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

被引：42

作者：

Daimon, M ^{[1
]}

Kido, T

Baba, M

Oizumi, T

Jimbu, Y

Kameda, W

Yamaguchi, H

Ohnuma, H

Tominaga, M

Muramatsu, M

Kato, T

机构：

[1] Yamagata Univ, Sch Med, Dept Internal Med 3, Yamagata 990, Japan

[2] HuBit Genomix Inc, Tokyo, Japan

[3] Yamagata Univ, Sch Med, Dept Lab Med, Yamagata 990, Japan

[4] Tokyo Med & Dent Univ, Med Res Inst, Dept Mol Epidemiol, Tokyo, Japan

来源：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 2005年 / 329卷 / 01期

关键词：

ABCA1; community-based case-control study; SNP; LD block; haplotype analysis; diplotype analysis genetics; HDL cholesterol; the Funagata study;

D O I：

10.1016/j.bbrc.2005.01.119

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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 (94%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). (C) 2005 Elsevier Inc. All rights reserved.

引用

页码：205 / 210

页数：6

共 31 条

[1] The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease [J].

Bodzioch, M ;

Orsó, E ;

Klucken, T ;

Langmann, T ;

Böttcher, L ;

Diederich, W ;

Drobnik, W ;

Barlage, S ;

Büchler, C ;

Porsch-Özcürümez, M ;

Kaminski, WE ;

Hahmann, HW ;

Oette, K ;

Rothe, G ;

Aslanidis, C ;

Lackner, KJ ;

Schmitz, G .

NATURE GENETICS, 1999, 22 (04) :347-351

[2] Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency [J].

Brooks-Wilson, A ;

Marcil, M ;

Clee, SM ;

Zhang, LH ;

Roomp, K ;

van Dam, M ;

Yu, L ;

Brewer, C ;

Collins, JA ;

Molhuizen, HOF ;

Loubser, O ;

Ouelette, BFF ;

Fichter, K ;

Ashbourne-Excoffon, KJD ;

Sensen, CW ;

Scherer, S ;

Mott, S ;

Denis, M ;

Martindale, D ;

Frohlich, J ;

Morgan, K ;

Koop, B ;

Pimstone, S ;

Kastelein, JJP ;

Genest, J ;

Hayden, MR .

NATURE GENETICS, 1999, 22 (04) :336-345

[3] Common variants in the gene encoding ATP-binding cassette transporter 1 in men with low HDL cholesterol levels and coronary heart disease [J].

Brousseau, ME ;

Bodzioch, M ;

Schaefer, EJ ;

Goldkamp, AL ;

Kielar, D ;

Probst, M ;

Ordovas, JM ;

Aslanidis, C ;

Lackner, KJ ;

Rubins, HB ;

Collins, D ;

Robins, SJ ;

Wilson, PWF ;

Schmitz, G .

ATHEROSCLEROSIS, 2001, 154 (03) :607-611

[4]

Clee SM, 2001, CIRCULATION, V103, P1198

[5] Large-scale search of SNPs for type 2 DM susceptibility genes in a Japanese population [J].

Daimon, M ;

Ji, GJ ;

Saitoh, T ;

Oizumi, T ;

Tominaga, M ;

Nakamura, T ;

Ishii, K ;

Matsuura, T ;

Inageda, K ;

Matsumine, H ;

Kido, T ;

Htay, L ;

Kamatani, N ;

Muramatsu, M ;

Kato, T .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2003, 302 (04) :751-758

[6]

DREXLER AJ, 2003, POSTGRAD MED, P15

[7] SNP analysis system for detecting complex disease associated sites [J].

Higashi, Y ;

Higuchi, H ;

Kido, T ;

Matsumine, H ;

Baba, M ;

Morimoto, T ;

Muramatsu, M .

PROCEEDINGS OF THE 2003 IEEE BIOINFORMATICS CONFERENCE, 2003, :450-451

[8] Novel polypyrimidine variation (IVS46: del T-39...-46) in ABCA1 causes exon skipping and contributes to HDL cholesterol deficiency in a family with premature coronary disease [J].

Hong, SH ;

Rhyne, J ;

Miller, M .

CIRCULATION RESEARCH, 2003, 93 (10) :1006-1012

[9] ISOLATED LOW HDL CHOLESTEROL - AN INSULIN-RESISTANT STATE [J].

KARHAPAA, P ;

MALKKI, M ;

LAAKSO, M .

DIABETES, 1994, 43 (03) :411-417

[10] Haplotype pattern mining & classification for detecting disease associated site [J].

Kido, T ;

Baba, M ;

Matsumine, H ;

Higashi, Y ;

Higuchi, H ;

Muramatsu, M .

PROCEEDINGS OF THE 2003 IEEE BIOINFORMATICS CONFERENCE, 2003, :452-453

← 1 2 3 4 →