Identification of susceptibility loci for autoimmune thyroid disease to 5q31-q33 and Hashimoto's thyroiditis to 8q23-q24 by multipoint affected sib-pair linkage analysis in Japanese

Kenji Sakai, Senji Shirasawa, Naofumi Ishikawa, Kunihiko Ito, Hajime Tamai, Kanji Kuma, Takashi Akamizu, Masako Tanimura, Koichi Furugaki, Ken Yamamoto, Takehiko Sasazuki

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Abstract

Autoimmune thyroid disease (AITD), including Graves' disease (GD) and Hashimoto's thyroiditis (HT), is caused by multiple genetic and environmental factors. The clinical and immunological features of GD and HT are distinct; however, there are multiplex families with both GD and HT, and cases in which GD evolves into HT. Thus, there may be specific susceptibility loci for GD or HT, and common loci controlling the susceptibility to both GD and HT may exist. A genome-wide analysis of data on 123 Japanese sib-pairs affected with AITD was made in which GD- or HT-affected sib-pairs (ASPs) were studied to detect GD- or HT-specific susceptibility loci, and all AITD-ASPs were used to detect AITD-common susceptibility loci. Our study revealed 19 regions on 14 chromosomes (1, 2, 3, 5, 6, 8, 9, 10, 11, 12, 13, 15, 18 and 22) where the multipoint maximum LOD score (MLS) was >1. Especially, chromosome 5q31-q33 yielded suggestive evidence for linkage to AITD as a whole, with an MLS of 3.14 at D5S436, and chromosome 8q23-q24 yielded suggestive evidence for linkage to HT, with an MLS of 3.77 at D8S272. These observations suggest the presence of an AITD susceptibility locus at 5q31-q33 and a HT susceptibility locus at 8q23-q24.

Original languageEnglish
Pages (from-to)1379-1386
Number of pages8
JournalHuman Molecular Genetics
Volume10
Issue number13
Publication statusPublished - Jun 15 2001

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Hashimoto Disease
Thyroid Diseases
Autoimmune Diseases
Graves Disease
Disease Susceptibility
Chromosomes
Chromosomes, Human, Pair 2
Chromosomes, Human, Pair 1
Genome

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

Identification of susceptibility loci for autoimmune thyroid disease to 5q31-q33 and Hashimoto's thyroiditis to 8q23-q24 by multipoint affected sib-pair linkage analysis in Japanese. / Sakai, Kenji; Shirasawa, Senji; Ishikawa, Naofumi; Ito, Kunihiko; Tamai, Hajime; Kuma, Kanji; Akamizu, Takashi; Tanimura, Masako; Furugaki, Koichi; Yamamoto, Ken; Sasazuki, Takehiko.

In: Human Molecular Genetics, Vol. 10, No. 13, 15.06.2001, p. 1379-1386.

Research output: Contribution to journalArticle

Sakai, K, Shirasawa, S, Ishikawa, N, Ito, K, Tamai, H, Kuma, K, Akamizu, T, Tanimura, M, Furugaki, K, Yamamoto, K & Sasazuki, T 2001, 'Identification of susceptibility loci for autoimmune thyroid disease to 5q31-q33 and Hashimoto's thyroiditis to 8q23-q24 by multipoint affected sib-pair linkage analysis in Japanese', Human Molecular Genetics, vol. 10, no. 13, pp. 1379-1386.
Sakai, Kenji ; Shirasawa, Senji ; Ishikawa, Naofumi ; Ito, Kunihiko ; Tamai, Hajime ; Kuma, Kanji ; Akamizu, Takashi ; Tanimura, Masako ; Furugaki, Koichi ; Yamamoto, Ken ; Sasazuki, Takehiko. / Identification of susceptibility loci for autoimmune thyroid disease to 5q31-q33 and Hashimoto's thyroiditis to 8q23-q24 by multipoint affected sib-pair linkage analysis in Japanese. In: Human Molecular Genetics. 2001 ; Vol. 10, No. 13. pp. 1379-1386.
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