脂联素基因多态性与多囊卵巢综合征的家系分析

[Family-based analysis of the adiponectin gene polymorphisms and polycystic ovary syndrome].

作者信息

Zhang Wenjuan, Sun Lixia, Guo Jun, Yu Xinyan, Shi Yuhua

机构信息

Center for Reproductive Medicine, Affiliated Hospital of Taishan Medical University, Taian 271000, China.

250021 Jinan, Center for Reproductive Medicine, Reproductive Hospital Affiliated to Shandong University. Email:

出版信息

Zhonghua Fu Chan Ke Za Zhi. 2014 Oct;49(10):758-62.

PMID:25537248

Abstract

OBJECTIVE

To study the association between three single nucleotide polymorphisms (SNP; rs2241766, rs1501299 and rs12495941) variants of the adiponectin gene (ADIPOQ) and polycystic ovary syndrome (PCOS) in PCOS family trios.

METHODS

A total of 224 unrelated PCOS probands, their biological parents were recruited. Anthropometric variables such as waist circumference (WC), hip circumference (HC), height and weight were measured in all subjects during the first visit to the outpatient department. Body mass index (BMI) and waist- hip ratio (WHR) were calculated. Serum fasting glucose (FBG), fasting insulin (FINS), total cholesterol (TC), triglycerides (TG), low- density lipoprotein and highdensity lipoprotein cholesterol (HDL) levels were measured. PCOS patients were divided into two groups based on BMI: group A (BMI<25 kg/m²) and group B (BMI ≥ 25 kg/m²). Parents of PCOS patients were accordingly categorized into group C, D (fathers) and group E, F (mothers). The transmission disequilibrium test (TDT) was used to analyze the association between three SNP of ADIPOQ and PCOS.

RESULTS

(1) A significant positive association was detected between SNP rs1501299 and PCOS (χ² = 7.093, P = 0.008). However we failed to find significant overtransmission of the other two SNP rs2241766 and rs12495941 from parents to PCOS offsprings (χ² = 1.620, P = 0.203; χ² = 0.713, P = 0.398). (2) Linkage disequilibrium (LD) was analyzed in the subjects, rs1501299 and rs2241766 were in weak LD (r² = 0.063, D' = 0.621). (3) The levels of WC, HC, WHR, testosterone, TG, HDL and FINS were significantly differences between obese and lean PCOS patients (P < 0.05). While in fathers we only found WC, HC, TC levels being statistically different (P < 0.05). Mothers of obese PCOS patients had increased levels of FINS compared with mothers of lean PCOS patients (P < 0.05). The genotype frequencies of the three SNP were not different in obese and lean PCOS patients and their parents (P>0.05).

CONCLUSIONS

TDT confirms that SNP rs1501299 in the ADIPOQ is significantly associated with the risk of PCOS in the Chinese Han population. The three SNP of the ADIPOQ were not associated with the obesity of PCOS.

摘要

目的

研究多囊卵巢综合征（PCOS）家系三联体中脂联素基因（ADIPOQ）的三个单核苷酸多态性（SNP；rs2241766、rs1501299和rs12495941）变异与多囊卵巢综合征（PCOS）之间的关联。

方法

共招募了224名无血缘关系的PCOS先证者及其生物学父母。在所有受试者首次到门诊就诊时测量人体测量学变量，如腰围（WC）、臀围（HC）、身高和体重。计算体重指数（BMI）和腰臀比（WHR）。测量血清空腹血糖（FBG）、空腹胰岛素（FINS）、总胆固醇（TC）、甘油三酯（TG）、低密度脂蛋白和高密度脂蛋白胆固醇（HDL）水平。PCOS患者根据BMI分为两组：A组（BMI<25kg/m²）和B组（BMI≥25kg/m²）。PCOS患者的父母相应地分为C组、D组（父亲）和E组、F组（母亲）。采用传递不平衡检验（TDT）分析ADIPOQ的三个SNP与PCOS之间的关联。

结果

（1）检测到SNP rs1501299与PCOS之间存在显著正相关（χ² = 7.093，P = 0.008）。然而，我们未发现其他两个SNP rs2241766和rs12495941从父母到PCOS后代的显著过度传递（χ² = 1.620，P = 0.203；χ² = 0.713，P = 0.398）。（2）在受试者中分析连锁不平衡（LD），rs1501299和rs2241766处于弱LD（r² = 0.063，D' = 0.621）。（3）肥胖和消瘦的PCOS患者之间WC、HC、WHR、睾酮、TG、HDL和FINS水平存在显著差异（P < 0.05）。而在父亲中，我们仅发现WC、HC、TC水平存在统计学差异（P < 0.05）。肥胖PCOS患者的母亲与消瘦PCOS患者的母亲相比，FINS水平升高（P < 0.05）。肥胖和消瘦的PCOS患者及其父母中三个SNP的基因型频率无差异（P>0.05）。