葛瑞夫茲氏病基因研究-以家族為基礎之關聯研究（3/3）
Date Issued
2005
Date
2005
Author(s)
張天鈞
DOI
933112B002015
Abstract
Context: Graves’ disease (GD) is a common autoimmune thyroid disorder inherited as a
complex trait with strong genetic predisposition. The human leukocyte antigen (HLA) region
was once reported to be linked to GD in Caucasians but has never been replicated despite
multiple linkage studies in various ethnic backgrounds.
Objective: As a candidate region approach, we tested if the HLA region, and four other
candidate regions, is linked to GD in the Chinese Han population.
Design: This is a family-based non-parametric linkage analysis, using 8 short tandem repeat
polymorphism (STRP) markers covering the HLA region on chromosome 6p21, and other 26
STRPs in four other candidate regions.
Setting: A medical center and its affiliated outpatient clinics.
Patients or Other Participants: There were 604 individuals from 127 Chinese Han complex
pedigrees in Taiwan, including 357 affected patients (288 females, 69 males) and their 247
unaffected relatives (122 females, 125 males), which could be analyzed as 199 affected
sib-pairs.
Intervention(s): No.
Main Outcome Measure(s): Increased allele sharing among affected individuals in the same
family.
Results: Multipoint non-parametric linkage (NPL) score analysis showed significant linkage
to the HLA region, which peaked at the marker UniSTS:239159 (NPL score 3.98, P = .00004)
with the 1-LOD support interval covering the ~4 Mb HLA region.
Conclusions: Our result is the first replication of linkage of GD to the HLA region. Taken
together with the finding in the Caucasian population, it suggests that the HLA region harbors
a susceptibility gene(s) for GD in multiple ethnic groups.
Subjects
Graves’ disease
linkage study
HLA
SDGs
Publisher
臺北市：國立臺灣大學醫學院內科
Type
report
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