rs9841978

This is a intron variant variant in the CACNA1D gene.

▶

GWAS Catalog Trait Associations (1)

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

Calcium channel blocker use measurement

Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele A
OR 0.06
p 2.0e-13
N 204,378
Major Consortium StudyLarge GWAS
European
▶

Research that mentions this SNP (1)

▶
The human L-type calcium channel Cav1.3 regulates insulin release and polymorphisms in CACNA1D associate with type 2 diabetes
AssociationN=11,817Reinbothe TM et al.(2013)· Diabetologia

This study demonstrates that the L-type calcium channel Cav1.3 (encoded by CACNA1D) is essential for human insulin secretion and that genetic variants in CACNA1D associate with type 2 diabetes. The authors show that CACNA1D expression exceeds CACNA1C by ~60-fold in human beta cells, is reduced in type 2 diabetic islets, and identify three SNPs (rs312480 with beta=-0.103, rs312486 with OR=1.17, and rs9841978 with OR=1.16) associated with altered insulin secretion and/or type 2 diabetes risk.

Traits studied:Glucose toleranceInsulin secretionType 2 diabetes
PubMedDOIMetascience Observatory

About CACNA1D

Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

View all CACNA1D variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…