Association of Rs231775 Genetic Variant of Cytotoxic T-lymphocyte Associated Protein 4 with Alopecia Areata Disease in Males: A Case–Control Study

References

• Alkhalifah A. 2013. Alopecia areata update. Dermatol Clin. 31:93–108.
   PubMed Web of Science ®Google Scholar
• Alkhalifah A, Alsantali A, Wang E, McElwee KJ, Shapiro J. 2010. Alopecia areata update: part I. Clinical picture, histopathology, and pathogenesis. J Am Acad Dermatol. 62:177–88.
   PubMed Web of Science ®Google Scholar
• Amin SS, Sachdeva S. 2013. Alopecia areata: A review. J Saudi Soc Dermatol Dermatol Surg. 17:37–45.
   Google Scholar
• Anjos S, Nguyen A, Ounissi-Benkalha H, Tessier MC, Polychronakos C. 2002. A common autoimmunity predisposing signal peptide variant of the cytotoxic T-lymphocyte antigen 4 results in inefficient glycosylation of the susceptibility allele. J Biol Chem. 277:46478–86.
   PubMed Web of Science ®Google Scholar
• Barreto M, Santos E, Ferreira R, Fesel C, Fontes MF, Pereira C, Martins B, Andreia R, Viana JF, Crespo F, et al. 2004. Evidence for CTLA4 as a susceptibility gene for systemic lupus erythematosus. Eur J Hum Genet. 12(8):620–26.
   PubMed Web of Science ®Google Scholar
• Betz RC, Petukhova L, Ripke S, Huang H, Huang H, Menelaou A, Redler S, Becker T, Heilmann S, Yamany T, et al. 2015. Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci. Nature. 6:5966.
   Web of Science ®Google Scholar
• Chaitra V, Rajalakshmi T, Kavdia R. 2010. Histopathologic profile of alopecia areata in Indian patients. Int J Trichol. 2(1):14–17.
   PubMedGoogle Scholar
• Chang WW, Zhang L, Yao YS, Su H. 2012. Association between CTLA-4 exon-1 +49A/G polymorphism and systemic lupus erythematosus: an updated analysis. Mol Biol Rep. 39(9):9159–65.
   PubMed Web of Science ®Google Scholar
• Chen X, Hu Z, Liu M, Li H, Liang C, Li W, Bao L, Chen M, Wu G. 2018. Correlation between CTLA-4 and CD40 gene polymorphisms and their interaction in graves ‘disease in a Chinese Han population. BMC Med Genet. 19(1):171.
   PubMedGoogle Scholar
• Chistyakov DA, Savost’anov KV, Turakulov RI, Petunina NA, Trukhina LV, Kudinova AV, Balabolkin MI, Nosikov VV. 2000. Complex association analysis of Graves’ disease using a set of polymorphic markers. Mol Genet Metab. 70(3):214–18.
   PubMed Web of Science ®Google Scholar
• Deppisch N, Ruf P, Eißler N, Lindhofer H, Mocikat R. 2017. Potent CD4+ T cell-associated antitumor memory responses induced by trifunctional bispecific antibodies in combination with immune checkpoint inhibition. Oncotarget. 8(3):4520.
   PubMedGoogle Scholar
• Djilali-Saiah I, Schmitz J, Harfouch-Hammoud E, Mougenot JF, Bach JF, Caillat-Zucman S. 1998. CTLA-4 gene polymorphism is associated with predisposition to coeliac disease. Gut. 43:187–89.
   PubMed Web of Science ®Google Scholar
• Dong F, Yang G, Pan HW, Huang WH, Jing LP, Liang WK, Zhang N, Zhang BH, Wang M, Liu Y, et al. 2014. The association of PTPN22 rs2476601 polymorphism and CTLA-4 rs231775 polymorphism with LADA risks: a systematic review and meta-analysis. Acta Diabetol. 51(5):691–703.
   PubMed Web of Science ®Google Scholar
• Eskandari-Nasab E, Tahmasebi A, Hashemi M. 2015. Meta-analysis: the relationship between CTLA-4 +49 A/G polymorphism and primary biliary cirrhosis and type I autoimmune hepatitis. Immunol Invest. 44(4):331–48.
   PubMed Web of Science ®Google Scholar
• Gough SC, Walker LS, Sansom DM. 2005. CTLA4 gene polymorphism and autoimmunity. Immunol Rev. 204:102–15.
   PubMed Web of Science ®Google Scholar
• Gu M, Kakoulidou M, Giscombe R, Pirskanen R, Lefvert AK, Klareskog L, Wang X. 2008. Identification of CTLA-4 isoforms produced by alternative splicing and their association with myasthenia gravis. Clin Immunol. 128:374–81.
   PubMed Web of Science ®Google Scholar
• Gunavathy N, Asirvatham A, Chitra A, Jayalakshmi M. 2019. Association of CTLA-4 and CD28 gene polymorphisms with type 1 diabetes in South Indian population. Immunol Invest. 48(6):659–71.
   PubMed Web of Science ®Google Scholar
• Hunt KA, McGovern DP, Kumar PJ, Ghosh S, Travis SP, Walters JR, Jewell DP, Playford RJ, van Heel DA. 2005. A common CTLA4 haplotype associated with coeliac disease. Eur J Hum Genet. 13(4):440–44.
   PubMed Web of Science ®Google Scholar
• Ito T. 2013. Recent advances in the pathogenesis of autoimmune hair loss disease alopecia areata. Clin Dev Immunol. 2013:8–13.
   Google Scholar
• John KK, Brockschmidt FF, Redler S, Herold C, Hanneken S, Eigelshoven S, Giehl KA, De Weert J, Lutz G, Kruse R, et al. 2011. Genetic variants in CTLA4 are strongly associated with alopecia areata. J Invest Dermatol. 131(5):1169–72.
   PubMed Web of Science ®Google Scholar
• Kolar P, Knieke K, Hegel JK, Quandt D, Burmester GR, Hoff H, Brunner-Weinzierl MC. 2009. CTLA-4 (CD152) controls homeostasis and suppressive capacity of regulatory T cells in mice. Arthritis Rheum. 60:123–32.
   PubMed Web of Science ®Google Scholar
• Kouki T, Sawai Y, Gardine CA, Fisfalen ME, Alegre ML, DeGroot LJ. 2000. CTLA-4 gene polymorphism at position 49 in exon 1 reduces the inhibitory function of CTLA-4 and contributes to the pathogenesis of Graves’ disease. J Immunol. 165:6606–661124.
   PubMed Web of Science ®Google Scholar
• Luterek-Puszyńska K, Malinowski D, Paradowska-Gorycka A, Safranow K, Pawlik A. 2017. CD28, CTLA-4 and CCL5 gene polymorphisms in patients with rheumatoid arthritis. Clin Rheumatol. 36(5):1129–35.
   PubMed Web of Science ®Google Scholar
• Moravvej H, Tabatabaei-Panah PS, Abgoon R, Khaksar L, Sokhandan M, Tarshaei S, Ghaderian SMH, Ludwig RJ, Akbarzadeh R. 2018. Genetic variant association of PTPN22, CTLA4, IL2RA, as well as HLA frequencies in susceptibility to alopecia areata. Immunol Invest. 47(7):666–79.
   PubMed Web of Science ®Google Scholar
• Nguyen A, Hulleman JD. 2016. Evidence of alternative cystatin C signal sequence cleavage which is influenced by the A25T polymorphism. PLoS One. 11(2):e0147684.
   PubMed Web of Science ®Google Scholar
• Nilsson LN, Das S, Potter H. 2001. Effect of cytokines, dexamethasone and the A/T-signal peptide polymorphism on the expression of alpha(1)-antichymotrypsin in astrocytes: significance for Alzheimer’s disease. Neurochem Int. 39(5–6):361–70.
   PubMed Web of Science ®Google Scholar
• Olsen EA, Hordinsky MK, Price VH, Roberts JL, Shapiro J, Canfield D, Duvic M, King LE Jr, McMichael AJ, Randall VA, et al.; National Alopecia Areata Foundation. 2004. Alopecia areata investigational assessment guidelines: part II. National Alopecia Areata Foundation. J Am Acad Dermatol. 51:440–47.
   PubMed Web of Science ®Google Scholar
• Owji H, Nezafat N, Negahdaripour M, Hajiebrahimi A, Ghasemi Y. 2018. A comprehensive review of signal peptides: structure, roles, and applications. Eur J Cell Biol. 97(6):422–41.
   PubMed Web of Science ®Google Scholar
• Petukhova L, Duvic M, Hordinsky M, Norris D, Price V, Shimomura Y, Kim H, Singh P, Lee A, Chen WV, et al. 2010. Genome-wide association study in alopecia areata implicates both innate and adaptive immunity. Nature. 466:113–17.
   PubMed Web of Science ®Google Scholar
• Pratt CH, King LE, Messenger AG, Christiano AM, Sundberg JP. 2017. Alopecia areata. Nat Rev Dis Primers. 3:17011.
   PubMed Web of Science ®Google Scholar
• Rhein C, Reichel M, Mühle C, Rotter A, Schwab SG, Kornhuber J. 2014. Secretion of acid Sphingomyelinase is affected by its polymorphic signal peptide. Cell Physiol Biochem. 34(4):1385–401.
   PubMedGoogle Scholar
• Ting WH, Chien MN, Lo FS, Wang CH, Huang CY, Lin CL, Lin WS, Chang TY, Yang HW, Chen WF, et al. 2016. Association of cytotoxic T-lymphocyte-associated protein 4 (CTLA4) gene polymorphisms with autoimmune thyroid disease in children and adults: case-control study. PLoS One. 11(4):e0154394.
   PubMed Web of Science ®Google Scholar
• Ueda H, Howson JM, Esposito L, Heward J, Snook H, Chamberlain G, Rainbow DB, Hunter KM, Smith AN, Di Genova G, et al. 2003. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature. 423(6939):506–11.
   PubMed Web of Science ®Google Scholar