), MTHFR基因1298A-C多态性在病例和对照组中的分布差异无统计学意义(P>0.05), 两个多态性位点存在连锁不平衡。结论MTHFR 677C-T单核苷酸多态可能与男性先天性小耳畸形的遗传易感性有关。Abstract: ObjectiveTo explore the relationship between methylenetetrahydrofolate reductase(MTHFR) genetic polymorphism of 677C-T and 1298A-C and congenital microtia in Chinese Han population.MethodsTotally 183 microtia patients and 188 group-matched healthy examinees were recruited from 3 hospitals in Nanjing city from 2012 through 2014.The genotyping was conducted with polymerase chain reaction and restriction fragment length polymorphism(PCR-RFLP)and DNA sequencing.Frequencies and allele distribution of MTHFR polymorphism of 677C-T and 1298A-C in the cases and controls were compared with Chi-square test.ResultsThe differences in the in MTHFR 677C-T polymorphism genotype frequencies between the cases and controls were statistically significant(all P<0.05);further gender-stratified analyses showed that MTHFR 677C-T polymorphism genotype mutation mainly increases the risk of microtia in the males.However,no significant association of MTHFR 1298A-C with microtia was observed(P>0.05).Linkage disequilibrium was found between 677C-T and 1298A-C.ConclusionThe mutation of 677C-T in MTHFR gene may be a risk factor of microtia in males.
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Key words:
- microtia /
- MTHFR /
- gene polymorphism /
- linkage disequilibrium
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