A genome scan in 260 inflammatory bowel disease-affected relative pairs

被引:47
作者
Barmada, MM
Brant, SR
Nicolae, DL
Achkar, JP
Panhuysen, CI
Bayless, TM
Cho, JH
Duerr, RH
机构
[1] Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15261 USA
[2] Johns Hopkins Univ, Sch Med, Dept Med, Baltimore, MD 21205 USA
[3] Johns Hopkins Univ, Bloomberg Sch Publ Hlth, Dept Epidemiol, Baltimore, MD USA
[4] Univ Chicago, Dept Stat, Chicago, IL 60637 USA
[5] Cleveland Clin Fdn, Dept Gastroenterol, Cleveland, OH 44195 USA
[6] Boston Univ, Sch Med, Dept Med, Boston, MA 02118 USA
[7] Univ Chicago, Dept Med, Chicago, IL 60637 USA
[8] Univ Pittsburgh, Sch Med, Dept Med, Pittsburgh, PA USA
关键词
chromosome mapping; colitis; ulcerative/genetics; Crohn's disease/genetics; genetic predisposition to disease; genotype; human; inflammatory bowel diseases/genetics; linkage (genetics); major histocompatibility complex;
D O I
10.1097/00054725-200409000-00004
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
We report genome-wide linkage results using model-free linkage analysis (Allegro) of 358 autosomal microsatellites in 260 new inflammatory bowel disease-affected relative pairs from 139 Caucasian families, including 108 Crohn's disease-affected relative pairs and 72 ulcerative colitis-affected relative pairs. Our results provide confirmatory evidence for linkage between the IBD2 locus and the inflammatory bowel disease phenotype (lod = 2.12 at GATA91H06) and ulcerative colitis phenotype (lod 1.44 at GATA91H06), but not the Crohn's disease phenotype. We also find confirmatory evidence for linkage between the IBD3 locus and Crohn's disease (lod = 2.26 at D6S2439) but not ulcerative colitis or inflammatory bowel disease. We find nominal evidence for linkage of inflammatory bowel disease to loci on chromosome 6q (lod = 2.21 between D6S2436/D6S305), 8q (lod = 1.57 between D8S1113/D8S1136), 15q (lod = 2.02 between D15S652/D15S816), and 22 (lod = 1.50 at D22S689); of Crohn's disease to loci on chromosome 5q approximately 50 centiMorgans centromeric from IBD5 (Iod = 1.69 at D5S1501) and 15q (Iod = 1.82 at D15S652), and of ulcerative colitis to a locus on chromosome 2q (lod = 2.19 between D2S1776/D2S1391). The inflammatory bowel disease linkage peak on chromosome 6q is located in the same general region that showed nominal evidence for linkage to IBD in a Belgian genome scan, and the ulcerative colitis linkage peak on chromosome 2q is located in the same general region that showed nominal evidence for linkage to the inflammatory bowel disease, Crohn's disease, or ulcerative colitis phenotypes in four other European/North American genome scans.
引用
收藏
页码:513 / 520
页数:8
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