rs6003
This is a variant in the F13B gene that changes a arginine to an histidine.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
complement factor H-related protein 5 measurement
▶ClinVar annotation
Factor XIII, b subunit, deficiency of; Venous thrombosis, susceptibility to; not specified
View on ClinVar →▶Research that mentions this SNP (2)
▶Genetic variability in DNA repair and cell cycle control pathway genes and risk of smoking‐related lung cancerAssociationN=1,651Shama C. Buch et al.(2012)· Molecular Carcinogenesis
This case-control study of 722 lung cancer cases and 929 controls examined 240 SNPs in DNA repair and cell cycle control pathway genes among smokers. Thirty-eight SNPs were associated with lung cancer risk at P<0.05, with strongest associations in GTF2H4 (rs2074508), LIG1 (rs10500298), PARP1 (rs747658, rs3219073), and XRCC1 (rs1799782, rs3213255). A genetic risk score combining 31 SNPs showed 3.44-fold increased risk in the highest versus lowest quartile.
▶Exploration of the utility of ancestry informative markers for genetic association studies of African Americans with type 2 diabetes and end stage renal diseaseAssociationN=1,252Keith L. Keene et al.(2008)· Human Genetics
This study evaluated the impact of population admixture on genetic association studies of type 2 diabetes and end-stage renal disease in African Americans using 70 ancestry informative markers (AIMs) genotyped in 577 cases and 596 controls. Eight T2DM candidate genes (TCF7L2, PPARG, CAPN10, KCNJ11, TCF1, HNF4A, ESR1, ENPP1) with 208 SNPs total were analyzed for association, with 47 SNPs (22.6%) nominally associated before admixture adjustment, but 9 of those (4% overall, 19% of associated SNPs) lost significance after adjusting for African ancestry. The admixture impact on association results was significantly correlated with absolute delta values (differences in allele frequencies between Yoruba and European populations) across dominant (r²=0.1997, P=0.0051), additive (r²=0.2662, P=0.0015), and recessive (r²=0.1735, P=0.0410) models.
About F13B
This gene encodes coagulation factor XIII B subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as a plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon activation by the cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq, Jul 2008]
View all F13B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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