摘要
目的研究多囊卵巢综合征(PCOS)发病机制与脂联素基因(ADIPOQ)4个多态性位点之间的关系。方法随机选择多囊卵巢综合征患者65例为研究组,不孕不育患者60例作为对照组,采集所有研究对象的肘静脉血并提取基因组DNA,聚合酶链式反应(PCR)扩增和Sanger测序的方法检测和分析ADIPOQ的rs17300539、rs1501299、rs2241766、rs12495941四个单核苷酸多肽位点的基因型和等位基因。结果研究组和对照组rs17300539位点基因型之间的差异有统计学意义(χ~2=6.85,P=0.03),研究组rs17300539位点A等位基因频率明显高于对照组(χ~2=4.38,P=0.04),rs17300539位点AA基因型患者PCOS的风险显著高于GG基因型(OR=3.15,P=0.00)。研究组和对照组rs1501299位点基因型之间的差异有统计学意义(χ~2=7.75;P=0.02),研究组rs1501299位点C等位基因频率明显高于对照组,A等位基因频率明显低于对照组,差异有统计学意义(χ~2=4.38,P=0.04),rs1501299位点CC基因型PCOS的风险显著高于AA基因型(OR=2.75,P=0.01)。研究组和对照组rs2241766位点和rs12495941位点的基因型和等位基因频率分布之间的差异均无统计学意义(P>0.05)。结论脂联素基因rs17300539位点与rs1501299位点的基因型频率分布和等位基因型频率分布在多囊卵巢综合征患者和不孕不育患者之间存在差异,rs17300539位点与rs1501299位点可能是多囊卵巢综合征的易感基因位点。
Objective To study the relationship between the pathogenesis of polycystic ovary syndrome（PCOS） and the four polymorphic loci of adiponectin gene （ADIPOQ）. Methods Sixty-five patients with PCOS admitted in Fenghua District Maternal and Child Health Hospital from March 2012 to October 2016 were randomly selected, and randomly selected 60 patients with infertility in our hospital as a control group. The genomic DNA of all the subjects were collected, the gcnotypes and alleles of four single nucleotide polymorphisms （SNPs） of rs71300539, rs1501299, rs2241766 and rs12495941 were detected and analyzed by polymerase chain reaction （PCR） amplifica- tion and Sanger sequencing. Results The genotype of rs17300539 locus was significantly different between the study group and the control group （x^2=6.85; P=0.03）, and the allele A frequency of rs17300539 locus was signifi- cantly higher in the study group than in the control group（x^2=4.38; P=0.04）. The risk of PCOS in rs17300539 locus was significantly higher than that in GG genotype （OR=3.15, P=0.00）. There was a significant difference be- tween the study group and the control group at rs1501299 genotype（x^2=7.75; P=0.02）, the frequency of C allele in the rs1501299 locus was significantly higher than that in the control group, and the frequency of allele A was sig- nificantly lower than that of the control group （x^2=4.38; P=0.04）. The risk of PCOS was significantly higher in pa- tients with rs1501299 CC genotype than AA genotype （OR=2.75, P=0.01）. There was no significant difference in genotype and allele fi＇equency distribution between rs2241766 locus and rs12495941 locus between the study group and control group （P〉0.05）. Conclusion The genotype frequency distribution of rs17300539 and rs1501299 locus of adiponectin gene is different from that of patients with PCOS and infertility, therefor rs17300539 locus and rs1501299 locus may be susceptible gene loci of polycystic ovary syndrome.
作者
林峰芳
孙霞
张玲云
LIN Fengfang;SUN Xia;ZHANG Lingyun(Department of Obstetrics and Gynecology, Community Hospital of Maternal and Child Health of Fenghua District, Ningbo（315500）, China;Department of Obstetrics and Gynecology, the First People ＇s Hospital of Hangzhou, Hangzhou（310006）, China)
出处
《浙江中西医结合杂志》
2018年第2期101-104,108,共5页
Zhejiang Journal of Integrated Traditional Chinese and Western Medicine
关键词
多囊卵巢综合征
脂联素
基因多态性
单核苷酸多态性
Polycystic ovary syndrome
Adiponectin
Gene polymorphism
Single nucleotide polymorphism
