|| common in clinvar
|?|| (A;A) (A;C) (C;C) ||28|
Gene variants associated with deep vein thrombosis
Updated analysis of gene variants associated with deep vein thrombosis.[PMID 20124536]
- rs13146272 in CYP4V2 (risk allele frequency, 0.64) OR 1.24 (95% CI, 1.11-1.37) for rs13146272
- rs2227589 in SERPINC1 (risk allele frequency, 0.10) OR 1.29 (95% CI, 1.10-1.49) for rs2227589
- rs1613662 in GP6 (risk allele frequency, 0.84) OR 1.15 (95% CI, 1.01-1.30) for rs1613662
A study of 453 VTE cases and 1,327 controls was able to replicate the "mild effects" of this SNP on risk for VTE, however they felt that stronger associations were found between increased VTE risk and either the Factor V Leiden mutation (rs6025)or having blood types O or A2.[PMID 19278955]
| Disease Association
|| Defects in CYP4V2 are a cause of Bietti crystalline corneoretinal dystrophy (BCD) (MIM:210370). BCD is an autosomal recessive retinal dystrophy characterized by multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field. Most cases have similar crystals at the corneoscleral limbus. Clinically, BCD is progressive. Patients develop decreased vision, nyctalopia, and paracentral scotomata between the 2nd and 4th decade of life. Later, patients develop peripheral visual field loss and marked visual impairment, usually progressing to legal blindness by the 5th or 6th decade of life.
[PMID 20031567] An evaluation of candidate genes of inflammation and thrombosis in relation to the risk of venous thromboembolism: The Women's Genome Health Study.
[PMID 21232005] New gene variants associated with venous thrombosis: a replication study in White and Black Americans.
|| not reviewed
|| Insufficiently evaluated not reviewed
[PMID 25091233] Association of F11 polymorphism rs2289252 with deep vein thrombosis and related phenotypes in population of Latvia