CAJ | 학술논문

目的：探讨环指蛋白8（RNF8）基因SNPs与吸烟、饮酒的交互作用对精子DNA碎片率（DFI）和原发性男性不育的影响。方法采用病例-对照研究设计，运用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术检测332例原发性男性不育（无精子症不育87例，少弱精症不育166例，精液参数正常不育79例）和329例对照人群rs761737和rs2269058位点基因型。运用精子染色质扩散（SCD）实验检测精子DFI。结果RNF8基因rs761737、rs2269058的基因型、等位基因频率在原发性男性不育组和对照组中的分布差异无统计学意义（P＞0．05）；不育组男性精子DFI（46．2±22．3）％高于生育男性（21．4±9．2）％（P＜0．05），少弱精症不育组精子DFI（50．0±22．1）％高于精液参数正常不育组（38．2±20．7）％；少弱精症不育组和精液参数正常不育组中，携带rs761737和rs2269058三种不同基因型的个体精子DFI比较，差异无统计学意义（P＞0．05）；RNF8rs2269058与吸烟存在交互作用（OR＝2．37，95％CI1．06～5．27，P＜0．05）。结论RNF8基因rs761737和rs2269058可能与原发性男性不育及精子DFI无关，但吸烟会加重携带rs2269058AC＋AA基因型的个体患原发性男性不育的风险。精子DFI可作为精液常规分析的重要补充，对揭示原发性男性不育的病因及指导临床治疗具有重要的意义。
목적：탐토배지단백8（RNF8）기인SNPs여흡연、음주적교호작용대정자DNA쇄편솔（DFI）화원발성남성불육적영향。방법채용병례-대조연구설계，운용취합매련반응-한제성편단장도다태성（PCR-RFLP）기술검측332례원발성남성불육（무정자증불육87례，소약정증불육166례，정액삼수정상불육79례）화329례대조인군rs761737화rs2269058위점기인형。운용정자염색질확산（SCD）실험검측정자DFI。결과RNF8기인rs761737、rs2269058적기인형、등위기인빈솔재원발성남성불육조화대조조중적분포차이무통계학의의（P＞0．05）；불육조남성정자DFI（46．2±22．3）％고우생육남성（21．4±9．2）％（P＜0．05），소약정증불육조정자DFI（50．0±22．1）％고우정액삼수정상불육조（38．2±20．7）％；소약정증불육조화정액삼수정상불육조중，휴대rs761737화rs2269058삼충불동기인형적개체정자DFI비교，차이무통계학의의（P＞0．05）；RNF8rs2269058여흡연존재교호작용（OR＝2．37，95％CI1．06～5．27，P＜0．05）。결론RNF8기인rs761737화rs2269058가능여원발성남성불육급정자DFI무관，단흡연회가중휴대rs2269058AC＋AA기인형적개체환원발성남성불육적풍험。정자DFI가작위정액상규분석적중요보충，대게시원발성남성불육적병인급지도림상치료구유중요적의의。
Objective To evaluate the effect of two polymorphisms(rs761737 and rs2269058) of RNF8 and the interactions with cigarette smoking and alcohol consumption on sperm DNA fragment index (DFI)and primary male infertility .Methods Based on case-control design ,polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technology was used to de-tect the genotype of rs761737 and rs2269058 in RNF8 between 332 primary male infertile patients (composed by 87 patients of azoospermia ,166 patients of oligoasthenozoospermia and 79 patients of normozoospermia ) and 329 controls ,and Sperm Chromatin Dispersion(SCD) assay was used to assess sperm DNA fragment index (DFI) .Results Genotype and allele frequencies distribution of rs761737 and rs2269058 between cases and controls had no statistically significant difference (P>0 .05) .Sperm DFI in infertile group (46 .2 ± 22 .3)% was significantly higher than that of control group (21 .4 ± 9 .2)% (P<0 .05) ,stratified analysis suggested that Sperm DFI in oligoasthenozoospermia group (50 .0 ± 22 .1)% was also significantly higher than that of normozoospermia group (38 .2 ± 20 .7)% .The statistic differences of Sperm DFI in individuals who carried different genotypes of rs 761737 and rs2269058 in oligoasthenozoospermia group and normozoospermia group had no statistically significant difference (P>0 .05) .There was an inter-action between RNF8 rs2269058 and Cigarettes smoking(P<0 .05 ,OR=2 .37 ,95% CI 1 .06-5 .27) .Conclusion Although RNF8 rs761737 and rs2269058 have no effects on primary male infertility and sperm DFI ,cigarettes smoking increase the risk of primary male infertility in individuals who carry RNF8 rs2269058 AC+AA genotype .Sperm DFI is an important test to assess sperm quali-ty ,it is vital to reveal the etiology of primary male infertility and provide therapy guidance to clinicians .