• PMID: 16905672
• Gene Name: KIT
• Condition: Male infertility
• Association: The study 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 rs105069
• Mutation: rs3819392, rs3134885, rs2237012, rs10506957 and rs995030
• Population size: 632
• Population details: 632 (167 idiopathic infertile men, 465 unrelated healthy controls)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: KIT, KITLG
• Other associated phenotypes: Male infertility

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

Galan JJ, De Felici M, Buch B, Rivero MC, Segura A, Royo JL, Cruz N, Real LM, Ruiz A.

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. FAU - Galan, J J AU - Galan JJ AD - Department of Structural Genomics, Neocodex SL, Sevilla, Spain. FAU - De Felici, M AU - De Felici M FAU - Buch, B AU - Buch B FAU - Rivero, M C AU - Rivero MC FAU - Segura, A AU - Segura A FAU - Royo, J L AU - Royo JL FAU - Cruz, N AU - Cruz N FAU - Real, L M AU - Real LM