Race and Ethnicity
Genetics of systemic sclerosis: recent advances. Systemic sclerosis (SSc) is associated with a strong sex bias of between four and nine affected women for one man. African Americans are more likely to develop it than Caucasians, and experience greater morbidity, reduced survival, earlier age of onset, and worse pulmonary disease. The cause of SSc and the reasons for the ethnic disparities remain elusive. Current Opinion in Rheumatology, November 2015, Volume 27, Issue 6, p 521-529.
Early mortality in a multinational systemic sclerosis (SSc) inception cohort. Early mortality in SSc is substantial and prevalent cohorts underestimate mortality in SSc by failing to capture early deaths, particularly in men and those with diffuse disease. PubMed, Arthritis Rheumatol, 12/28/2016. (Also see Prognosis and Mortality)
Caveolin-1 deficiency predisposes African-Americans to systemic sclerosis-interstitial lung disease (SSc-ILD). African-Americans may be predisposed to SSc-ILD due to low baseline caveolin-1 levels in their monocytes. PubMed, Arthritis Rheumatol, 02/27/2014.
Major Histocompatibility Complex (MHC) class II alleles, haplotypes, and epitopes which confer susceptibility or protection in the fibrosing autoimmune disease systemic sclerosis (SSc): analyses in 1300 Caucasian, African-American and Hispanic cases and 1000 controls. These data indicate unique and multiple HLA class II effects in SSc, especially on autoantibody markers of different sub-phenotypes. Ann Rheum Dis.
Systemic sclerosis in Sarawak: a profile of patients treated in the Sarawak General Hospital. This study demonstrates the rarity of systemic sclerosis in a multi-ethnic groups, predominantly Chinese, Sarawak natives and Malays with considerable lag time to diagnosis. Diffuse cutaneous systemic scleroderma was more common with rare pulmonary hypertension and renal involvement.The Rheumatology International.
Genes and antibodies for scleroderma and its various symptoms can vary by geographic regions throughout the world. For example, Chinese systemic scleroderma patients typically have milder disease overall, but are more likely to have myositis (muscle inflammation) and certain autoantibodies than other ethnicities.
Lung and gastrointestinal complications are leading causes of death in SCORE, a multi-ethnic Singapore systemic sclerosis cohort. Pulmonary Arterial Hypertension, Interstitial Lung Disease and Gastrointestinal complications were leading causes of death in this cohort. We identified a high-risk group of patients who would benefit from closer monitoring and early intervention. PubMed, Scand J Rheumatol, 2016 Nov;45(6):499-506.
Single–specificity anti-Ku antibodies in an international cohort of 2140 systemic sclerosis (SSc) subjects: clinical associations. This is the largest cohort to date focusing on the prevalence and disease characteristics of single–specificity anti-Ku antibodies in subjects with SSc. PubMed, Medicine (Baltimore). 2016 Aug;95(35):e4713. (Also see Antibodies)
Survival and causes of death in systemic sclerosis (SSc) patients: a single center registry report from Iran. In this first Middle Eastern series of SSc registry, pulmonary and cardiac involvements were the leading cause of SSc–related death. PubMed, Rheumatol Int, 2016 Jul;36(7):925-34.
Genetic susceptibility loci of idiopathic interstitial pneumonia (IIP) do not represent risk for systemic sclerosis (SSc): a case control study in Caucasian patients. Our results add new evidence that SSc and SSc-related interstitial lung disease are genetically distinct from IIP, although they share phenotypic similarities. PubMed, Arthritis Res Ther, 2016 Jan 20;18:20.
Clinical and autoantibody profile in systemic sclerosis (SSC): baseline characteristics from a West Malaysian cohort. In Malaysia, SSc most commonly affects the Chinese and limited cutaneous is more common than diffuse subtype. PubMed, Int J Rheum Dis, 2015 May;18(4):459-65.
Anti-PM/Scl antibodies are found in Japanese patients with various systemic autoimmune conditions besides myositis and scleroderma (SSc). In Japanese patients, anti-PM/Scl antibodies are only very rarely found, and they are not always specific for dermatomyositis (DM) or SSc; they are also present in various autoimmune conditions PubMed, Arthritis Res Ther, 2015 Mar 11;17:57. (Also see Antibodies)
Prevalence of anti-RNA polymerase III antibodies in systemic sclerosis: New data from a French cohort and a systematic review and meta-analysis. Geographic factors were significantly associated with prevalence, which underscores the probable implication that genetic background and environmental factors play a role. PubMed, Arthritis Rheumatol, 2014 Feb;66(2):407-17. (Also see Antibodies)
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