Family based analysis of adiponectin gene polymorphisms in Chinese Han polycystic ovary syndrome

Transmission disequilibrium test analysis confirms that single-nucleotide polymorphism rs1501299 in ADIPOQ is significantly associated with risk of polycystic ovary syndrome in the Chinese population.


Wenjuan Zhang, M.Sc., Daimin Wei, M.D., Xianchang Sun, M.Sc., Jing Li, M.Sc., Xinyan Yu, M.B., Yuhua Shi, M.D., Ph.D., Zi-jiang Chen, M.D., Ph.D.

Volume 101, Issue 5, Pages 1419–1423.e3



To study the association between two single-nucleotide polymorphisms (SNPs) variants (rs2241766 and rs1501299) of the adiponectin gene (ADIPOQ) and polycystic ovary syndrome (PCOS) in PCOS family trios.


Family-based study.


University hospital.


A total of 224 unrelated PCOS probands, their biologic parents, and 204 control subjects.


Anthropometric, hormonal, and metabolic assessment; genotype detection.

Main Outcome Measure(s):

Basic endocrine, serum fasting glucose (FG), fasting insulin (FINS), total cholesterol (TC), triglycerides (TG), and low-density lipoprotein (LDL) and high-density lipoprotein (HDL) cholesterol levels were measured. The transmission disequilibrium test (TDT) was used to analyze the association between two SNPs of ADIPOQ and PCOS.


A significant positive association was detected between SNP rs1501299 and PCOS. Compared with AA genotype, AC and CC genotypes had increased risk for PCOS, and the difference remained significant after adjustment for age, body mass index, and testosterone (T). The levels of T, TG, HDL cholesterol, and FINS were significantly higher in obese PCOS patients. However, we failed to find significant overtransmission of the other SNP, rs2241766, from parents to PCOS offspring. The genotype frequencies of rs2241766 and rs1501299 were not different in obese and lean PCOS patients and their parents.


TDT confirms that SNP rs1501299 in the ADIPOQ is significantly associated with the risk of PCOS in the Chinese Han population. The present data may provide a basis for further studies of the role of the ADIPOQ in the etiology of PCOS.

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