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Association of the ABCA1 gene polymorphisms with type 2 DM in a Japanese population

2005; Elsevier BV; Volume: 329; Issue: 1 Linguagem: Inglês

10.1016/j.bbrc.2005.01.119

1090-2104

Makoto Daimon, Takashi Kido, Masanori Baba, Toshihide Oizumi, Yumi Jimbu, Wataru Kameda, Hiroshi Yamaguchi, Hiroshi Ohnuma, Makoto Tominaga, Masaaki Muramatsu, Takeo Kato,

Peroxisome Proliferator-Activated Receptors

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).