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• W2896421185 abstract "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." @default.
• W2896421185 created "2018-10-26" @default.
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• W2896421185 date "2018-12-01" @default.
• W2896421185 modified "2023-10-12" @default.
• W2896421185 title "Genetic and secondary causes of severe HDL deficiency and cardiovascular disease" @default.
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• W2896421185 doi "https://doi.org/10.1194/jlr.m088203" @default.
• W2896421185 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6277167" @default.
• W2896421185 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30333156" @default.
• W2896421185 hasPublicationYear "2018" @default.
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