Human Molecular Genetics

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Human Molecular Genetics, 2001, Vol. 10, No. 13 1379-1386
© 2001 Oxford University Press

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^1,2, Senji Shirasawa^1,2, Naofumi Ishikawa³, Kunihiko Ito³, Hajime Tamai⁴, Kanji Kuma⁴, Takashi Akamizu⁵, Masako Tanimura⁶, Koichi Furugaki^1,2, Ken Yamamoto^1,2 and Takehiko Sasazuki^1,2,7,+

¹Department of Immunobiology and Neuroscience, Division of Immunogenetics, Medical Institute of Bioregulation, Kyushu University, Maidashi 3-1-1, Higashi-ku, Fukuoka 812-8582, Japan, ²Core Research for Evolutional Science and Technology, Japan Science and Technology Corporation, Japan, ³Ito Hospital, Tokyo 150-0001, Japan, ⁴Kuma Hospital, Kobe 650-0011, Japan, ⁵Department of Medicine and Clinical Science, Kyoto University Graduate School of Medicine, Kyoto 606-8507, Japan, ⁶Department of Child Ecology, National Children’s Medical Research Center, Tokyo 154-0004, Japan and ⁷Research Institute, International Medical Center of Japan, Tokyo 162-8655, Japan

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.

⁺ To whom correspondence should be addressed. Tel: +81 92 642 6828; Fax: +81 92 632 0150; Email: sasazuki@bioreg.kyushu-u.ac.jp

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