Research Article
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Year 2023, , 29 - 38, 31.08.2023
https://doi.org/10.55895/sshs.1335300

Abstract

Supporting Institution

Tokat Gaziosmanpaşa Üniversitesi Bilimsel Araştırma Projeleri Birimi

Project Number

2013/16

References

  • Alzolibani, A. A., (2011). Epidemiologic and genetic characteristics of alopecia areata, Acta Dermatoven APA, 20(4), 191-198.
  • Betz, R.C., Petukhova, L., Ripke, S., Huang, H., Menelaou, A., Redler, S. et al. (2015). Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci. Nat Commun, 6(1), 5966. https://doi.org/10.1038/ncomms6966
  • Budak Diler, S., (2017). Mesane Kanserli Hastalarda CTLA-4 Geni +49 A/G Polimorfizminin Araştırılması. Turkiye Klinikleri J Med Sci, 37(1):16-20.
  • John, K.K.G., Brockschmidt, F.F., Redler, S., Becker, T., Nöthen, M.M., & Betz, R.C. (2011). Genetic Variants in CTLA4 Are Strongly Associated with Alopecia Areata. Journal of Investigative Dermatology, 131(5), 1169-1172. https://doi.org/10.1038/jid.2010.427
  • Kırkık, D., Kalkanlı Taş, S., Çağıltay, E., Kalkanlı, N., (2020). Otoimmün tiroid hastalıklarında CTLA4 geninin in silico analizinin değerlendirilmesi. J. Medıcıne Pallıatıve Care; 1(3): 58-6.
  • Martınez-Mır, A., Zlotogorski, A., Gordon, D., Petukhova, L., Mo, J., Gilliam, T. C., Londono, D., Haynes, C., Ott, J., Hordinsky, M., Nanova, K., Norris, D., Price, V., Duvic, M., Christiano, A. M., (2007). Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata, The American Journal of Human Genetics, 80, 316-328.
  • Megiorni, F., Mora, B., Maxia, C., Gerardi, M. , Pizzuti, A. , Rossi, A. (2013). Cytotoxic Tlymphocyte antigen 4 (CTLA4) +49AG and CT60 gene polymorphisms in alopecia areata: a case–control association study in the Italian population. Arch Dermatol Res, 305, 665-670. https://doi.org/10.1007/s00403-013-1348-3
  • Moravvej, H., Tabatabaei-Panah, P.S., Abgoon, R., Khaksar, L., Sokhandan, M., Tarshaei, S., et al.(2018).Genetic variant association of PTPN22, CTLA4, IL2RA, as well as HLA frequencies in susceptibility to alopecia areata. Immunol Invest, 47,666-679. https://doi.org/10.1080/08820139.2018.1480032
  • Rajabi, F., Amoli, M. M., Robati, R. M., Nasrabadi, M. A., Jabalameli, N., (2019). Macrophage migration inhibitory factor polymorphism (rs755622) in alopecia areata: a possible role in disease prevention. Arch Dermatol Res, 311(8):589-594. https://doi.org/10.1007/s00403- 019-01934-9
  • Rajabi, F., Abdollahimajd, F., Navid Jabalameli, N., Kashani, M. N., Firooz, A., (2022). The Immunogenetics of Alopecia areata. Adv Exp Med Biol, 1367:1959. https://doi.org/10.1007/978-3-030-92616-8_2.
  • Rowshanravan, B., Halliday, N., & Sansom, D.M. (2018). CTLA-4: a moving target in immunotherapy. Blood, 131(1), 58-67. https://doi.org/10.1182/blood-2017-06-741033
  • Salinas-Santander, M.A., Cantu-Salinas, C.S., Ocampo-Candiani, J., Suarez-Valencia, V.J., RamirezGuerrero, J.G., Sanchez-Dominguez, C.H. (2020). CTLA4 +49AG (rs231775) and CT60 (rs3087243) gene variants are not associated with alopecia areata in a Mexican population from Monterrey Mexico. Anais Brasileiros de Dermatologia, 95(3), 283-288. https://doi.org/10.1016/j.abd.2020.03.001
  • Seleit, I., Bakry, O. A., Gayed, E.,A., Gawad, A. E. D., (2018). Polymorphism of FAS and FAS Ligand Genes in Alopecia Areata: A Case-control Study in Egyptian Population. Indian J Dermatol, 63(3):220-226. https://doi.org/10.4103/ijd.IJD_286_17
  • Shımızu, T., Hizawa, N., Honda, A., Zhao, Y., Abe, R., Watanabe, H., Nishihira, J., Nishimura, M., Shimizu, H., (2005). Promoter region polymorphism of macrophage migration inhibitory factor is strong risk factor for young onset of extensive alopecia areata, Genes and Immunity, 6, 285–289.
  • Subramanya, R. D., Coda, A. B., Sinha, A. A., (2010). Transcriptional profiling in alopecia areata defines immune and cell cycle control related genes within disease-specific signatures, Genomics, 96, 146–153.
  • Yazıcı, A. C., Başterzi, A., Acar, Ş. T., Üstünsoy, D., İkizoğlu, G., Demirseren, D., Kanık, A., (2006). Alopesi Areata ve Aleksitimi, Türk Psikiyatri Dergisi, 17,101-106.
  • Zhou, B., Chen, M., Shang, S., & Zhao, J. (2022). Association of CTLA-4 gene polymorphisms and alopecia areata: a systematic review and meta-analysis. Biomarkers, 27(4), 338-348. https://doi.org/10.1080/1354750X.2022.2046855

ANALYSIS OF CTLA 4 GENE +49A/G AND CT60 A/G POLYMORPHISMS IN ALOPECIA AREATA PATIENTS

Year 2023, , 29 - 38, 31.08.2023
https://doi.org/10.55895/sshs.1335300

Abstract

Abstract
Alopecia areata (AA) is a common, has organ-specific semptoms and an autoimmune disease that targets hair follicles and causes scarring, hair or hair loss. Although the etiopathogenesis of AA has not been clarified yet; In addition to attitude, psychological factors and persistence factors, autoimmune and inflammatory cells have a polygenic character in which genes are effective. Immunological hair follicle dysfunction process in AA are controlled by activated T cells. It is thought that cytokines released in T cells may cause hair loss in AA. Studies have reported that various genes of the immune system, such as interleukin and cytotoxic T lymphocyte-associated antigen 4 (CTLA4), are effective in the development of the cell membrane, and dysfunction of the CTLA-4 antigen may be associated with various diseases. The CTLA-4 gene polymorphism is thought to be associated with impaired control of T cell proliferation, and this gene is thought to be a candidate gene for susceptibility to autoimmunity. This study was conducted to investigate whether CTLA4 CT60 A/G and +49AG polymorphisms have a role in susceptibility to Alopecia Areata. 195 patients and 173 healthy volunteer controls were included in the study, and genotype and allele frequencies were determined by PCR-RFLP method. The obtained data were analyzed with OpenEpi. Our results showed that the +49AG polymorphism was not associated with AA susceptibility in the Turkish population, but the CT60 polymorphism might be associated with AA susceptibility. However, more studies are needed to confirm our results.

Key Words: Alopecia areata, CTLA4, Immunity, PCR-RFLP











Özet
Alopesi areata (AA), saç foliküllerini hedef alan ve yara izi, saç veya saç dökülmesine neden olan yaygın, otoimmün bir hastalıktır. AA'nın etyopatogenezi henüz netlik kazanmamış olmakla birlikte; Tutum, psikolojik faktörler ve kalıcılık faktörlerine ek olarak, otoimmün ve enflamatuar hücreler, genlerin etkili olduğu poligenik bir karaktere sahiptir. AA'daki kıl folikülü disfonksiyon mekanizmaları immünolojiktir ve aktifleştirilmiş T hücreleri tarafından kontrol edilir. T hücrelerinde salınan sitokinlerin AA'da saç dökülmesine neden olabileceği düşünülmektedir. Çalışmalar, interlökin ve sitotoksik T lenfosit ilişkili antijen 4 (CTLA4) gibi bağışıklık sisteminin çeşitli genlerinin hücre zarının gelişiminde etkili olduğunu ve CTLA-4 antijeninin işlev bozukluğunun çeşitli hastalıklarla ilişkili olabileceğini bildirmiştir. . CTLA-4 gen polimorfizminin, T hücre proliferasyonunun bozulmuş kontrolü ile ilişkili olduğu ve bu genin otoimmüniteye yatkınlık için aday bir gen olduğu düşünülmektedir. Bu çalışma, CTLA4 +49AG ve CT60 polimorfizmlerinin Alopesi Areata'ya duyarlılıkta rolü olup olmadığını araştırmak amacıyla yapılmıştır. 195 hasta ve 173 sağlıklı kontrol çalışmaya dahil edildi ve genotip ve alel frekansları PCR-RFLP yöntemi ile belirlendi. Elde edilen veriler OpenEpi ile analiz edilmiştir. Sonuçlarımız, Türk popülasyonunda +49AG polimorfizminin AA duyarlılığı ile ilişkili olmadığını, ancak CT60 polimorfizminin AA duyarlılığı ile ilişkili olabileceğini göstermiştir. Ancak, sonuçlarımızı doğrulamak için daha fazla çalışmaya ihtiyaç vardır.

Anahtar Kelimeler: Alopesi areata, CTLA4, Bağışıklık, PCR-RFLP

Project Number

2013/16

References

  • Alzolibani, A. A., (2011). Epidemiologic and genetic characteristics of alopecia areata, Acta Dermatoven APA, 20(4), 191-198.
  • Betz, R.C., Petukhova, L., Ripke, S., Huang, H., Menelaou, A., Redler, S. et al. (2015). Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci. Nat Commun, 6(1), 5966. https://doi.org/10.1038/ncomms6966
  • Budak Diler, S., (2017). Mesane Kanserli Hastalarda CTLA-4 Geni +49 A/G Polimorfizminin Araştırılması. Turkiye Klinikleri J Med Sci, 37(1):16-20.
  • John, K.K.G., Brockschmidt, F.F., Redler, S., Becker, T., Nöthen, M.M., & Betz, R.C. (2011). Genetic Variants in CTLA4 Are Strongly Associated with Alopecia Areata. Journal of Investigative Dermatology, 131(5), 1169-1172. https://doi.org/10.1038/jid.2010.427
  • Kırkık, D., Kalkanlı Taş, S., Çağıltay, E., Kalkanlı, N., (2020). Otoimmün tiroid hastalıklarında CTLA4 geninin in silico analizinin değerlendirilmesi. J. Medıcıne Pallıatıve Care; 1(3): 58-6.
  • Martınez-Mır, A., Zlotogorski, A., Gordon, D., Petukhova, L., Mo, J., Gilliam, T. C., Londono, D., Haynes, C., Ott, J., Hordinsky, M., Nanova, K., Norris, D., Price, V., Duvic, M., Christiano, A. M., (2007). Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata, The American Journal of Human Genetics, 80, 316-328.
  • Megiorni, F., Mora, B., Maxia, C., Gerardi, M. , Pizzuti, A. , Rossi, A. (2013). Cytotoxic Tlymphocyte antigen 4 (CTLA4) +49AG and CT60 gene polymorphisms in alopecia areata: a case–control association study in the Italian population. Arch Dermatol Res, 305, 665-670. https://doi.org/10.1007/s00403-013-1348-3
  • Moravvej, H., Tabatabaei-Panah, P.S., Abgoon, R., Khaksar, L., Sokhandan, M., Tarshaei, S., et al.(2018).Genetic variant association of PTPN22, CTLA4, IL2RA, as well as HLA frequencies in susceptibility to alopecia areata. Immunol Invest, 47,666-679. https://doi.org/10.1080/08820139.2018.1480032
  • Rajabi, F., Amoli, M. M., Robati, R. M., Nasrabadi, M. A., Jabalameli, N., (2019). Macrophage migration inhibitory factor polymorphism (rs755622) in alopecia areata: a possible role in disease prevention. Arch Dermatol Res, 311(8):589-594. https://doi.org/10.1007/s00403- 019-01934-9
  • Rajabi, F., Abdollahimajd, F., Navid Jabalameli, N., Kashani, M. N., Firooz, A., (2022). The Immunogenetics of Alopecia areata. Adv Exp Med Biol, 1367:1959. https://doi.org/10.1007/978-3-030-92616-8_2.
  • Rowshanravan, B., Halliday, N., & Sansom, D.M. (2018). CTLA-4: a moving target in immunotherapy. Blood, 131(1), 58-67. https://doi.org/10.1182/blood-2017-06-741033
  • Salinas-Santander, M.A., Cantu-Salinas, C.S., Ocampo-Candiani, J., Suarez-Valencia, V.J., RamirezGuerrero, J.G., Sanchez-Dominguez, C.H. (2020). CTLA4 +49AG (rs231775) and CT60 (rs3087243) gene variants are not associated with alopecia areata in a Mexican population from Monterrey Mexico. Anais Brasileiros de Dermatologia, 95(3), 283-288. https://doi.org/10.1016/j.abd.2020.03.001
  • Seleit, I., Bakry, O. A., Gayed, E.,A., Gawad, A. E. D., (2018). Polymorphism of FAS and FAS Ligand Genes in Alopecia Areata: A Case-control Study in Egyptian Population. Indian J Dermatol, 63(3):220-226. https://doi.org/10.4103/ijd.IJD_286_17
  • Shımızu, T., Hizawa, N., Honda, A., Zhao, Y., Abe, R., Watanabe, H., Nishihira, J., Nishimura, M., Shimizu, H., (2005). Promoter region polymorphism of macrophage migration inhibitory factor is strong risk factor for young onset of extensive alopecia areata, Genes and Immunity, 6, 285–289.
  • Subramanya, R. D., Coda, A. B., Sinha, A. A., (2010). Transcriptional profiling in alopecia areata defines immune and cell cycle control related genes within disease-specific signatures, Genomics, 96, 146–153.
  • Yazıcı, A. C., Başterzi, A., Acar, Ş. T., Üstünsoy, D., İkizoğlu, G., Demirseren, D., Kanık, A., (2006). Alopesi Areata ve Aleksitimi, Türk Psikiyatri Dergisi, 17,101-106.
  • Zhou, B., Chen, M., Shang, S., & Zhao, J. (2022). Association of CTLA-4 gene polymorphisms and alopecia areata: a systematic review and meta-analysis. Biomarkers, 27(4), 338-348. https://doi.org/10.1080/1354750X.2022.2046855
There are 17 citations in total.

Details

Primary Language English
Subjects Clinical Sciences (Other)
Journal Section Research Articles
Authors

Nihan Bozkurt 0000-0002-2283-0828

Kübra Şahin 0000-0001-9870-0176

Saime Sezer Sondaş 0000-0002-7849-3445

Ömer Ateş 0000-0003-4266-393X

Göknur Kalkan 0000-0002-2358-7938

Project Number 2013/16
Publication Date August 31, 2023
Submission Date July 31, 2023
Published in Issue Year 2023

Cite

APA Bozkurt, N., Şahin, K., Sezer Sondaş, S., Ateş, Ö., et al. (2023). ANALYSIS OF CTLA 4 GENE +49A/G AND CT60 A/G POLYMORPHISMS IN ALOPECIA AREATA PATIENTS. Sabuncuoglu Serefeddin Health Sciences, 5(2), 29-38. https://doi.org/10.55895/sshs.1335300


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