CAJ | 학술논문

目的探讨信号转导与转录激活因子4(STAT4)基因多态性与原因不明复发性流产(URSA)的易感相关性.方法分别采用PCR-限制性片段长度多态性(PCR-RFLP)技术检测并比较246例URSA患者(URSA组)和183例健康妇女(对照组)STAT4基因3个位点(rs7574865 G/T、rs10181656 C/G及rs16833431C/T)的基因型分布.结果 (1)rs7574865及rs10181656位点:存URSA组和对照组中,rs7574865位点基因型频率分别为G/G基因型36.2％(89/246)、46.4％(85/183),G/T基因型47.2％(116/246)、45.4％(83/183),T/T基因型16.7％ (41/246)、8.2％(15/183)；rs10181656位点基因型频率分别为C/C基因型36.6％(90/246)、46.4％(85/183),C/G基因型48.0％(118/246)、44.8％ (82/183),G/G基因型15.4％(38/246)、8.7％(16/183)；两个位点基因型频率在两组间分别比较,差异均自统计学意义(P＜0.05).rs7574865 T与rs10181656 G等位基因明显增加URSA的发病风险(OR=1.51、1.44,P均＜0.05)；(2)rs16833431位点:3种基因型和C、T等位基因频率在URSA组和对照组间比较,差异均无统计学意义(P =0.43、0.48)；(3)单体型分析:G-T单体型使URSA的发病风险明显增加(OR=1.49,P＜0.01),而C-G单体型则减少URSA的发病风险(OR =0.68,P＜0.01).结论 STAT4基因多态性可能通过影响其表达或功能来增加URSA易感性.
목적 탐토신호전도여전록격활인자4(STAT4)기인다태성여원인불명복발성유산(URSA)적역감상관성.방법 분별채용PCR-한제성편단장도다태성(PCR-RFLP)기술검측병비교246례URSA환자(URSA조)화183례건강부녀(대조조)STAT4기인3개위점(rs7574865 G/T、rs10181656 C/G급rs16833431C/T)적기인형분포.결과 (1)rs7574865급rs10181656위점:존URSA조화대조조중,rs7574865위점기인형빈솔분별위G/G기인형36.2％(89/246)、46.4％(85/183),G/T기인형47.2％(116/246)、45.4％(83/183),T/T기인형16.7％ (41/246)、8.2％(15/183)；rs10181656위점기인형빈솔분별위C/C기인형36.6％(90/246)、46.4％(85/183),C/G기인형48.0％(118/246)、44.8％ (82/183),G/G기인형15.4％(38/246)、8.7％(16/183)；량개위점기인형빈솔재량조간분별비교,차이균자통계학의의(P＜0.05).rs7574865 T여rs10181656 G등위기인명현증가URSA적발병풍험(OR=1.51、1.44,P균＜0.05)；(2)rs16833431위점:3충기인형화C、T등위기인빈솔재URSA조화대조조간비교,차이균무통계학의의(P =0.43、0.48)；(3)단체형분석:G-T단체형사URSA적발병풍험명현증가(OR=1.49,P＜0.01),이C-G단체형칙감소URSA적발병풍험(OR =0.68,P＜0.01).결론 STAT4기인다태성가능통과영향기표체혹공능래증가URSA역감성.
Objective To investigate the association between the polymorphisms of signal transdncer and activator of transcription 4 (STAT4) gene and the susceptibility to unexplained recurrent spontaneous abortion (URSA).Methods PCR-restrietiou fragment length polymorphism (PCR-RFLP) was used to detect genotype 3]oca (rs7574865 G/T,rs10181656 C/G and rs16833431 C/T) polymorphism of STAT4 in 246 URSA cases (URSA group) and 183 normal controls (control group).Results (1) The frequencies of rs7574865 were genotype G/G of 36.2％ (89/246) in URSA group and 46.4％ (85/183) in control group,genotype G/T of 47.2％ (116/246) in URSA group and 45.4％ (83/183) in control group,and genotype T/T of 16.7 ％ (41/246) in URSA group and 8.2％ (15/183)in control group,which reached statistical difference (P ＜ 0.05).The frequencies of rs10181656 were genotype CC of 36.6％ (90/246) in URSA group and 46.4％ (85/183) in control group,genotype C/G of 48.0％ (118/246) in URSA group and 44.8％ (82/183) in control group,and genotype G/G of 15.4％ (38/246) in URSA group and 8.7％(16/183) in control group,which reached statistical difference (P ＜ 0.05).The carriers of rs7574865 T allele and rs10181656 G allele increased the risk of URSA (OR =1.51,1.44,all P ＜ 0.05).(2) There was no different distribution in 3 genotypes (C/C,C/T,T/T) and 2 alleles (C and T) of rs16833431 C/T between URSA patients and normal controls (P =0.43,0.48).(3) Timated haplotype frequency distribution of rs7574865 G/T and rs10181656 C/G showed haplotype G-T conferring the snsceptibility to URSA (OR =1.49,P ＜ 0.01),but haplotype C-G could provide protection on URSA (OR =0.68,P ＜ 0.01).Conclusion Polymorphisms of STAT4 gene migbt confer the susceptibility to URSA by altering STAT4 function and (or) its expression.