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

被引：36

作者：

Galan, J. J.

De Felici, M.

Buch, B.

Rivero, M. C.

Segura, A.

Royo, J. L.

Cruz, N.

Real, L. M.

Ruiz, A.

机构：

[1] Neocodex SL, Dept Struct Genom, Seville, Spain

[2] Univ Roma Tor Vergata, Dept Publ Hlth & Cell Biol, I-00173 Rome, Italy

[3] Ctr Gutenberg, Unidad Reprod, Malaga, Spain

[4] Hosp Gen Univ Alicante, Unidad Androl, Seville, Spain

[5] Hosp Univ Virgen el Rocio, Serv Urol, Seville, Spain

来源：

HUMAN REPRODUCTION | 2006年 / 21卷 / 12期

关键词：

association study; KIT; KITLG; male infertility; polymorphism;

D O I：

10.1093/humrep/del313

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

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.

引用

页码：3185 / 3192

页数：8

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