Genome-wide scan of Graves' disease: Evidence for linkage on chromosome 5q31 in Chinese Han pedigrees

Ying Jin, Weiping Teng, Songtao Ben, Xiaoyan Xiong, Jing Zhang, Shijie Xu, Yin Yao Shugart, Li Jin, Jialun Chen, Wei Huang

Research output: Contribution to journalArticlepeer-review

Abstract

Graves' disease (GD), which is a common organ-specific autoimmune disorder, is multifactorial and develops in genetically susceptible individuals. Despite many studies of candidate genes, only associations with human leukocyte antigen and cytotoxic T lymphocyte antigen 4 have been generally detected, and the number of susceptibility genes remains unknown. To identify chromosomal regions contributing to GD, we conducted a genome-wide scan on 322 individuals from 54 Chinese Han multiplex GD pedigrees. Parametric linkage analysis revealed the strongest evidence for linkage at D5S436 on chromosome 5q31, with a maximum two-point LOD score of 2.8 and a maximum multipoint LOD score of 2.3. To further assess the significance of this suggestive finding, we typed four additional markers around D5S436 in this chromosome region, and a maximum two-point LOD score of 4.31 and a maximum multipoint LOD score of 4.12 were obtained for marker D5S2090 (with heterogeneity, α̂ = 0.38). Nonparametric multipoint analysis also showed significant excess allele sharing, with a P value as low as 0.001, at the same locus. Our findings provide evidence for a susceptibility locus for GD on chromosome 5q31 and support the existence of genetic heterogeneity in GD.

Original languageEnglish (US)
Pages (from-to)1798-1803
Number of pages6
JournalJournal of Clinical Endocrinology and Metabolism
Volume88
Issue number4
DOIs
StatePublished - Apr 1 2003

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology, Diabetes and Metabolism

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