rs1805404

This is a protein-altering variant in the PARP1 gene.

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GWAS Catalog Trait Associations (2)

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

platelet count

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele A
OR 0.02
p 5.0e-20
N 542,827
Large GWAS
European

clonal hematopoiesis

Wen S et al. “Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.” Nature Genetics 57(3):572-582 (2025)
Allele A
OR 0.88
p 6.0e-11
N 398,696
Major Consortium StudyLarge GWAS
European
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Research that mentions this SNP (2)

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Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster.
ReviewMarta Sánchez Delgado et al.(2014)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This review examines the genetic and epigenetic basis of Tourette Syndrome (TS), a neurodevelopmental disorder with high heritability (0.45-0.77). The paper reviews candidate gene associations including variants in SLITRK1 (rs9593835, rs9546538, rs9531520), DRD2/ANKK1 (rs1800497), ADORA1/ADORA2A (rs2228079, rs5751876), and other dopaminergic genes, along with a large GWAS in 1285 cases and 4964 controls highlighting rs7868992 in COL27A1. The review proposes that epigenetic mechanisms (DNA methylation, histone modifications, non-coding RNAs) may link genetic susceptibility with environmental factors in TS pathogenesis.

Traits studied:Gilles de la Tourette SyndromeTic disordersTicsTourette Syndrome
PubMedDOIMetascience Observatory
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Evaluation of the poly(ADP‐ribose) polymerase‐1 gene variants in Alzheimer's disease
AssociationN=231Hsin‐Ping Liu et al.(2010)· Journal of Clinical Laboratory Analysis

This case-control study examined associations between PARP-1 gene variants and Alzheimer's disease risk in a Taiwanese population of 120 AD patients and 111 healthy controls. Individual SNP variants showed no significant associations; however, haplotype analysis revealed that Ht3-TT and Ht4-CC haplotypes were significantly associated with increased AD risk (P < 0.0001, OR: 12.22 for Ht3-TT), while the Ht1-TC haplotype was protective (P = 0.002, OR: 0.52).

Traits studied:Alzheimer's disease
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]

View all PARP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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