Evidence for a new Graves disease susceptibility locus at chromosome 18q21

被引：51

作者：

Vaidya, B

Imrie, H

Perros, P

Young, ET

Kelly, WF

Carr, D

Large, DM

Toft, AD

Kendall-Taylor, P

Pearce, SHS

机构：

[1] Univ Newcastle Upon Tyne, Sch Clin Med Sci, Dept Endocrinol, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

[2] Freeman Rd Hosp, Dept Med, Newcastle Upon Tyne NE7 7DN, Tyne & Wear, England

[3] Wansbeck Gen Hosp, Dept Med, Ashington, Northumbria, England

[4] Middlesbrough Gen Hosp, Diabet Care Ctr, Middlesbrough TS5 5AZ, Cleveland, England

[5] N Tees Gen Hosp, Dept Med, Stockton On Tees, England

[6] Cumberland Infirm, Dept Med, Carlisle, England

[7] Royal Infirm, Endocrine Unit, Edinburgh, Midlothian, Scotland

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2000年 / 66卷 / 05期

基金：

英国惠康基金;

关键词：

D O I：

10.1086/302908

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Graves disease (GD) is a common autoimmune thyroid disorder that is inherited as a complex multigenic trait. By using a single microsatellite marker at each locus, we screened the type 1 diabetes loci IDDM4 IDDM5, IDDM6, IDDM8, and IDDM10 and the fucosyltransferase-2 locus for linkage in sib pairs with GD. This showed a two-point nonparametric linkage (NPL) score of 1.57 (P = .06) at the IDDM6 marker D18S41, but NPL scores were <1.0 at the other five loci. Thus, the investigation of the IDDM6 locus was extended by genotyping 11 microsatellite markers spanning 48 cM across chromosome 18q12-q22 in 81 sib pairs affected with autoimmune thyroid disease (AITD). Multipoint analysis, designating all AITD sib pairs as affected, showed a peak NPL score of 3.46 (P = .0003), at the marker D18S487. Designation of only GD cases as affected (74 sib pairs) showed a peak NPL score of 3.09 (P = .001). Linkage to this region has been demonstrated in type 1 diabetes (IDDM6), rheumatoid arthritis, and systemic lupus erythematosus, which suggests that this locus may have a role in several forms of autoimmunity.

引用

页码：1710 / 1714

页数：5

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