Association of genetic markers within the KIT and KITLG genes with human male infertility.
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.
Galan
J J
JJ
Department of Structural Genomics, Neocodex SL, Sevilla, Spain.
De Felici
M
M
Buch
B
B
Rivero
M C
MC
Segura
A
A
Royo
J L
JL
Cruz
N
N
Real
L M
LM
Ruiz
A
A
D002874:Chromosome Mapping; D005787:Gene Frequency; D005819:Genetic Markers / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007248:Infertility, Male / Q000209:etiology / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D019089:Stem Cell Factor / Q000235:genetics*
D005819:Genetic Markers; D019089:Stem Cell Factor; D019009:Proto-Oncogene Proteins c-kit