Multiple SNPs in intron 41 of thyroglobulin gene are associated with autoimmune thyroid disease in the Japanese population

The etiology of the autoimmune thyroid diseases (AITDs), Graves' disease (GD) and Hashimoto's thyroiditis (HT), is largely unknown. However, genetic susceptibility is believed to play a major role. Two whole genome scans from Japan and from the US identified a locus on chromosome 8q24 that...

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Bibliographic Details
Published in:PloS one 2012-05, Vol.7 (5), p.e37501-e37501
Main Authors: Ban, Yoshiyuki, Tozaki, Teruaki, Taniyama, Matsuo, Skrabanek, Luce, Nakano, Yasuko, Ban, Yoshio, Hirano, Tsutomu
Format: Article
Language:English
Subjects:
Analysis
Asian Continental Ancestry Group - genetics
Bans
Biology
Blood groups
Case-Control Studies
Chromosome 8
Development and progression
Diabetes
Disease susceptibility
Endocrinology
Epigenetics
Etiology
Gene Frequency
Gene polymorphism
Genes
Genetic aspects
Genetic Predisposition to Disease
Genomes
Genomics
Graves Disease - genetics
Graves' disease
Haplotypes
Hashimoto Disease - genetics
Hashimoto's thyroiditis
Hormone replacement therapy
Hospitals
Humans
Hyperthyroidism
Hypothyroidism
Immunoglobulins
Internal medicine
Introns
Iodine
Japan
Medicine
Metabolism
Patients
Pharmacy
Polymorphism
Polymorphism, Single Nucleotide
Single nucleotide polymorphisms
Single-nucleotide polymorphism
Studies
Thyroglobulin
Thyroglobulin - genetics
Thyroid
Thyroid diseases
Thyroiditis
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Summary:The etiology of the autoimmune thyroid diseases (AITDs), Graves' disease (GD) and Hashimoto's thyroiditis (HT), is largely unknown. However, genetic susceptibility is believed to play a major role. Two whole genome scans from Japan and from the US identified a locus on chromosome 8q24 that showed evidence for linkage with AITD and HT. Recent studies have demonstrated an association between thyroglobulin (Tg) polymorphisms and AITD in Caucasians, suggesting that Tg is a susceptibility gene on 8q24. The objective of the study was to refine Tg association with AITD, by analyzing a panel of 25 SNPs across an extended 260 kb region of the Tg. We studied 458 Japanese AITD patients (287 GD and 171 HT patients) and 221 matched Japanese control subjects in association studies. Case-control association studies were performed using 25 Tg single nucleotide polymorphisms (SNPs) chosen from a database of the Single Nucleotide Polymorphism Database (dbSNP). Haplotype analysis was undertaken using the computer program SNPAlyze version 7.0. In total, 5 SNPs revealed association with GD (P
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0037501