Androgen receptor gene haplotype is associated with male infertility |
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Authors: | Saare M Belousova A Punab M Peters M Haller K Ausmees K Poolamets O Karro H Metspalu A Salumets A |
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Institution: | Department of Obstetrics and Gynaecology, University of Tartu, Tartu, Estonia;, Institute of Molecular and Cell Biology, Department of Biotechnology, University of Tartu, Tartu, Estonia;, Andrology Unit of Tartu University Clinicum, Tartu, Estonia;, and Institute of General and Molecular Pathology, Department of Immunology, University of Tartu, Tartu, Estonia |
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Abstract: | 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. |
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Keywords: | androgen receptor gene gene haplotypes male infertility microsatellite analysis |
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