rs12472555

This is a intron variant variant in the SLC4A10 gene.

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GWAS Catalog Trait Associations (2)

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

brain volume

Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)

Allele G

OR 0.06

p 2.0e-9

N 21,282

Major Consortium StudyLarge GWAS

European

social interaction measurement

Day FR et al. “Elucidating the genetic basis of social interaction and isolation.” Nature Communications 9(1):2457 (2018)

Allele T

OR 0.01

p 2.0e-8

N 452,302

Large GWAS

European

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Research that mentions this SNP (1)

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The Role of Clusterin, Complement Receptor 1, and Phosphatidylinositol Binding Clathrin Assembly Protein in Alzheimer Disease Risk and Cerebrospinal Fluid Biomarker Levels

MethodsN=30,717Brit-Maren M. Schjeide et al.(2011)· Archives of General Psychiatry

This paper presents a novel bioinformatics method combining Gene Ontology (GO) with stratified false discovery rate (sFDR) analysis to prioritize genes for imaging genetics studies. Applied to ENIGMA2 GWAS meta-analysis data of hippocampal volume (N=30,717 individuals, 6,570,616 SNPs), the transport system gene network identified SNPs with sFDR q-values between 10-20%, including rs117831534 and rs118025365 in TESC (p=4.91e-07 and 4e-07), and multiple SNPs in SLC4A10 and KCNH7. The method demonstrates improved statistical power for discovering imaging genetic biomarkers without excessive multiple testing burden.

Traits studied:Alzheimer's diseaseHippocampal volume

PubMed DOI Metascience Observatory

About SLC4A10

This gene belongs to a small family of sodium-coupled bicarbonate transporters (NCBTs) that regulate the intracellular pH of neurons, the secretion of bicarbonate ions across the choroid plexus, and the pH of the brain extracellular fluid. The protein encoded by this gene was initially identified as a sodium-driven chloride bicarbonate exchanger (NCBE) though there is now evidence that its sodium/bicarbonate cotransport activity is independent of any chloride ion countertransport under physiological conditions. This gene is now classified as a member A10 of the SLC4 family of transmembrane solute carriers. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]