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ANGPTL3

From SNPedia

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# SNPs8
 Max MagnitudeChromosome positionSummary
rs200785483062,597,951
rs267606655562,597,616
rs372257803562,598,067
rs398122985062,604,236
rs398122986062,597,621
rs398122987562,598,005
rs398122988562,597,929
rs398122989062,602,332

Angiopoietin-like 3, also known as ANGPTL3, is a protein that in humans is encoded by the ANGPTL3 gene on chromosome 1.Wikipedia

Hypobetalipoproteinemia, familial, type 2 (also known as familial combined hypolipidemia) is a co-dominantly inherited Mendelian condition characterized by substantial reductions in all 3 major lipid fractions, is caused by certain mutations in the ANGPTL3 gene.

An important question in clinical cardiology and drug development is whether ANGPTL3 deficiency actually reduces the risk of coronary artery disease (CAD). One recent (2017) study concludes that it does; 3 individuals with complete ANGPTL3 deficiency showed no evidence of coronary atherosclerotic plaque, and heterozygote carriers had a 34% reduction in odds of CAD (odds ratio 0.66, CI: 0.44 to 0.98, p = 0.04).[PMID 28385496]

Similarly, another 2017 paper did exome sequencing of over 58,000 Caucasians of European descent, and identified 13 distinct loss-of-function (LoF) variants in ANGPTL3 (in 400 of those individuals). Carriers of these variants had 27% lower triglyceride levels than noncarriers (p=2.5×10e-21) and 9% lower LDL cholesterol levels (p=2.8×10e-5) than noncarriers. Comparing ~35,000 CAD cases with 145,000 CAD-free controls, heterozygous carriers of an ANGPTL3 loss-of-function variant had ~50% lower ANGPTL3 (protein) levels than noncarriers and 39% lower odds of coronary artery disease (OR 0.61, CI:0.45-0.81, p < 0.001).[PMID 28538136]

In the 2017 study cited [PMID 28538136], 4 of the 13 LoF variants represented ~90% of all the alleles observed; these 4 are: