• PMID: 19926884
• Gene Name: SRD5A2
• Condition: Azoospermia, Oligozoospermia
• Association: Not Associated
• Mutation: SRD5A2 (rs632148, rs523349, rs2300701, rs2268797, and rs12470143)
• Population size: 343
• Population details: 343 (132 azoospermic or oligozoospermic, 211 normozoospermic men)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: SRD5A2
• Other associated phenotypes: Azoospermia, Oligozoospermia

Analysis of polymorphisms in the SRD5A2 gene and semen parameters in Estonian men

Peters M, Saare M, Kaart T, Haller-Kikkatalo K, Lend AK, Punab M, Metspalu A, Salumets A.

Spermatogenesis is an androgen-dependent process and polymorphisms in genes encoding androgen-metabolizing enzymes may be associated with impaired male fertility. The enzyme steroid 5α-reductase converts testosterone into dihydrotestosterone. We analyzed genotype frequencies of 5 single-nucleotide polymorphisms (SNPs 1-5) (rs632148, rs523349, rs2300701, rs2268797, and rs12470143) in the steroid 5α-reductase type 2 gene (SRD5A2) in 132 azoospermic or oligozoospermic and 211 normozoospermic men. We found no association between investigated genotypes and the occurrence of male infertility. Linear regression analysis revealed a significant correlation between certain alleles of SNP1 and SNP5 and testicular volume among control men. Normozoospermic men carrying the minor allele of all but SNP5 polymorphism exhibited a significantly higher proportion of progressively motile spermatozoa, compared with major homozygotes. However, SRD5A2 genotypes did not influence sperm concentration, serum testosterone, or follicle-stimulating hormone levels in controls. Our results suggest that polymorphisms examined in SRD5A2 exhibit no adverse effect on semen parameters in Estonian men. FAU - Peters, Maire AU - Peters M AD - Department of Obstetrics and Gynecology, University of Tartu, L. Puusepa 8, Tartu 51014, Estonia. mpeters@ebc.ee FAU - Saare, Merli AU - Saare M FAU - Kaart, Tanel AU - Kaart T FAU - Haller-Kikkatalo, Kadri AU - Haller-Kikkatalo K FAU - Lend, Ave Kris AU - Lend AK FAU - Punab, Margus AU - Punab M FAU - Metspalu, Andres AU - Metspalu A