rs704178
This is a intron variant variant in the ABCC9 gene.
▶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.
hippocampal sclerosis of aging
▶Research that mentions this SNP (2)
▶ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathologyAssociationN=2,666Peter T. Nelson et al.(2014)· Acta Neuropathologica
This is the first genome-wide association study (GWAS) of hippocampal sclerosis of aging (HS-Aging), a common neuropathology in elderly individuals. The study analyzed 363 HS-Aging cases and 2,303 controls from multiple autopsy cohorts and identified that rs704178:G in the ABCC9 gene (ATP-binding cassette, sub-family C member 9, also known as sulfonylurea receptor 2) is associated with HS-Aging pathology with genome-wide significance (p = 1.4 × 10⁻⁹, OR = 2.13 in recessive mode). The authors also confirmed previously identified associations with rs5848 (GRN, OR = 1.16) and rs1990622 (near TMEM106B, OR = 1.22). Additionally, sulfonylurea drug exposure in elderly subjects (n = 624, age ≥85 at death) was associated with increased HS-Aging risk (p = 0.03), identifying a potentially targetable dementia risk factor.
▶Replication of Genome‐Wide association studies (GWAS) loci for sleep in the British G1219 cohortAssociationN=2,666Michael J. Parsons et al.(2013)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Genome-wide association study of hippocampal sclerosis of aging (HS-Aging) pathology in 363 cases and 2,303 neuropathologically confirmed controls found that rs704178 in the ABCC9 gene (sulfonylurea receptor 2) was significantly associated with HS-Aging (p = 1.4 × 10⁻⁹, OR = 2.13 recessive). Sulfonylurea drug exposure was also associated with HS-Aging risk (p = 0.03) in elderly individuals age 85+. Previously reported SNPs rs5848 (GRN) and rs1990622 (TMEM106B) showed trends toward association with similar effect sizes.
About ABCC9
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]
View all ABCC9 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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