Abstract
In this case-control study, we analyzed the association between eight RegulomeDB-annotated single nucleotide polymorphisms (SNPs) in the MEK1, MEK2, ERK1 and ERK2 genes and polycystic ovarian syndrome (PCOS). Logistic regression analysis demonstrated that MEK1 rs12050732 (OR = 1.29 [95%CI: 1.06-1.58], P = 0.012), ERK2 rs2266966 (OR = 0.81 [95%CI: 0.67-0.99], P = 0.040) and ERK2 rs5999521 (OR = 0.66 [95%CI: 0.51-0.86], P = 0.002) were associated with PCOS risk without adjusting for age and body mass index. Moreover, PCOS risk increased with allele dosage when these three polymorphisms were combined (Ptrend = 0.001). These findings suggest that genetic variants in key MAPK and ERK genes contribute to PCOS risk in Chinese women.
Highlights
Polycystic ovarian syndrome (PCOS) is a common endocrine syndrome associated with oligo-ovulation or anovulation among women of reproductive age [1, 2]
We observed no significant association between the three single nucleotide polymorphisms (SNPs) and polycystic ovarian syndrome (PCOS) risk in subgroups stratified by age (≤ 30 y and > 30 y) and body mass index (BMI) (≤ 25 kg/m2 and > 25 kg/m2; data not shown). In this case-control study of Chinese individuals, we evaluated the association of genetic variants identified by RegulomeDB in mitogenactivated protein kinases (MAPKs)/extracellular signal-regulated kinases (ERKs) genes with PCOS susceptibility
We found that MEK1 rs12050732, ERK2 rs2266966 and ERK2 rs5999521 were associated with PCOS risk
Summary
Polycystic ovarian syndrome (PCOS) is a common endocrine syndrome associated with oligo-ovulation or anovulation among women of reproductive age [1, 2]. PCOS is associated with increased risk for metabolic syndromes like insulin resistance, obesity and type 2 diabetes [2, 4, 5]. Both environmental and genetic factors contribute to the complex pathophysiology of PCOS. The MAPK/ERK signaling pathway is associated with steroid biosynthesis in ovarian granulosa cells [11, 12]. Aberrant MAPK/ERK signaling contributes to metabolic signaling defects and excessive ovarian androgen production in women with PCOS [13, 14]. There is www.impactjournals.com/oncotarget increasing evidence that MAPK/ERK pathway genes are associated with PCOS risk
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