CAJ | 학술논문

目的探讨MTHFR基因C677T和A1298C多态性与多囊卵巢综合征(polycystic ovary syndrome,PCOS)的相关性以及PCOS的发病机制.方法应用病例-对照研究,收集115例PCOS患者和58名正常生育并排除PCOS妇女的血样为对照,分别提取DNA、血浆和血清.应用聚合酶链反应-限制性片段长度多态法检测MTHFR基因C677T和A1298C的多态性,同时检测红细胞的叶酸、血清同型半胱氨酸和维生素B12水平.应用Epidata建立数据库,用SAS软件进行统计分析.结果 PCOS组和对照组在MTHFR基因677等位基因频率C和T的分布差异有统计学意义(P＜0.01),等位基因T使PCOS发病风险增加2.06倍.MTHFR基因C677T各基因型分布差异有统计学意义(P＜0.01),纯合突变基因型(TT)、杂合突变基因型(CT)与野生基因型(CC)相比,患PCOS的风险分别提高了4.39倍(95％CI:1.77～10.89)和3.91倍(95％CI:1.70～8.97).在MTHFR基因1298位置等位基因频率A和C的分布差异无统计学意义(P＞0.05).MTHFR基因A1298C各基因型分布差异无统计学意义(P＞0.05).在PCOS组中,MTHFR C677T的纯合突变基因型(TT)和野生基因型(CC)相比,发生胰岛素抵抗的风险提高了6.40倍(95％CI:1.71～23.95),差异有统计学意义(P＜0.01).PCOS组与对照组之间红细胞叶酸水平的差异有统计学意义(P＜0.01),而血清维生素B12和同型半胱氨酸水平的差异无统计学意义.结论 MTHFR基因C677T多态性与PCOS的发病相关.CT、TT基因型可增加PCOS的发生风险,其中TT基因型还将增加PCOS患者发生胰岛素抵抗的风险.MTHFR基因1298位点等位基因突变与PCOS的发生无关.PCOS组红细胞叶酸偏低,应适当补充.
목적 탐토MTHFR기인C677T화A1298C다태성여다낭란소종합정(polycystic ovary syndrome,PCOS)적상관성이급PCOS적발병궤제.방법 응용병례-대조연구,수집115례PCOS환자화58명정상생육병배제PCOS부녀적혈양위대조,분별제취DNA、혈장화혈청.응용취합매련반응-한제성편단장도다태법검측MTHFR기인C677T화A1298C적다태성,동시검측홍세포적협산、혈청동형반광안산화유생소B12수평.응용Epidata건립수거고,용SAS연건진행통계분석.결과 PCOS조화대조조재MTHFR기인677등위기인빈솔C화T적분포차이유통계학의의(P＜0.01),등위기인T사PCOS발병풍험증가2.06배.MTHFR기인C677T각기인형분포차이유통계학의의(P＜0.01),순합돌변기인형(TT)、잡합돌변기인형(CT)여야생기인형(CC)상비,환PCOS적풍험분별제고료4.39배(95％CI:1.77～10.89)화3.91배(95％CI:1.70～8.97).재MTHFR기인1298위치등위기인빈솔A화C적분포차이무통계학의의(P＞0.05).MTHFR기인A1298C각기인형분포차이무통계학의의(P＞0.05).재PCOS조중,MTHFR C677T적순합돌변기인형(TT)화야생기인형(CC)상비,발생이도소저항적풍험제고료6.40배(95％CI:1.71～23.95),차이유통계학의의(P＜0.01).PCOS조여대조조지간홍세포협산수평적차이유통계학의의(P＜0.01),이혈청유생소B12화동형반광안산수평적차이무통계학의의.결론 MTHFR기인C677T다태성여PCOS적발병상관.CT、TT기인형가증가PCOS적발생풍험,기중TT기인형환장증가PCOS환자발생이도소저항적풍험.MTHFR기인1298위점등위기인돌변여PCOS적발생무관.PCOS조홍세포협산편저,응괄당보충.
Objective To assess the association of C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene with the susceptibility to polycystic ovary syndrome (PCOS).Methods Blood samples of 115 PCOS patients and 58 fertile women (for whom PCOS has been excluded) were collected for DNA extraction.Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used for determining the C677T and A1298C polymorphisms.A database has been set up with Epidata and a significance test was performed with a statistical analysis system.Results A significant difference has been found in the allele frequencies of MTHFR gene 677 C and T polymorphisms between the two groups (P＜0.01),for which T allele has increased the risk for PCOS by 2.06 times.Heterozygous and homozygous genotypes at position 677 (CT and TT) were more common among PCOS cases than controls,with an OR of 3.91 (95％ CI:1.70-8.97) and 4.39 (95％ CI:1.77-10.89),respectively.There was no statistical difference in genotypic distribution of MTHFR gene A1298C polymorphism (P＞0.05).In the PCOS group,there was a significant difference with an OR of 6.40 (95％ CI:1.71-23.95) for an increased risk of insulin resistance in homozygous C677T mutations (TT) compared with the wild genotype (CC,P＜0.01).The PCOS group and the control group also differed significantly in their red blood cell folate levels (P＜0.01),but not in serum vitamin B12 and homocysteine levels (P＞ 0.05).Conclusion MTHFR gene C677T polymorphism is associated with PCOS,for which CT and TT genotypes can increase the risk of PCOS.The TT genotype can also increase the risk of insulin resistance in PCOS patients.The A1298C polymorphism of the MTHFR gene is not associated with the occurrence of PCOS.The folate level in red blood cells of PCOS patients is lower,for whom folate should be supplemented.