• PMID: 17651405
• Gene Name: AR
• Condition: Male infertility
• Association: In conclusion, the results implicated the AR-HAP4 gene haplotype in increased risk for male infertility, while no association was found between AR CAG/GGN microsatellites and impaired spermatogenesis.
• Mutation: AR CAG/GGN microsatellites
• Population size: 324
• Population details: 324 (112 infertile, 212 control)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male infertility

Androgen receptor gene haplotype is associated with male infertility

Saare M, Belousova A, Punab M, Peters M, Haller K, Ausmees K, Poolamets O, Karro H, Metspalu A, Salumets A.

The purpose of the current study was to evaluate the importance of androgen receptor (AR) gene haplotypes and polymorphic CAG/GGN microsatellites in the aetiology of male infertility. We genotyped six haplotype-tagging single nucleotide polymorphisms and CAG/GGN microsatellites of the AR gene in 112 infertile and 212 control Estonian men. A total of 13 AR haplotypes (HAP1-13) were identified, among which HAP4 was found to confer increased risk for male infertility (OR = 5.15, 95% CI = 1.75-15.15, p = 0.003). However, infertile patients and controls had similar lengths and distributions of both AR CAG (mean +/- SD number of repeats 21.1 +/- 2.5 vs. 21.2 +/- 2.3, respectively) and GGN (mean +/- SD number of repeats 22.5 +/- 1.5 vs. 22.4 +/- 1.9, respectively) repeats. In addition, HAP2 was associated with more CAG repeats (r = 1.17, p = 0.033) and HAP3 with fewer CAG repeats (r = -2.93, p < 0.001) than the major haplotype HAP1. HAP3 and HAP4 were associated with more GGN repeats (r = 1.35, p = 0.001 and r = 1.36, p = 0.002, respectively) than HAP1. In conclusion, our results implicated the AR-HAP4 gene haplotype in increased risk for male infertility, while no association was found between AR CAG/GGN microsatellites and impaired spermatogenesis. FAU - Saare, M AU - Saare M AD - Department of Obstetrics and Gynaecology, University of Tartu, Tartu, Estonia. FAU - Belousova, A AU - Belousova A FAU - Punab, M AU - Punab M FAU - Peters, M AU - Peters M FAU - Haller, K AU - Haller K FAU - Ausmees, K AU - Ausmees K FAU - Poolamets, O AU - Poolamets O FAU - Karro, H AU - Karro H FAU - Metspalu, A AU - Metspalu A