Linkage studies of hla and primary sjögren's syndrome in multicase families

Objective. To define the role of HLA–DR pheno‐type in the expression of primary Sjögren's syndrome (SS). Methods. A family study of Caucasian probands with definite primary SS was conducted. Relatives with features of primary SS were classified according to the Fox criteria. Several types of li...

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Bibliographic Details
Published in:Arthritis and rheumatism 1993-04, Vol.36 (4), p.473-484
Main Authors: Mrcp, Helen Foster, Stephenson, Anthea, Walker, David, Cavanagh, Gary, Kelly, Clive, Griffiths, Ian
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Alleles
Biological and medical sciences
Child
Child, Preschool
Disease Susceptibility
Family Health
Female
Genetic Linkage
Haplotypes
HLA Antigens - genetics
Humans
Infant
Infant, Newborn
Male
Medical sciences
Middle Aged
Pedigree
Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
Sibling Relations
Sjogren's Syndrome - genetics
Thyroid Diseases - genetics
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Summary:Objective. To define the role of HLA–DR pheno‐type in the expression of primary Sjögren's syndrome (SS). Methods. A family study of Caucasian probands with definite primary SS was conducted. Relatives with features of primary SS were classified according to the Fox criteria. Several types of linkage analysis between primary SS and HLA haplotype (HLA–A, B, and DR) were performed. Results. A trend toward haplotype sharing between affected siblings was evident for definite/probable primary SS when analyzed by the Green and Woodrow method. This reached statistical significance when data from other published family studies were included. LOD scores and analyses using the Penrose method showed little evidence of linkage. Conclusion. In view of the strong association with HLA‐DR3, these results suggest that the HLA‐DR3 allele is an important susceptibility factor for expression of primary SS in Caucasians. The apparent haplotype sharing may be a consequence of this association. The potential influence of other genetic factors (major histocompatibility complex [MHC] and non‐MHC) is discussed.
ISSN:0004-3591
1529-0131
DOI:10.1002/art.1780360407