Several maternal risk factors that are associated with HS risk can interact with CYP1A1/CYP17A1 polymorphisms, which lead to infants vulnerable to occurrence of HS in Chinese populations.
In this study, we explored for association between 384 SNPs in 15 genes (AHR, AHRR, ARNT, ARNT2, NR1I2, RXRA, RXRB, RXRG, CYP1A1, CYP1A2, CYP1B1, CYP2B6, CYP3A4, CYP17A1 and CYP19A1) and risk of cryptorchidism (CO) and hypospadias (HS) in 334 Japanese (JPN) males (141 controls, 95 CO and 98 HS) and 187 Italian (ITA) males (129 controls and 58 CO).
As androgens have a significant role in the development of the male urethra, we sought to investigate the association between 2 functional polymorphisms, CYP17-A1/A2 and SRD5A2-V89L, which are involved in the biosynthesis of testosterone and dihydrotestosterone, respectively, in relation to hypospadias.
Heterozygous variants (A1/A2) of CYP17 were present in higher frequency (OR = 0.96; 95% CI = .518-1.770) and homozygous (A2) variants were less frequently found in hypospadias (OR = 0.87; 95% CI = .363-2.077), but results were insignificant.