Genetics of systemic sclerosis

Abstract

Systemic sclerosis (SSc) is connective tissue disorder in which fibrosis of the skin and internal organs is the main hallmark. Despite the difficulties of studying a complex disease, significant advances have been achieved in the SSc genetics field. In this review, we will describe the firmest genetic susceptibility markers known to date. We will analyze the most recent findings in the HLA region and in non-HLA genes. Furthermore, we will propose functional connections of these loci with the mechanisms involved in SSc pathogenesis. However, only non-HLA genetic regions that have been associated with SSc at the genome-wide significance level or that have been reported to be associated with the disease in at least two different independent studies will be considered. In spite of the increasing number of SSc genetic susceptibility factors identified, further studies with larger sample sizes, deeper phenotype characterization of the patients and innovative analyses will be needed to translate SSc genetics into clinical practice and patient care in the future.

Increased risk of comorbid rheumatic disorders in vitiligo patients: A nationwide population‐based study

“…Previous genetic analyses seeking to elucidate the pathogenesis of vitiligo identified some relevant genes, including those encoding major histocompatibility complex, PTPN22, CCR6, NLRP and interleukin‐2R . These genes were also reported to be associated with rheumatic disorders such as systemic lupus erythematosus, rheumatoid arthritis and systemic sclerosis . Genetic susceptibility to abnormal regulation in innate or adaptive immunity can be shared with other autoimmune disorders.…”

“…1,[13][14][15] These genes were also reported to be associated with rheumatic disorders such as systemic lupus erythematosus, rheumatoid arthritis and systemic sclerosis. 1,[13][14][15][16][17][18] Genetic susceptibility to abnormal regulation in innate or adaptive immunity can be shared with other autoimmune disorders. Vitiligo patients who are genetically susceptible to abnormal immune regulation can, therefore, exhibit other rheumatic disorders, while the prevalence of such rheumatic disorders can be increased.…”

Erstkontakt und strategisches Vorgehen bei Patienten mit seltener Erkrankung

“…Für die systemische Sklerodermie (SSc) wird die geschätzte Prävalenz mit 1/10 000 angegeben [16]. Sie gehört zu einem Komplex von entzündlichen und fibrosierenden Erkrankungen, den sog.…”

An MIF Promoter Polymorphism Is Associated with Susceptibility to Pulmonary Arterial Hypertension in Diffuse Cutaneous Systemic Sclerosis

“…During the last years, great advances have been made in the determination of the genetic component of SSc [3,4]. Nevertheless, we are still far from its complete understanding, especially with regard to pulmonary involvement, in which only few associated genes have been described [3,4].…”

“…Nevertheless, we are still far from its complete understanding, especially with regard to pulmonary involvement, in which only few associated genes have been described [3,4].…”