Polymorphisms in JMJD1C are associated with pubertal onset in boys and reproductive function in men

作者: Anne Kirstine Bang , Loa Nordkap , John E. Nielsen , Ewa Rajpert-De Meyts , Anders Juul

DOI: 10.1038/S41598-017-17575-9

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摘要: JMJD1C, a member of the Jumonji-domain containing histone demethylases protein family, has been associated with levels sex-hormone binding globulin (SHBG) and testosterone in men, knock-out rodent models show age-dependent infertility. The objective this study was to investigate whether single nucleotide polymorphisms (SNPs) nearby JMJD1C are pubertal onset boys male reproduction. 671 peri-pubertal boys, 1,027 young 315 fertile 252 infertile men were genotyped for two SNPs (rs7910927 rs10822184). rs7910927 rs10822184 showed high linkage. Boys TT genotype entered puberty 3.6 months earlier than their peers (p = 2.5 × 10−2). In number T alleles decreased SHBG, follicle-stimulating hormone (FSH), testosterone, x luteinizing hormone, as well increased Inhibin B, B/FSH ratio, testis size. No significant associations semen parameters observed distribution comparable among men. conclusion, genetic variation vicinity had surprisingly large impact on age at reproductive hormones size emphasizing relationship between functions.

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