RESEARCH - Mode of inheritance of HLA-DRB1 shared epitope in Japanese familial RA

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Clin Exp Rheumatol. 2002 May-Jun;20(3):395-8.

Mode of inheritance of HLA-DRB1 shared epitope in Japanese familial

rheumatoid arthritis.

Dept. of Internal Medicine, Faculty of Medicine, University of Tokyo, Japan.

fujio-tky@...

OBJECTIVE: To clarify the mode of genetic contribution of the HLA-DR shared

epitope (SE) to the pathogenesis of familial cases of Japanese rheumatoid

arthritis (RA). METHODS: Fifty-three unrelated Japanese RA families that had

more than 2 affected sibs were selected. The HLA-DR shared epitope typing

was carried out by the PCR method and PCR-SSCP (single stranded DNA

conformation polymorphism) method. Affected sib pair analysis was carried

out using the MAPMAKER/SIB 2.0 program. The mode of inheritance was also

calculated based on the sharing of genes identical by descent (IBD) between

siblings in each of the 53 affected sib-pairs (propositus and the 2nd

affected sib). RESULTS: The maximum LOD score of HLA-DR was 0.437, and the

sharing of 2 IBDs, 1 IBD, and no IBDs between affected sibs were 0.330,

0.500, and 0.170, respectively. The sharing distribution of IBD was

confirmed to be compatible with the dominant or additive mode since the

observed gene frequency of SE was 0.255.

CONCLUSION: The HLA-DR shared epitope participated in the pathogenesis of

familial cases of Japanese RA. The SE contributes to this pathogenesis in

either the dominant or additive mode of inheritance.

PMID: 12102478

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