Genetic and secondary causes of severe HDL deficiency and cardiovascular disease1
| Autor: | Geller, Andrew S., Polisecki, Eliana Y., Diffenderfer, Margaret R., Asztalos, Bela F., Karathanasis, Sotirios K., Hegele, Robert A., Schaefer, Ernst J. |
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| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
Hypoalphalipoproteinemias
Male Heterozygote Apolipoprotein A-I lecithin:cholesterol acyltransferase high density lipoprotein metabolism Cholesterol HDL Homozygote ABCA1 lipoprotein lipase QD415-436 reverse cholesterol metabolism Biochemistry C-Reactive Protein Cardiovascular Diseases Mutation Humans Female lipids (amino acids peptides and proteins) Patient-Oriented and Epidemiological Research Lipoproteins HDL apoA-I ATP Binding Cassette Transporter 1 |
| Zdroj: | Journal of Lipid Research, Vol 59, Iss 12, Pp 2421-2435 (2018) |
| ISSN: | 0022-2275 |
| Popis: | We assessed secondary and genetic causes of severe HDL deficiency in 258,252 subjects, of whom 370 men (0.33%) and 144 women (0.099%) had HDL cholesterol levels G; 2) LCAT (12.4%): 1 homozygote, 3 compound heterozygotes, 13 heterozygotes, and 8 heterozygotes with variant rs4986970/p.S232T; 3) APOA1 (5.0%): 1 homozygote and 9 heterozygotes; and 4) LPL (4.5%): 1 heterozygote and 8 heterozygotes with variant rs268/p.N318S. In addition, 4.5% had other mutations, and 46.8% had no mutations. Atherosclerotic cardiovascular disease (ASCVD) prevalence rates in the ABCA1, LCAT, APOA1, LPL, and mutation-negative groups were 37.0%, 4.0%, 40.0%, 11.1%, and 6.4%, respectively. Severe HDL deficiency is uncommon, with 40.1% having secondary causes and 48.8% of the subjects sequenced having ABCA1, LCAT, APOA1, or LPL mutations or variants, with the highest ASCVD prevalence rates being observed in the ABCA1 and APOA1 groups. |
| Databáze: | OpenAIRE |
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