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Gene Variation Linked to Greater Risk of Scleroderma

Patients more likely to carry polymorphism in connective-tissue growth factor gene

THURSDAY, Sept. 20 (HealthDay News) -- The G-945C polymorphism in the connective-tissue growth factor gene is strongly associated with systemic sclerosis, making it a candidate gene for scleroderma, according to study findings published in the Sept. 20 issue of the New England Journal of Medicine.

Carmen Fonseca, M.D., of the Royal Free and University College Medical School in London, U.K., and colleagues genotyped the G-945C polymorphism in two groups, the first consisting of 200 systemic sclerosis patients and 188 controls, the second consisting of 300 systemic sclerosis patients and 312 controls.

In both groups, the researchers found that patients were significantly more likely than controls to have the GG genotype (odds ratio, 2.2). They also found a significant association between homozygosity for the G allele and the presence of both anti-topoisomerase I antibodies and fibrosing alveolitis (odds ratios, 3.3 and 3.1, respectively).

"These data provide new insight into the pathogenesis of systemic sclerosis, including clues to the mechanisms leading to specific disease subtypes," the authors conclude. "Moreover, they may also be relevant to mechanisms underlying a wide range of other human disorders with a fibrotic component."

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