| Autor: |
Antoine, Rimbert, Ming W, Yeung, Nawar, Dalila, Chris H L, Thio, Haojie, Yu, Natalia, Loaiza, Federico, Oldoni, Adriaan, van der Graaf, Siqi, Wang, M Abdullah, Said, Lisanne L, Blauw, Aurore, Girardeau, Lise, Bray, Amandine, Caillaud, Vincent W, Bloks, Marie, Marrec, Philippe, Moulin, Patrick C N, Rensen, Bart, van de Sluis, Harold, Snieder, Mathilde, Di Filippo, Pim, van der Harst, Anne, Tybjaerg-Hansen, Philip, Zimmerman, Bertrand, Cariou, Jan Albert, Kuivenhoven |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Arteriosclerosis, thrombosis, and vascular biology. 42(10) |
| ISSN: |
1524-4636 |
| Popis: |
In mice, GPR146 (G-protein-coupled receptor 146) deficiency reduces plasma lipids and protects against atherosclerosis. Whether these findings translate to humans is unknown.Common and rare genetic variants in theIn the UK Biobank, carriers of the common rs2362529-C allele present with lower low-density lipoprotein cholesterol, apo (apolipoprotein) B, high-density lipoprotein cholesterol, apoAI, CRP (C-reactive protein), and plasma liver enzymes compared with noncarriers. Carriers of the common rs1997243-G allele, associated with higher GPR146 expression, present with the exact opposite phenotype. The associations with plasma lipids of the above alleles are allele dose-dependent. Heterozygote carriers of a rare coding variant (p.Pro62Leu; n=2615), predicted to be damaging, show a stronger reductions in the above parameters compared with carriers of the common rs2362529-C allele. The p.Pro62Leu variant is furthermore shown to segregate with low low-density lipoprotein cholesterol in a family with familial hypobetalipoproteinemia. Compared with controls, carriers of the common rs2362529-C allele show a marginally reduced risk of coronary artery disease (This study shows that carriers of new genetic |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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