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Gene. 2013 Sep 15;527(1):71-4. doi: 10.1016/j.gene.2013.05.074. Epub 2013 Jun 13.

Relationship between leptin receptor and polycystic ovary syndrome.

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Department of Biomedical Science, CHA University, Bundang CHA Hospital, 502 Yatap-Dong, Bundang-Gu, Seongnam-Si, Gyeonggi-Do 463-840, Republic of Korea.


Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders, which is involved in the multi-system disease, and its etiology is still not clearly understood. It is currently considered that not only the genetic factors but also the environment factors play a crucial role in the pathogenesis of PCOS. Obesity plays an important role through the insulin, leptin and endocannabinoid system in the pathological process of PCOS, leading to more severe clinical manifestations. The aim of our present study is to investigate whether there is association between single nucleotide polymorphisms (SNPs) of Gln223Arg and Pro1019Pro in the leptin receptor gene (LEPR) and PCOS in a Korean population. Interestingly, a significant association was found between the Pro1019Pro in LEPR gene and PCOS, and a highly significant association was found between the Gln223Arg in LEPR gene and PCOS (P=0.033, OR=1.523, 95% confidence interval and P<0.0001, OR=0.446, 95% confidence interval). Moreover, genotype combination and haplotype analyses indicate that Gln223Arg and Pro1019Pro polymorphisms of LEPR are significantly associated with the risk of PCOS.


ADPOQ; ADRB2; DHEA-S; E2; FSH; HWE; Hardy–Weinberg equilibrium; IR; LEPR; LH; Leptin; NSCLC; PAI-1; PCOS; PCR-RFLP analysis; PRL; Polycystic ovary; SNP; Single nucleotide polymorphism (SNP); TNF-α; TSH; adiponectin; dehydroepiandrosterone sulfate; estradiol; follicle-stimulating hormone; insulin resistance; leptin receptor; luteinizing hormone; non-small cell lung cancer; plasminogen activator inhibitor-1; polycystic ovary syndrome; polymerase chain reaction-restriction fragment length polymorphism analysis; prolactin; single nucleotide polymorphism; thyroid-stimulating hormone; tumor necrosis factor α; ß-2 adrenergic receptor

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