RESEARCH - Autoimmune disease aggregation in families with primary Sjögren's syndrome

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Journal of Rheumatology

November 2006

Autoimmune Disease Aggregation in Families with Primary Sjögren's Syndrome

JUAN-MANUEL ANAYA, GABRIEL J. TOBON, PATRICIA VEGA, and JOHN CASTIBLANCO

ABSTRACT.

Objective. Diverse autoimmune diseases may coexist in the same individual

and in families, implying a common etiology. We examined the aggregation of

autoimmune diseases among first-degree relatives (FDR) of patients with

primary Sjögren's syndrome (pSS).

Methods. This was a population-based case-control family study in which 101

families of women classified as having pSS according to the revised

American-European criteria and 124 families of matched controls without

autoimmune disease were enrolled to investigate the presence of autoimmune

diseases. We performed a genetic analysis that included familial correlation

and recurrent risk ratios.

Results. In family cases, 38% had at least one FDR with an autoimmune

disease, versus 22% in control families [odds ratio (OR) 2.2, 95% confidence

interval (CI) 1.2-3.9, p = 0.01]. An autoimmune disease was registered for

7.3% of 876 patients' FDR as compared with 3.85% of 857 controls' FDR (OR

1.97, 95% CI 1.28-3.03, p = 0.002). The most frequent autoimmune diseases

registered among the pSS patients' FDR were autoimmune thyroid disease

(AITD), systemic lupus erythematosus, and rheumatoid arthritis, which

disclosed aggregation. The proband phenotype (i.e., pSS) was correlated with

AITD, systemic sclerosis, and all autoimmune diseases when considered

together as a trait. Maternal transmission of the autoimmunity trait was

observed in cases but not in controls.

Conclusion. Our results indicate that autoimmune diseases cluster within

families of patients with pSS. This familial aggregation of autoimmune

diseases adds further evidence that clinically different autoimmune

phenotypes might share common susceptibility gene variants, which acting in

epistatic pleitropy may represent risk factors for autoimmunity. (J

Rheumatol 2006;33:2227-34)

http://www.jrheum.com/abstracts/abstracts06/2227.html

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