CLOCK基因多态性与原发性男性不育相关性  

Correlation between CLOCK gene polymorphism and primary male infertility

作　　者：王旭[1] 路珊珊[1] 童建[1] 张洁[1] 

机构地区：[1]苏州大学公共卫生学院卫生毒理学教研室,江苏苏州215123

出　　处：《中国公共卫生》2017年第1期113-117,共5页Chinese Journal of Public Health

基　　金：国家自然科学基金(81473008);苏州市科技项目(SYS201320)

摘　　要：目的探讨生物钟基因(CLOCK)多态性与原发性男性不育之间的关系。方法以2005—2010年就诊于江苏省南京医科大学附属医院男性不育门诊的478例患者为病例组,同时选择就诊于其他门诊的有正常生育史的194名男性为对照组。取5 m L外周血检测血清睾酮(T)和促卵泡激素(FSH)水平,PCR检测CLOCK的rs1801260、rs3817444和rs3749474位点。结果在rs3749474位点携带TT基因型和TC+CC基因型的受试者中病例组血清FSH浓度明显高于对照组(P=0.0266),携带CC基因型的受试者中病例组血清T浓度明显高于对照组(P=0.0466);在rs1801260位点携带AA基因型的受试者中病例组血清FSH和T浓度均明显高于对照组(P分别为0.0016、0.0451);在rs3817444位点携带CC基因型和CA+AA基因型的受试者中病例组血清FSH浓度均明显高于对照组(P分别为0.0016、0.0430)。结论 CLOCK基因多态性与原发性男性不育存在关联。Objective To explore the correlation between Circadian Locomotor Output Cycles Kaput （CLOCK） gene polymorphisms and primary male infertility. Methods Totally 478 male infertility patients visiting Infertility Clinic of Affiliated Hospital of Nanjing Medical University from 2005 through 2010 were recruited as the cases and 194 attendees with normal reproductive history visiting other clinics of the same hospital during the same period were recruited as the controls. Five milliliters peripheral blood were collected from each participant with informed consent. An aliquot of each blood sample was used to separate the serum for the measurement of testosterone （T） and follicular stimulating hormone （FSH） using the standard radioimmunoassay. The rest of the blood sample was used to extract the DNA for the assay of three tagging single-nucleotide polymorphisms of CLOCK gene （ rs1801260, rs3817444, and rs3749474 ） using real-time fluorescence quantitative PCR. Results The serum FSH concentration was significantly higher in the cases carrying ＂IT and TC ＋ CC genotype of rs3749474 locus than in the controls （ P 〈 0, 05 ） ; the serum T concentration was significantly higher in the cases carrying CC genotype of rs3749474 locus than in the controls （ P 〈 0. 05 ） ; the serum levels of FSH and T were significantly higher in the cases carrying AA genotype of rs1801260 locus than in the controls （both P 〈 0. 05） ; the serum FSH concentration was significantly higher in the cases carrying CC and CA ＋ AA genotype of rs3817444 locus than in the controls （ P 〈 0. 05 ）. Conclusion The polymorphism of CLOCK gene is associated with the risk of primary male infertility and its mechanism needs further study.

关 键 词：CLOCK 原发性男性不育 基因突变 

分 类 号：R169[医药卫生—公共卫生与预防医学]