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

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-nucle...

Full description

Saved in:
Bibliographic Details
Published inHuman reproduction (Oxford) Vol. 21; no. 12; pp. 3185 - 3192
Main Authors Galan, J.J., De Felici, M., Buch, B., Rivero, M.C., Segura, A., Royo, J.L., Cruz, N., Real, L.M., Ruiz, A.
Format Journal Article
LanguageEnglish
Published England Oxford University Press 01.12.2006
Oxford Publishing Limited (England)
Subjects
Biological and medical sciences
Chromosome Mapping
Gene Frequency
Genetic Markers - genetics
Gynecology. Andrology. Obstetrics
Haplotypes
Humans
Infertility, Male - etiology
Infertility, Male - genetics
Male
Medical sciences
Polymorphism, Single Nucleotide
Proto-Oncogene Proteins c-kit - genetics
Stem Cell Factor - genetics
KITLG
polymorphism
male infertility
association study
KIT
Human
Vertebrata
Mammalia
Genetic marker
Kit
Male sterility
association study/KIT/KITLG/male infertility/polymorphism
Male genital diseases
kit Gene
Polymorphism
Online AccessGet full text

Cover

More Information
Summary: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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0268-1161
1460-2350
DOI:10.1093/humrep/del313