Moravvej Hamideh, Tabatabaei-Panah Pardis-Sadat, Abgoon Reyhaneh, Khaksar Leyla, Sokhandan Masumeh, Tarshaei Saba, Ghaderian Sayyed Mohammad Hossein, Ludwig Ralf J, Akbarzadeh Reza
a Skin Research Centre , Shahid Beheshti University of Medical Sciences , Tehran , Iran.
b Biology Department , East Tehran Branch, Islamic Azad University , Tehran , Iran.
Immunol Invest. 2018 Oct;47(7):666-679. doi: 10.1080/08820139.2018.1480032. Epub 2018 Jul 6.
Alopecia areata (AA) is characterized by a genetically complex inheritance. HLA frequencies, as well as the single nucleotide polymorphism (SNP) in PTPN22, CTLA4, and IL2RA genes, have been described to be associated with AA susceptibility. So far, no independent replication of these studies has been reported, and no data exist on a possible association between AA disease and these SNPs or influence of HLA frequencies in Iranian population. A possible association between HLA-DRB111 alleles as well as a single variation in PTPN22, CTLA4, and IL2RA genes and patchy AA disease have been investigated in a cohort from Iran. Patient and control subjects were genotyped for PTPN22 (rs2476601), CTLA4 (rs3087243), and IL2RA (rs3118470) variations as well as HLA frequencies. Gene expression levels were analyzed by real-time RT-PCR. In contrast to PTPN22 and CTLA4 gene polymorphisms, a significant association was found between IL2RA SNP and susceptibility to AA in Iranian cohort. While gene expression levels of IL2RA and PTPN22 were higher in the patients than that of controls, CTLA4 expression levels found significantly lower in the patients. Despite a significant association between AA and HLA-DRB111 frequencies, the presence of DRB1*11 is not associated with PTPN22, CTLA4, or IL2RA gene SNPs. Although the minor allele in IL2RA SNP can be a significant determinant of AA disease development in Iranian population, reported an association between the PTPN22 and CTLA4 variations was not confirmed by our study. Furthermore, these genetic risk factors might act independently from HLA alleles.
斑秃（AA）具有遗传复杂性。已有研究表明，HLA频率以及PTPN22、CTLA4和IL2RA基因中的单核苷酸多态性（SNP）与AA易感性相关。到目前为止，尚未有这些研究的独立重复报道，也没有关于伊朗人群中AA疾病与这些SNP之间可能存在的关联或HLA频率影响的数据。在一组来自伊朗的队列中，研究了HLA - DRB111等位基因以及PTPN22、CTLA4和IL2RA基因中的单个变异与斑秃疾病之间的可能关联。对患者和对照受试者进行了PTPN22（rs2476601）、CTLA4（rs3087243）和IL2RA（rs3118470）变异以及HLA频率的基因分型。通过实时RT - PCR分析基因表达水平。与PTPN22和CTLA4基因多态性相反，在伊朗队列中发现IL2RA SNP与AA易感性之间存在显著关联。虽然患者中IL2RA和PTPN22的基因表达水平高于对照组，但患者中CTLA4的表达水平显著较低。尽管AA与HLA - DRB111频率之间存在显著关联，但DRB1*11的存在与PTPN22、CTLA4或IL2RA基因SNP无关。虽然IL2RA SNP中的次要等位基因可能是伊朗人群中AA疾病发展的重要决定因素，但我们的研究未证实PTPN22和CTLA4变异之间的关联报道。此外，这些遗传风险因素可能独立于HLA等位基因起作用。
