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JLR Patient-Oriented and Epidemiological Research
1 Results
- Patient-Oriented and Epidemiological ResearchOpen Access
Genetic and secondary causes of severe HDL deficiency and cardiovascular disease
Journal of Lipid ResearchVol. 59Issue 12p2421–2435Published online: October 17, 2018- Andrew S. Geller
- Eliana Y. Polisecki
- Margaret R. Diffenderfer
- Bela F. Asztalos
- Sotirios K. Karathanasis
- Robert A. Hegele
- and others
Cited in Scopus: 29We 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 <20 mg/dl. We excluded 206 subjects (40.1%) with significant elevations of triglycerides, C-reactive protein, glycosylated hemoglobin, myeloperoxidase, or liver enzymes and men receiving testosterone. We sequenced 23 lipid-related genes in 201 (65.3%) of 308 eligible subjects. Mutations (23 novel) and selected variants were found at the following gene loci: 1) ABCA1 (26.9%): 2 homozygotes, 7 compound or double heterozygotes, 30 heterozygotes, and 2 homozygotes and 13 heterozygotes with variants rs9282541/p.R230C or rs111292742/c.-279C>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.
