title: Association of the ABCA1 gene polymorphisms with type 2 DM in a Japanese population.
abstract: To examine the association of the ATP-binding cassette transporter 1 (ABCA1) gene with type 2 diabetes (DM), we studied genetic polymorphisms of the ABCA1 gene including its linkage disequilibrium (LD) and haplotype analyses using a Japanese population. A sample set (DM:72, IGT:75, and NGT:227) was genotyped with 34 SNPs distributed from the promoter region to the last exon of the ABCA1 gene. LD between SNPs was assessed in pairwise manner. Among 13 LD blocks constructed, an LD block at the 5'-region showed a significant difference in the haplotype distribution between the study groups (NGT vs. IGT + DM: overall p = 0.0180; NGT vs. DM: 0.0001). Fisher's exact probability test (NGT vs. DM) showed a significant association of the haplotype 2 of the LD block (p = 0.0001), with an odds ratio (OR) of 2.53 (95%CI:1.62-4.12). Diplotype analysis also showed a significant association of the diplotypes with the haplotype 2 (OR:2.59, 95%CI:1.48-4.54, p = 0.0013).
authors.affiliation: Third Department of Internal Medicine, Yamagata University School of Medicine, Yamagata, Japan. mdaimon@med.id.yamagata-u.ac.jp
authors.forename: Makoto
authors.initials: M
authors.lastname: Daimon
authors.forename: Takashi
authors.initials: T
authors.lastname: Kido
authors.forename: Masanori
authors.initials: M
authors.lastname: Baba
authors.forename: Toshihide
authors.initials: T
authors.lastname: Oizumi
authors.forename: Yumi
authors.initials: Y
authors.lastname: Jimbu
authors.forename: Wataru
authors.initials: W
authors.lastname: Kameda
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Yamaguchi
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Ohnuma
authors.forename: Makoto
authors.initials: M
authors.lastname: Tominaga
authors.forename: Masaaki
authors.initials: M
authors.lastname: Muramatsu
authors.forename: Takeo
authors.initials: T
authors.lastname: Kato
mesh_terms: D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D008076:Cholesterol, HDL / Q000097:blood; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007564:Japan; D015810:Linkage Disequilibrium; D008297:Male; D008957:Models, Genetic; D016017:Odds Ratio; D011110:Polymorphism, Genetic
chemical_list: C577836:ABCA1 protein, human; D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters; D008076:Cholesterol, HDL