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Risk score · Immune & inflammatory
Systemic Sclerosis Polygenic Risk Score
Systemic sclerosis, also called scleroderma, is a rare autoimmune disease that causes scarring and hardening of the skin and can affect internal organs. It is much more common in women.
A risk score adds up many common variants, each with a small effect, into an estimate of genetic predisposition. It is not a diagnosis.
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Limitations
- A polygenic score does not include sex hormones, which are thought to shape how the disease differs between women and men.
References
- Pătrîntașu DE, Sárközi HK, Lupușor E, Vlangăr IE, Rotariu GM, Rența IA et al., 2023. A Multidisciplinary Approach as a Goal for the Management of Complications in Systemic Scleroderma: A Literature Review and Case Scenario
- Zhong L, Pope M, Shen Y, Hernandez JJ, Wu L, 2019. Prevalence and incidence of systemic sclerosis: A systematic review and meta-analysis
- Toitou M, Iacovantuono M, Sauer G, Mihai C, Chimenti MS, Distler O et al., 2025. Sex differences in systemic sclerosis: from pathogenesis to clinical manifestations and treatment
Other immune & inflammatory risk scores
- Allergies
- Ankylosing Spondylitis
- Endometriosis
- Hypothyroidism (Underactive Thyroid)
- Psoriasis
- Systemic lupus erythematosus (Lupus)
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