脂联素基因多态性与多囊卵巢综合征发病关系的病例对照研究  

Case-control based study between polymorphisms in the adiponectin gene and polycystic ovary syndrome

作　　者：张文娟[1] 吴兴国[3] 丁明德[2] 于新艳[4] 刘光海[2] 石玉华[5] 

机构地区：[1]泰山医学院附属医院生殖医学中心,泰安271000 [2]泰山医学院附属医院妇科,泰安271000 [3]山东省泰安市中心医院妇科 [4]山东省泰安市中心医院生殖遗传科 [5]山东大学附属生殖医院生殖中心

出　　处：《中华妇产科杂志》2015年第11期825-829,共5页Chinese Journal of Obstetrics and Gynecology

基　　金：国家自然科学基金（81471428）;山东省泰安市科技发展计划（20123030）

摘　　要：目的通过对多囊卵巢综合征（PCOS）患者脂联素基因（ADIPOQ）4个多态性位点的研究，探讨ADIPOQ多态性在PCOS发病中的作用。方法于2007年7月至2013年4月在泰山医学院附属医院及山东大学附属生殖医院选取207例PCOS患者（PCOS组），以及年龄、民族、体质指数（BMI）均与PCOS患者相匹配的192例不孕症患者作为对照组，采集外周血并提取基因组DNA，采用PCR扩增技术和直接测序方法对ADIPOQ的4个单核苷酸多态位点rs17300539、rs12495941、rs2241766和rs1501299进行基因型及等位基因分析。结果（1）PCOS组患者rs17300539多态性位点的AA基因型频率（57．5％，119／207）明显高于对照组（48．4％，93／192），rs1501299位点的AA基因型频率（4．8％，10／207）低于对照组（11．5％，22／192），两组分别比较，差异均有统计学意义（P〈0.05）。而rs12495941及rs2241766位点的基因型频率分布在两组间比较，差异均元统计学意义（P〉0．05）。（2）PCOS组患者rs17300539位点的A等位基因频率（75．8％，314／414）、rs1501299位点C等位基因频率（76．3％，316／414）均高于对照组[分别为67．7％（260／384）、69．0％（265／384）]，两组分别比较，差异：啕有统计学意义（P〈0．05）。而rs12495941及rs2241766位点的等位基因频率分布在两组间比较，差异均无统计学意义（P〉0.05）。（3）rs17300539位点的AA基因型与GG基因型相比发生PCOS的风险明显：升高（OR=2．670，P=0．009），rs1501299位点的CC基因型与AA基因型相比发生PCOS的风险也明显升高（OR=2．756，P=0．012），且校正BMI、年龄和睾酮等影响因素后，这种差异仍有统计学意义（P〈0．05）。结论ADIPOQ的rs17300539和rs1501299位点的基因型频率分布及等位基因频率分布在PCOS组与对照组间有差异，rs17300539和rs1501299位点可能是PCOS的易感基因位点。Objective To investigate the frequeney of four single nucleotide polymorphism （SNP） sites （rs17300539, rs12495941, rs2241766 and rs1501299） of adiponectin gene （ADIPOQ） and to elucidate its role in the pathogenesis of polycystic ovary syndrome （PCOS）. Methods A total of 207 women with PCOS and 192 controls were recruited. Four ml whole-blood samples were collected in tubes containing ethylene diamine tetraacetie acid （EDTA） by peripheral venous puncture. Genomic DNA was extracted using a QIAamp DNA mini kit. Four SNP sites （rs17300539, rs12495941, rs2241766 and rs1501299） of ADIPOQ were amplified by PCR and then directly sequenced to screen variants. Results （1） The genotype frequencies of AA of rs17300539 in PCOS was significantly higher than controls [57.5% （119/207） versus 48.4% （93/192）, P〈0.05]. The genotype frequencies of AA of rs1501299 in PCOS was significantly lower than controls [4.8% （10/207） versus 11.5% （22/192）, P〈0.05]. While no significant differences were found in rs2241766 and rs12495941 （P〉0.05）. （2） The allele A of rs17300539 [75.8% （314/414）] and allele C frequencies of rs1501299 [76.3% （316/414）] in PCOS were significantly higher than controls [67.7% （260/ 384）, 69.0% （265/384）, respective/y; all 1~〈0.05]. While no significant differences were found in rs2241766 and rs12495941 （P〉0.05）. （3） Further analysis we found rs17300539 AA genotypes had an increased risk for PCOS compared with GG genotype （0R=2.670, P=0.009）, rs1501299 CC genotype had an increased risk for PCOS compared with AA genotypes （0R=2.756, P=0.012）; and the difference remained significantly after adjustment for age, testosterone and body mass index （P〈0.05）. Conclusions No significant differences were observed in genotype and allele frequencies between PCOS and controls for rs2241766 and rs12495941. However, we observed an association between rs17300539, rs1501299 and PCOS. rs17300539 and rs 1501299 of ADIPOQ perhaps are the su

关 键 词：多囊卵巢综合征 脂联素 多态性 单核苷酸 基因型 基因频率 病例对照研究 

分 类 号：R711.75[医药卫生—妇产科学]