Interaction between common variants of FTO and MC4R is associated with risk of PCOS.

BACKGROUND: Polycystic ovary syndrome (PCOS) is a common and complex endocrine-metabolic disease. One of the well-documented characteristics of PCOS is obesity or overweightness. It is possible to be genetically predisposed to becoming obese or overweight, and several potentially causative single nucleotide polymorphisms (SNPs), such as rs9939609 (A/T) in the fat mass, and obesity-associated gene (FTO) and rs17782313 (T/C) in the melanocortin-4 receptor gene (MC4R), have been investigated. Further investigation of association between obesity-associated SNPs and PCOS susceptibility will contribute to a better understanding of the disease. METHODS: In the present study, we enrolled 733 patients with PCOS and 892 control subjects. The common variants FTO rs9939609 and MC4R rs17782313 were genotyped and their relationship with obesity-related traits was evaluated. RESULTS: Rs9939609 and rs17782313 are associated with PCOS and obesity-related traits and profiles. The association found between PCOS and FTO rs9939609 (p=0.0302) was attenuated after adjustment for BMI (p=0.187). MC4R rs17782313 did not confer an increased risk for PCOS (p=0.368) even after adjustments (p=0.715). Interestingly, the interaction of FTO and MC4R polymorphisms was more significantly associated with PCOS (p=0.031, adjusted for age and BMI). The FTO variant rs9939609 is associated with Chinese women with PCOS; however, this association is affected by BMI. CONCLUSIONS: The combined pathogenic effect of FTO and MC4R polymorphisms indicates a direct role of the interaction between FTO and MC4R polymorphisms in the development of PCOS.

[Expression of midkine in eutopic and ectopic endometrium of patients with severe endometriosis and its clinical significance].

OBJECTIVE: To investigate the expression of midkine (MK) in eutopic and ectopic endometrium of patients with severe endometriosis and its clinical significance. METHODS: Immunohistochemical streptavidin-biotin peroxidase (SP) method was used to detect MK expression and microvessel density (MVD) in eutopic and ectopic endometrium. Specimens of eutopic and ectopic endometrium were collected from 41 patients with serious endometriosis (study group) and 32 patients with uterine fibroid (control group). RESULTS: The positive rate of MK expression in the eutopic endometrium from study group was 63% (26/41). It was significantly higher than that in the ectopic endometrium from study group was 29% (12/41) and the eutopic endometrium from control group was 22% (7/32, P < 0.05). MK expression was positively correlated to microvessel density (r = 0.637, P < 0.05). CONCLUSION: Over-expression of MK protein is showed in the eutopic endometrium of patients with severe endometriosis and correlated to endometriotic angiogenesis. The change of MK expression in eutopic endometrium may be related to the pathogenesis of severe endometriosis.