Wang Xi-peng, Lin Qi-de, Ma Zheng-wen, Hong Yan, Zhao Ai-min, Di Wen, Lu Pei-hua
Department of Obstetrics and Gynecology, Affiliated Renji Hospital, Shanghai Jiaotong University, Shanghai 200001, China.
Zhonghua Fu Chan Ke Za Zhi. 2006 Mar;41(3):155-8.
To investigate whether A/G polymorphism at position 49 in exon 1 of cytotoxic T lymphocyte antigen-4 (CTLA-4) gene confers the susceptibility to unexplained recurrent spontaneous abortion in Chinese population.
One hundred and sixty-eight restrictive Chinese women with unexplained recurrent spontaneous abortion (URSA) and 117 women with normal pregnancy as control were included in this study. Polymerase chain reaction restrictive fragment length polymorphism (PCR-RFLP) was used to detect the polymorphism at position 49 in exon 1 of CTLA-4 gene. The frequency of alleles G/A, genotypes AA/AG/GG and phenotypes A+ (AA + AG)/G+ (GG + AG) of CTLA-4 were compared between URSA patients and controls.
The different distributions of alleles G/A, genotype AA/AG/GG and phenotypes A+/G+ of CTLA-4 were observed between URSA patients and controls. The frequencies of both G allele [68.4% (230/336) vs 59.4% (139/234), P < 0.05] and GG genotype [48.8% (82/168) vs 33.3% (39/117), P < 0.05] were significantly higher in URSA group than that in control group, while the frequencies of AG genotype [39.3% (66/168) vs 52.1% (61/117), P < 0.05] and A+ (AA + AG) phenotype [51.2% (86/168) vs 66.7% (78/117), P < 0.05] were significantly lower in URSA group than that in control group.
The results suggest that A/G polymorphism in exon-1 of CTLA-4 might confer the susceptibility to RSA in Chinese women.
探讨细胞毒性T淋巴细胞抗原4（CTLA-4）基因第1外显子49位A/G多态性是否与中国人群不明原因复发性自然流产易感性相关。
本研究纳入168例诊断为不明原因复发性自然流产（URSA）的中国女性及117例正常妊娠女性作为对照。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术检测CTLA-4基因第1外显子49位的多态性。比较URSA患者组和对照组CTLA-4基因的G/A等位基因频率、AA/AG/GG基因型频率及A+（AA+AG）/G+（GG+AG）表型频率。
URSA患者组与对照组CTLA-4基因的G/A等位基因、AA/AG/GG基因型及A+/G+表型分布存在差异。URSA组G等位基因频率[68.4%（230/336）比59.4%（139/234），P<0.05]和GG基因型频率[48.8%（82/168）比33.3%（39/117），P<0.05]均显著高于对照组，而AG基因型频率[39.3%（66/168）比52.1%（61/117），P<0.05]和A+（AA+AG）表型频率[51.2%（86/168）比66.7%（78/117），P<0.05]均显著低于对照组。
结果提示CTLA-4基因第1外显子A/G多态性可能与中国女性复发性自然流产易感性相关。
