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PCSK9

From SNPedia
is agene
is mentioned by
Full nameproprotein convertase subtilisin/kexin type 9
EntrezGene255738
PheGenI255738
VariationViewer255738
ClinVarPCSK9
GeneCardsPCSK9
dbSNP255738
DiseasesPCSK9
SADR255738
HugeNav255738
wikipediaPCSK9
googlePCSK9
gopubmedPCSK9
EVSPCSK9
HEFalMpPCSK9
MyGene2PCSK9
23andMePCSK9
UniProtQ8NBP7
EnsemblENSG00000169174
OMIM607786
# SNPs31
 Max MagnitudeChromosome positionSummary
i500037055,518,073
rs1057516136055,059,519
rs1057519691055,043,958
rs115911474.555,039,974
rs137852912455,057,454
rs141502002055,058,549
rs143275858055,058,106
rs2479409055,038,977
rs2495478055,047,322
rs283622631.555,058,182
rs28362286355,063,542
rs289421114.555,044,016
rs289421124.555,052,400
rs369067856055,043,945
rs374603772055,058,630
rs505151055,063,514
rs562556055,058,564
rs564427867055,039,931
rs630431055,061,650
rs67608943355,046,549
rs72646508355,052,749
rs7517090055,049,283
rs7552841055,053,079
rs764603059055,039,940
rs772677312055,058,543
rs778738291055,044,020
rs778796405055,039,507
rs778849441055,058,538
rs793888521055,052,364
rs794728683055,052,398
rs886039839055,040,022


Located on chromosome 1, the PCSK9 gene provides instructions for making a protein that helps regulate the amount of cholesterol in the bloodstream. Several PCSK9 mutations are known that cause an inherited form of high cholesterol (familial hypercholesterolemia). Other mutations in the PCSK9 gene result in reduced blood cholesterol levels (hypocholesterolemia).GHR

Widespread DNA-based population screening of the PCSK9 gene as well as two other genes (LDLR and APOB) for familial hypercholesterolemia mutations is under discussion in several countries; one such discussion was published by the CDC in 2019 here as well as here.

Clinically, PCSK9 (proprotein convertase subtilisin/kexin type 9) inhibitors have emerged as a class of low-density lipoprotein cholesterol (LDL-C)–lowering drugs that lower LDL-C by approximately 60% and may thereby reduce the risk of major vascular events. In 2019, one report was published that suggested that a polygenic risk score based on 27 SNPs (GRS-27) might distinguish between patients who, regardless of clinical risk factors, gained benefit from taking evolocumab (a PCSK9 inhibitor) versus those who wouldn't.[PMID 31707849OA-icon.png]