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Scleroderma Research Points at New Genetic Region

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Scleroderma related image Photo: Getty Images

Scleroderma is a chronic, non-communicable, auto-immune disease that affects among other things the skin of the affected person. It basically involves the hardening, tightening or thickening of the skin and may include vascular alterations. (Source: WebMD, WebMD Medical Reference provided in collaboration with the Cleveland Clinic; Article Title: Pain Management: Scleroderma; Reviewed by: Reviewed by the doctors at The Cleveland Clinic Department of Pulmonary, Allergy & Critical Care Medicine; URL: http://www.webmd.com/pain-management/scleroderma).

It is believed that scleroderma has a genetic inheritance element as its chief cause. The hardening of skin and connective tissues can be localized to the skin only and is known as localized scleroderma, or it may affect the internal organs, blood vessels and systems of the body when it is known as systemic scleroderma.

Recent research supported and published in January 2011 by the National Institute of Arthritis and Musculoskeletal and Skin Disease, NIAMS (Page Title: Spotlight on Research 2011; Article Tilte: Scientists Identify New Genetic Region Associated with Scleroderma; URL: http://www.niams.nih.gov/News_and_Events/Spotlight_on_Research/2011/scleroderma_gene_region.asp) reported the identification of a new genetic region responsible of the onset of systemic scleroderma. This study was also supported in part by the National Institutes of Health’s (U.S. Department of Health and Human Services) National Center for Research Resources and the National Institute of Mental Health (NIMH).

The study implemented the technique popularly known in scientific circles as the "genome-wide association" in which genes of a large number of affected persons are compared with a large number of persons not suffering from the condition. This technique helped the scientists identify a particular region of the genome (named CD247) which was earlier not thought of as associated with the development of systemic sceleroderma. Another study was carried out including populations from the U.S. and Europe which also pointed out the same area of the genome.

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