Immunomodulatory germline variation associated with the development of multiple primary melanoma (MPM)
| العنوان: | Immunomodulatory germline variation associated with the development of multiple primary melanoma (MPM) |
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| المؤلفون: | Rebecca Lax, Garrett Yoon, Leah Morales, Anna C. Pavlick, Tomas Kirchhoff, Iman Osman, Vylyny Chat, Robert Ferguson, Danny Simpson, Alexi N. Archambault, Richard L. Shapiro, Esther Kazlow, David Polsky, Una Moran |
| المصدر: | Scientific Reports Scientific Reports, Vol 9, Iss 1, Pp 1-8 (2019) |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | 0301 basic medicine, Oncology, Host immunity, Adult, Male, medicine.medical_specialty, Skin Neoplasms, lcsh:Medicine, Germline, Article, Immunomodulation, Neoplasms, Multiple Primary, 03 medical and health sciences, 0302 clinical medicine, Immune system, Risk Factors, Internal medicine, Genetic variation, medicine, Humans, lcsh:Science, Genotyping, Gene, Melanoma, Cancer genetics, Germ-Line Mutation, Aged, Aged, 80 and over, Multidisciplinary, business.industry, lcsh:R, Genetic variants, Middle Aged, medicine.disease, 3. Good health, 030104 developmental biology, Germ Cells, Disease Progression, lcsh:Q, Female, business, 030217 neurology & neurosurgery |
| الوصف: | Multiple primary melanoma (MPM) has been associated with a higher 10-year mortality risk compared to patients with single primary melanoma (SPM). Given that 3–8% of patients with SPM develop additional primary melanomas, new markers predictive of MPM risk are needed. Based on the evidence that the immune system may regulate melanoma progression, we explored whether germline genetic variants controlling the expression of 41 immunomodulatory genes modulate the risk of MPM compared to patients with SPM or healthy controls. By genotyping these 41 variants in 977 melanoma patients, we found that rs2071304, linked to the expression of SPI1, was strongly associated with MPM risk reduction (OR = 0.60; 95% CI = 0.45–0.81; p = 0.0007) when compared to patients with SPM. Furthermore, we showed that rs6695772, a variant affecting expression of BATF3, is also associated with MPM-specific survival (HR = 3.42; 95% CI = 1.57–7.42; p = 0.0019). These findings provide evidence that the genetic variation in immunomodulatory pathways may contribute to the development of secondary primary melanomas and also associates with MPM survival. The study suggests that inherited host immunity may play an important role in MPM development. |
| تدمد: | 2045-2322 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dcf50cacd3f84aa680587db7e8c5080Test https://pubmed.ncbi.nlm.nih.gov/31308438Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....0dcf50cacd3f84aa680587db7e8c5080 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20452322 |
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