rs7527192

This is a regulatory region variant variant in the PARP1 gene.

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Research that mentions this SNP (1)

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Lack of association between Poly(ADP-ribose) polymerase (PARP) polymorphisms and rheumatoid arthritis in a Korean population
AssociationN=2,181Kyeong-A Lee et al.(2012)· Rheumatology International

This case-control study of 1,202 Korean rheumatoid arthritis patients and 979 healthy controls found no significant association between PARP-1 polymorphisms and RA susceptibility overall. However, rs1805413 showed association with radiological severity of RA in a recessive model (OR=0.11, 95% CI 0.02-0.55, P=0.007), and haplotype 4 was associated with anti-CCP antibody negativity (OR=0.24, 95% CI 0.10-0.63, P=0.003).

Traits studied:Anti-CCP antibody statusRA radiological severityRheumatoid arthritisRheumatoid factor
PubMedDOIMetascience Observatory

About PARP1

This gene encodes a chromatin-associated enzyme, poly(ADP-ribosyl)transferase, which modifies various nuclear proteins by poly(ADP-ribosyl)ation. The modification is dependent on DNA and is involved in the regulation of various important cellular processes such as differentiation, proliferation, and tumor transformation and also in the regulation of the molecular events involved in the recovery of cell from DNA damage. In addition, this enzyme may be the site of mutation in Fanconi anemia, and may participate in the pathophysiology of type I diabetes. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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