Absence of ABCA1 Mutations in Individuals with Low Serum HDL-Cholesterol

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Abstract
Many different mutations have been identified in the ABCA1 gene in both TD and FHA patients (4)(5)(6)(7)(8)(9). However, the prevalence of these mutations in a general population with low HDL-C remains unknown. We chose seven mutations, two associated with TD (T4369C and A1730G) and five associated with FHA (del2017–2019, C6370T, C2665T, T3212C, and del5618–5623), and screened 257 individuals with serum HDL-C ≤300 mg/L [mean (SD), 258 (39) mg/L] and serum triglycerides ≤2500 mg/L [1570 (470) mg/L] for these mutations. Of the 257 individuals, 209 were patients with premature coronary artery disease (documented by angiographically confirmed atherosclerosis and/or one or more episodes of myocardial infarction or coronary artery bypass surgery before age of 55 years), including 193 males ranging in age from 19 to 69 years [mean (SD) age, 49.7 (5.7) years], and 16 females ranging in age from 25 to 59 years [47.5 (8.2) years]. The remaining 48 individuals were patients undergoing diagnostic evaluation for cardiovascular disease; of these, 40 were males ranging in age from 19 to 69 years [48.7 (12.2) years], and 8 were females ranging in age from 17 to 59 years [40.5 (14.3) years]. The patients represented individuals seen over a period of 4 years at the Minneapolis Heart Institute and were of mixed ancestry common to the upper Midwestern region of the US, belonging to no particular ethnic group. This study was approved by the Institutional Review Board: Human Subjects Committee of the University of Minnesota, and all participants gave informed consent. Mutations were detected as described previously (4)(7).

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