rs17833172

This is a regulatory region variant variant in the ADD1 gene.

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Research that mentions this SNP (1)

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Polymorphisms in the GNB3 and ADD1 genes and blood pressure in a Chinese population
AssociationN=2,746Shufeng Chen et al.(2010)· Human Genetics

A study of 2,746 Han Chinese participants from 636 families examined associations between 12 SNPs in GNB3 and ADD1 genes and blood pressure (SBP, DBP, MAP). The GNB3 SNP rs4963516 showed significant association with diastolic blood pressure and mean arterial pressure, with CC homozygotes having 2.35 mmHg higher DBP (P=0.0002) and 2.45 mmHg higher MAP (P=0.0004) compared to A allele carriers, suggesting a role for GNB3 in blood pressure regulation in Chinese populations.

Traits studied:Blood pressureDiastolic blood pressureEssential hypertensionMean arterial pressureSystolic blood pressure
PubMedDOIMetascience Observatory

About ADD1

Adducins are a family of cytoskeletal proteins encoded by three genes (alpha, beta, and gamma). Adducin acts as a heterodimer of the related alpha, beta, or gamma subunits. The protein encoded by this gene represents the alpha subunit. Alpha- and beta-adducin include a protease-resistant N-terminal region and a protease-sensitive, hydrophilic C-terminal region. Adducin binds with high affinity to Ca(2+)/calmodulin and is a substrate for protein kinases A and C. [provided by RefSeq, Aug 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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