Relationship between polymorphisms of CYP1A1,CYP1B1 genes and susceptibility to recurrent abortion
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摘要: 目的 探讨CYP1A1、CYP1B1基因多态性与复发性流产(RPL)遗传易感性关系,为预防和治疗该病提供新靶点。方法 本研究采用等位基因特异性PCR(As-PCR)和聚合酶链反应-限制性片断长度多态性(PCR-RFLP)方法,针对CYP1A1基因MspΙ酶切位点和CYP1B1 L432V多态位点,检测81例患有原因不明RPL病例组和98名有生育史健康女性对照组之间差异。结果 RPL组和对照组CYP1A1 MspΙ位点3种基因型m1/m1、m1/m2、m2/m2分布频率差异无统计学意义(χ2=0.335,P>0.05);CYP1B1 L432V多态位点3种基因型C/C、C/G、G/G在病例组和对照组分布差异有统计学意义(χ2=7.467,P<0.05);2组间C、G等位基因分布差异有统计学意义(χ2=9.129,P=0.003);G/G、C/G基因型与C/C基因型比较,RPL危险度分别提高2.620、1.954倍;等位基因G使RPL危险性增加2.038倍。结论 CYP1B1 L432V突变基因型增加RPL发病风险,尚不能认为CYP1A1基因MspI位点多态性与RPL易感性有关。Abstract: Objective To investigate the relationship between polymorphisms of CYP1A1 and CYP 1B1genes and the susceptibility to recurrent pregnancy loss(RPL).Methods The MspI polymorphism of CYP1A1 and the polymorphism in exon 3 codon 432(C-G of CYP1B1)were detected with the methods of polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)and allele specific-PCR(AS-PCR)in a case-control study including 81 cases of RPL and 98 healthy controls.Results There was no significant correlation between MspI polymorphism and RPL susceptibility(χ2=0.335,P=0.846).There were significant differences in the genotype distributions or allele frequencies of CYP1B1 L432V polymorphism between the two groups(χ2=7.467,P=0.024;χ2=9.129,P=0.003). Compared with wild-type C/C,the susceptibility of recurrent abortion with the genotypes of homozygotic mutation G/G and heterozygotic mutation C/G were increased by 2.620 and 1.954 times,respectively.Compared with allele C,the risk of recurrent abortion with allele G was increased by 2.038.Conclusion The gene polymorphism of CYP1B1 in exon 3 condon 432(C-G)might be a genetic risk factor of RPL and the allelic polymorphism of CYP1B1 L432V increases the risk of recurrent abortion.The results do not show that polymorphism of MspI is associated with the susceptibility of RPL.
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Keywords:
- RPL /
- CYP polymorphism /
- AS-PCR /
- PCR-RFLP /
- risk factor
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