Role of genes polymorphism related to progesterone elevation in GnRH agonist long protocol.

ABSTRACT Research Question : Can single nucleotide polymorphisms (SNPs) of genes related to progesterone (P) synthesis predict the premature serum P elevation risk? Design : 765 patients were divided into high P (HP) and normal P (NP) groups. Association analysis was performed between genetic information from whole exome sequencing and clinical characteristics of the two groups to identify the relationship in SNPs, haplotyes and serum P elevation. Results : Among 40 common SNPs of 8 genes (including FSHR, LHCGR, ESR1, ESR2, PGR, HSD3B1, CYP11A1 and CYP17A1), no statistical significance between HP and NP groups was identified in the distribution of genotypes and allele frequencies after multiple test correction to adjust the false discovery rate (PFDR>0.05). When compared with the most common haplotypes in each gene, haplotype "GAAG" in CYP17A1 showed a 1.44-fold increased risk of progesterone elevation (95% CI: 1.22-1.69, PFDR Conclusions : Polymorphism in genes involved in enzymes or hormone receptors on the pathway of progesterone synthesis might have a role in modifying serum progesterone elevation risk.