rs2331291
This is a downstream gene variant variant in the MIAT gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶A Genetic Variant in the Seed Region of miR-4513 Shows Pleiotropic Effects on Lipid and Glucose Homeostasis, Blood Pressure, and Coronary Artery DiseaseReviewMohsen Ghanbari et al.(2014)· Human Mutation
A comprehensive review of long non-coding RNA (lncRNA) genetic variants identified by GWAS studies in cardiometabolic diseases including coronary artery disease, myocardial infarction, type 2 diabetes, and blood pressure traits. The review highlights key lncRNA loci such as CDKN2B-AS1/ANRIL at 9p21.3 (rs10757278, rs2891168), MIAT (rs4977574, rs10811661), H19 (rs217727), LOC157273 (rs9987289, rs4841132), KCNQ1OT1 (rs231362), and LINC00243 (rs886424), discussing mechanisms of how genetic variants in non-coding RNA regions influence cardiovascular and metabolic disease risk.
About MIAT
This gene encodes a spliced long non-coding RNA that may constitute a component of the nuclear matrix. Altered expression of this locus has been reported to be associated with a susceptibility to myocardial infarction. It has also been proposed that pathways involving this transcript may contribute to the pathophysiology of schizophrenia. A similar gene in mouse has been associated with retinal cell fate determination. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Dec 2014]
View all MIAT variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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