rs4474514

This variant is located in the KITLG gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

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Research that mentions this SNP (2)

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Variants in BAK1, SPRY4, and GAB2 are associated with pediatric germ cell tumors: A report from the children's oncology group
AssociationN=366Marcotte EL et al.(2017)· Genes, Chromosomes and Cancer

Case-parent triad study of 366 pediatric and adolescent germ cell tumor (GCT) cases examining 26 SNPs from adult testicular GCT GWAS. Three variants reached multiple testing-corrected significance: SPRY4 rs4624820 (OR=0.70, protective), BAK1 rs210138 (OR=1.70, particularly strong for testicular tumors OR=3.31), and GAB2 rs948662 (OR=1.56). Maternal effects observed for KITLG rs4474514 (OR=1.66) and rs7221274 near TEX14/RAD51C/PPM1E (OR=1.63).

Traits studied:Adolescent germ cell tumorsExtragonadal germ cell tumorsGerm cell tumorsGerminomasIntracranial germ cell tumorsOvarian germ cell tumorsPediatric germ cell tumorsTeratomasTesticular germ cell tumorsYolk sac tumors
PubMedDOIMetascience Observatory
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Associations between variants in KITLG, SPRY4, BAK1, and DMRT1 and pediatric germ cell tumors
AssociationN=193Poynter JN et al.(2012)· Genes, Chromosomes and Cancer

This candidate gene association study evaluated four SNPs previously identified as susceptibility loci for adult testicular germ cell tumors (KITLG rs4474514, SPRY4 rs4324715, BAK1 rs210138, DMRT1 rs755383) in a pediatric population (52 cases, 141 controls). BAK1 rs210138 showed significant association with pediatric germ cell tumors overall (OR = 1.80, P = 0.02), while KITLG rs4474514 and SPRY4 rs4324715 were significantly associated only in the adolescent age group (10-21 years), suggesting age-dependent genetic susceptibility to pediatric germ cell tumors.

Traits studied:Extragonadal tumorsGerminomasGonadal tumorsPediatric germ cell tumorsTeratomasYolk sac tumors
PubMedDOIMetascience Observatory

About KITLG

This gene encodes the ligand of the tyrosine-kinase receptor encoded by the KIT locus. This ligand is a pleiotropic factor that acts in utero in germ cell and neural cell development, and hematopoiesis, all believed to reflect a role in cell migration. In adults, it functions pleiotropically, while mostly noted for its continued requirement in hematopoiesis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all KITLG variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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