We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
ABCA1 gene polymorphisms and their associations with coronary artery disease and plasma lipids in males from three ethnic populations in Singapore.
- Authors
Jenny Hui-Hui Tan; Poh-Sim Low; Yong-Seng Tan; Ming-Chuan Tong; Saha, Nilmani; Hongyuan Yang; Chew-Kiat Heng
- Abstract
Mutations in the ATP-binding cassette transporter ABCA1 underlie Tangier disease and familial hypoalphaliproteinemia (FHA), disorders that are characterised by reduced high-density lipoprotein-cholesterol (HDL-C) concentration and cholesterol efflux, and increased coronary artery disease (CAD). We explored if polymorphisms in the ABCA1 gene are associated with CAD and variations in plasma lipid levels, especially HDL-C, and whether the associations may depend on ethnicity. Male cases and controls from the Singapore Chinese, Malay and Indian populations were genotyped for five ABCA1 single nucleotide polymorphisms. Various single-locus frequency distribution differences between cases and controls were detected in different ethnic groups: the promoter -14C>T in Indians, exon 18 M883I in Malays, and 3′-untranslated (UTR) region 8994A>G in Chinese. For the Malay population, certain haplotypes carrying the I825-A (exon 17) and M883-G alleles were more frequent among cases than controls, whereas the converse was true for the alternative configuration of V825-G and I883-A, and this association was reinforced in multi-locus disequilibrium analysis that utilized genotypic data. In the healthy controls, associations were found for -14C>T genotypes with HDL-C in Chinese; 237indelG (5′UTR) with apolipoprotein A1 (apoA1) in Malays and total cholesterol (TC) in Indians; M883I with lipoprotein(a) [Lp(a)] in Malays and apolipoprotein B (apoB) in Chinese; and 8994A>G with Lp(a) in Malays, and TC, low-density lipoprotein-cholesterol (LDL-C) as well as apoB in Indians. While genotype-phenotype associations were not reproduced across populations and loci, V825I and M883I were clearly associated with CAD status in Malays with no effects on HDL-C or apoA1.
- Subjects
GENETIC polymorphisms; CORONARY disease; ATP-binding cassette transporters; GENETIC mutation; BLOOD lipids; HUMAN genetics
- Publication
Human Genetics, 2003, Vol 113, Issue 2, p106
- ISSN
0340-6717
- Publication type
Article
- DOI
10.1007/s00439-003-0943-3