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目的探讨5,10-亚甲基四氢叶酸还原酶(MTHFR)基因多态性与先天性心脏病(CHD)的关系,为CHD的防治提供参考依据。方法采用以医院为基础的病例对照研究方法抽取2012年12月—2013年11月山东大学齐鲁儿童医院就诊的150例患有单纯性CHD的患儿及同期在该医院儿童保健科进行查体的150名健康儿童分别作为病例组和对照组,检测2组儿童MTHFR基因C677T、A1298C、G1793A的基因型及其分布。结果 MTHFR C677T位点T等位基因儿童患CHD的风险为C等位基因的1.813倍(χ2=12.990,P=0.000),CT、TT、CT+TT基因儿童患CHD的风险分别为CC基因的2.249、3.121、2.489倍(P<0.01);M THFR A1298C位点C等位基因儿童患CHD的风险为A等位基因的2.017倍(χ2=5.785,P=0.016),AC基因儿童患CHD的风险为AA基因的2.177倍(χ2=6.434,P=0.011);M THFR G1793A位点G与A等位基因和GG与GA基因儿童患CHD的风险差异均无统计学意义(均P>0.05);MTHFR C677T与A1298C位点CC/AC、CT/AA、CT/AC、TT/AA、TT/AC组合基因儿童患CHD的风险分别为CC/AA组合基因的3.039、2.718、3.545、2.861、7.091倍(均P<0.05);MTHFR C677T与G1793A位点TT/GG组合基因儿童患CHD的风险为CC/GG组合基因的2.551倍(χ2=7.133,P<0.05);M THFR A1298C与G1793A位点AC/GG组合基因儿童患CHD的风险为AA/GG组合基因的2.505倍(χ2=6.448,P=0.011)。结论M THFR C677T、A1298C突变是CHD发生的危险因素,M THFR C677T与A1298C、M THFR C677T与G1793A、M THFR A1298C与G1793A组合基因对CHD的发生存在联合作用
Objective To investigate the relationship between polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR) gene and congenital heart disease (CHD) and provide a reference for the prevention and treatment of CHD. Methods A hospital-based case-control study was conducted in 150 children with simple CHD who were treated at Qilu Children’s Hospital of Shandong University from December 2012 to November 2013 and children with CHD at the same period 150 healthy children were used as case group and control group respectively to detect genotype and distribution of MTHFR gene C677T, A1298C and G1793A in two groups of children. Results The risk of CHD in children with T allele at MTHFR C677T locus was 1.813 times that of C allele (χ2 = 12.990, P = 0.000). The risk of CHD in children with CT, TT and CT + TT was CC 2.249,3.121,2.489 times (P <0.01). The risk of CHD in children with C allele at MTHF A1298C locus was 2.017 times that of allele A (χ2 = 5.785, P = 0.016) There was no significant difference in the risk of CHD between GTH allele of G1793A and children with GG and GA (χ2 = 6.434, P = 0.011) The risk of CHD in children with MTHFR C677T and A1298C CC / AC, CT / AA, CT / AC, TT / AA and TT / AC was 3.039,2.718,3.545,2.861,7.091 (P <0.05). The risk of CHD in children with MTHFR C677T and G1793A TT / GG combination was 2.551-fold more than that of CC / GG combination (χ2 = 7.133, P <0.05). M THFR A1298C and G1793A The risk of CHD in children with AC / GG combination was 2.505 times higher than that in AA / GG combination (χ2 = 6.448, P = 0.011). Conclusions M THFR C677T and A1298C mutations are risk factors for CHD. M THFR C677T and A1298C, M THFR C677T and G1793A, M THFR A1298C and G1793A have a combined effect on the occurrence of CHD