A novel susceptibility locus for moyamoya disease on chromosome 8q23
- 133 Downloads
Moyamoya disease (MIM 252350) is characterized by stenosis or occlusion of the terminal portions of the bilateral internal carotid arteries and by abnormal vascular networks at the base of the brain. There is a high incidence of moyamoya disease in Asia, especially in Japan. Multifactorial inheritance is estimated with λs>40. Previous linkage studies have indicated that susceptibility loci for the disease are located on chromosomes 3p, 6q, and 17q. In the present study, we searched for loci linked to the disease in 12 Japanese families using 428 microsatellite markers and found significant evidence for linkage to 8q23 [maximum LOD score (MLS) of 3.6] and suggestive evidence for linkage to 12p12 (MLS=2.3). The present study revealed a novel locus for moyamoya disease.
KeywordsMoyamoya disease Linkage Carotid arteries Chromosome 8 Affected sib pairs
This work was supported by a grant from the Research Committee on Spontaneous Occlusion of the Circle of Willis sponsored by the Ministry of Health, Labor and Welfare of Japan.
- Fukui M, Kono S, Sueishi K, Ikezaki K (2000) Moyamoya disease. Neuropathology 20 [Suppl]:S61–S64Google Scholar
- Goto Y, Yonekawa Y (1992) Worldwide distribution of moyamoya disease. Neurol Med Chir (Tokyo) 32:883–886Google Scholar
- Ikezaki K, Loftus CM (2001) Moyamoya disease. The American Association of Neurological Surgeons, Rolling MeadowsGoogle Scholar
- Inoue TK, Ikezaki K, Sasazuki T, Matsushima T, Fukui M (2000) Linkage analysis of moyamoya disease on chromosome 6. J Child Neurol 15:179–182Google Scholar
- Osawa M, Kanai N, Kawai M, Fukuyama Y (1992) Clinical genetic study on the idiopathic occlusion of the circle of Willis. In: The Research Committee on Spontaneous Occlusion of the Circle of Willis (moyamoya disease) of the Ministry of Health and Welfare Japan: Annual Report Tokyo. Japan: Ministry of Health and Welfare Japan, pp 147–152Google Scholar
- Wakai K, Tamakoshi A, Ikezaki K, Fukui M, Kawamura T, Aoki R, Kojima M, Lin Y, Ohno Y (1997) Epidemiological features of moyamoya disease in Japan: findings from a nationwide survey. Clin Neurol Neurosurg 99 [Suppl 2]:S1–S5Google Scholar
- Yamauchi T, Houkin K, Tada M, Abe H (1997) Familial occurrence of moyamoya disease. Clin Neurol Neurosurg 99 [Suppl 2]:S162–S167Google Scholar