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Hum. Reprod. Advance Access originally published online on August 11, 2006
Human Reproduction 2006 21(12):3185-3192; doi:10.1093/humrep/del313
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© The Author 2006. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Association of genetic markers within the KIT and KITLG genes with human male infertility

J.J. Galan1, M. De Felici2, B. Buch3, M.C. Rivero1, A. Segura4, J.L. Royo1, N. Cruz5, L.M. Real1 and A. Ruiz1,6

1 Department of Structural Genomics, Neocodex SL, Sevilla, Spain 2 Department of Public Health and Cell Biology, University of Rome Tor Vergata, Rome, Italy 3 Unidad de Reproducción, Centro Gutenberg, Malaga 4 Unidad de Andrología, Hospital General Universitario de Alicante and 5 Servicio de Urología, Hospital Universitario Virgen el Rocío, Sevilla, Spain

6 To whom correspondence should be addressed at: Department of Structural Genomics, Neocodex SL, Centro de Negocios Charles Darwin, Avda, Charles Darwin s/n Isla de la Cartuja, 41092 Sevilla, Spain. E-mail: aruiz{at}neocodex.es

BACKGROUND: There is much evidence involving the KIT tyrosine kinase receptor and its ligand KITLG in the survival and proliferation of germ cells. Animal models and functional studies in humans suggest that this signalling pathway plays a role in male infertility. METHODS: We studied three and two single-nucleotide polymorphisms (SNPs) (rs3819392, rs3134885, rs2237012, rs10506957 and rs995030) located within the genomic region of the KIT and KITLG genes, respectively. A total of 167 idiopathic infertile men (sperm counts <5 million spz/ml) and 465 unrelated healthy controls from the same geographical region were genotyped for these SNPs. RESULTS: We found a statistically significant association of the rs3819392 polymorphism, which is located within the KIT gene, with idiopathic male infertility. In addition, a deviation from the Hardy–Weinberg equilibrium (HWE) law was observed for rs10506957 polymorphism within the KITLG gene only in the infertile group. CONCLUSIONS: Our data indicate that the KIT/KITLG system may be involved in a low sperm count trait in humans.

Key words: association study/KIT/KITLG/male infertility/polymorphism


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