This study found that among Indian rheumatoid arthritis patients, the MTHFR A1298C polymorphism was associated with varying responses to methotrexate, with 1298CC genotypes showing higher toxicity and poorer efficacy compared to 1298AA genotypes.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.
37 citations
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December 2021 in “Cells” This study found that dysregulation of systemic Th1, Th2, and Th17 cytokines is associated with alopecia areata, with specific cytokines linked to disease activity and treatment response.
11 citations
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July 2022 in “Frontiers in Immunology” This study identified four immune-related signaling molecules (LGR5, PTN, JAG1, and DKK1) associated with keloid, suggesting their potential role in its pathogenesis and as targets for new treatments.
April 2023 in “The Egyptian Journal of Hospital Medicine” This case control study investigated serum IL-17A levels in alopecia areata patients compared to healthy controls to explore its potential role in the disease's pathogenesis.
1 citations
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August 2023 in “Biomolecules” This study found that patients with alopecia areata and their healthy family members had elevated levels of Th1- and Th17-related cytokines, suggesting a genetic link in cytokine dysregulation.
26 citations
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August 2014 in “Genetic Testing and Molecular Biomarkers” This study suggests that the TNF-α system may contribute to hyperandrogenism, obesity, and insulin resistance in polycystic ovarian syndrome, independent of the C850T polymorphism.
March 2026 in “Journal of Clinical Oncology” In this study, pre-treatment with 5-α-reductase inhibitors (finasteride/dutasteride) in patients with metastatic renal cell carcinoma was associated with better immune checkpoint inhibitor effectiveness and improved progression-free and overall survival, without increasing severe side effects.
37 citations
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June 2004 in “Human molecular genetics online/Human molecular genetics” This study suggests that the HCR risk allele within the PSORS1 locus may contribute to psoriasis susceptibility by altering gene expression related to skin structure and differentiation, although these changes alone might not result in clinical symptoms.
23 citations
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December 2017 in “Scientific Reports” This study found that the ARL15 gene affects adipocyte differentiation and adiponectin secretion, and suggests that ARL15 haploinsufficiency may predispose individuals to lipodystrophy.
December 2025 in “AL-QADISIYAH MEDICAL JOURNAL” This study found that patients with alopecia areata had higher serum levels of interleukin-17 and interleukin-23 compared to healthy controls, suggesting these cytokines may play a role in the disease's pathophysiology.
6 citations
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August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This report identified three novel genetic mutations associated with congenital ichthyosis in Italian newborns and emphasized the importance of next-generation sequencing for personalized patient management.
53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified multiple mutations in the 5 alpha-reductase-2 gene among male pseudohermaphrodites in the Dominican Republic, suggesting they do not share a common ancestry.
December 2025 in “AL-QADISIYAH MEDICAL JOURNAL” The study conducted at Al-Diwaniya Teaching Hospital found that patients with alopecia areata exhibited significantly higher serum levels of interleukin-17 and interleukin-23 compared to healthy controls, suggesting these cytokines might play a role in the disease's pathophysiology.
23 citations
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January 2014 in “International Journal of Biological Sciences” This study found that African American men with prostate cancer have higher rates of somatic and germline androgen receptor mutations than Caucasian American men, which may contribute to ethnic differences in disease progression and outcomes.
11 citations
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September 2023 in “Nature Communications” In this study, researchers found that the cell surface protein Lrig1 plays a crucial role in regulating the suppressive function of regulatory T cells, suggesting it as a potential target for treating autoimmune diseases, as evidenced by experiments in mouse models.
In this study, researchers identified IL18R+ thymus-resident regulatory T cells in mice, demonstrating their unique molecular features and resistance to age- and stress-induced thymus involution, highlighting IL18 signaling's role in Treg migration and retention.
March 2026 in “European journal of ecology, biology and agriculture.” This study found significantly higher levels of Toll-Like Receptor 4, interferon gamma, and interleukin-17 in Iraqi patients with alopecia areata compared to controls, suggesting these immune markers play a crucial role in the disease's development and could be targets for future treatments.
16 citations
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September 2014 in “International Journal of Biological Markers” This study found that the less common CAG-rs4045402 and GGN-rs3138869 polymorphisms were more frequent in patients with post-finasteride syndrome and androgenetic alopecia, suggesting a genetic predisposition to AGA development.
59 citations
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September 2021 in “Journal of Allergy and Clinical Immunology” This study found IL-17/IL-36 signaling to be predominant in both endotypes of Netherton syndrome, with distinct molecular profiles between NS-ILC and NS-SE lesions, offering potential therapeutic targets.
1 citations
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October 2024 in “Canine Medicine and Genetics” This study suggests a potential genetic component in CFA among Ridgeback dogs, but MLPH genotyping did not identify the MLPH gene as a contributing factor.
50 citations
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December 2005 in “European Journal of Immunology” This study found that a specific mutation in the mouse RXRalpha gene significantly impacts immune responses and causes hair loss and skin cysts.
1 citations
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October 2024 in “QJM” This study compared the long-term efficacy and safety of biologics targeting TNF alpha and IL-12/23 in moderate to severe psoriasis, finding that IL-12/23 inhibitors were more effective at achieving a PASI 75 response, while both treatments showed a similar risk of serious infection and malignancy.
April 2012 in “Encyclopedia of Life Sciences” This review discusses recent genome-wide association studies identifying novel candidate genes for various forms of alopecia, providing insights into their pathogenesis and molecular mechanisms, but reports no new clinical results.
April 2019 in “Journal of Investigative Dermatology” This study found that blocking LFA-1 signaling completely prevented the development of alopecia areata in C3H/HeJ mice, suggesting that LFA-1 plays a crucial role in the disease's pathogenesis and could be a target for new therapies.
18 citations
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February 2023 in “eLife” This study indicates that innate lymphoid cells-type 1 may provoke alopecia areata by disrupting hair follicle immune privilege and inducing characteristic lesions, challenging the view that alopecia areata is purely an autoantigen-dependent, T cell-driven condition.
57 citations
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November 2006 in “International Journal of Cancer” This study found that the SRD5A2 A49T A variant is associated with an increased risk of prostate cancer, lower circulating 3α‐diolG levels, and a decreased risk of baldness.
3 citations
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October 2021 in “The Application of Clinical Genetics” This study found that certain genetic variations in the OPN gene may be linked to atopic dermatitis and a higher prevalence of asthma in Caucasians.
8 citations
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May 2005 in “Fertility and Sterility” In this study, women with the GG polymorphism of the MMP1 gene promoter were found to have a higher likelihood of being diagnosed with polycystic ovary syndrome.
January 1996 in “Studia iuridica” This study identified two novel point mutations in the hHb6 gene associated with monilethrix, suggesting these mutations could serve as diagnostic markers for this genetic hair disorder.