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Abstract
Background: Moyamoya disease (MMD) is an idiopathic steno-occlusive cerebrovascular disease that represents an important cause of stroke. However, etiology of the disease has remained largely unknown.
Methods: We previously showed that the inheritance pattern of MMD is autosomal dominant with incomplete penetrance. Here, we report the genome-wide parametric linkage analysis for MMD in 15 extended Japanese families. We conducted linkage analyses under two diagnostic classifications: narrow and broad. Affected member-only analysis was applied due to incomplete and age-dependent penetrance of the disease.
Results: Under both classifications, significant evidence of linkage was only observed on chromosome 17q25.3, with maximum multipoint logarithm of odds (lod) scores of 6.57 (under the narrow classification) and 8.07 (under the broad classification) at D17S704. Haplotype analysis revealed segregation of a disease haplotype in all families but one, and informative crossovers enabled mapping of the MMD locus to a 3.5-Mb region between D17S1806 and the telomere of 17q, encompassing 94 annotated genes.
Conclusions: Our data suggest that there is a major gene locus for autosomal dominant moyamoya disease on chromosome 17q25.3.
Glossary
- ACAs=
- anterior cerebral arteries;
- HLOD=
- heterogeneity-adjusted logarithm of odds;
- ICAs=
- internal carotid arteries;
- MCAs=
- middle cerebral arteries;
- MMD=
- moyamoya disease;
- MRA=
- MR angiography;
- NF1=
- neurofibromatosis type 1;
- NPL=
- nonparametric linkage;
- RCMJ=
- Research Committee on the Spontaneous Occlusion of the Circle of Willis of the Ministry of Health and Welfare, Japan;
- RFLP=
- restriction fragment length polymorphism;
- SNP=
- single nucleotide polymorphism.
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