Division of Pediatric Immunology, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
Department of Bioinformatics, Institute of Health Sciences, Hacettepe University, Ankara, Turkey.
Immunol Invest. 2021 May;50(4):363-371. doi: 10.1080/08820139.2020.1759622. Epub 2020 May 5.
Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency. Certain gene loci are pointed out in several studies in CVID patients. Until now, monogenic defects have been identified in only 2-10% of CVID patients; therefore, association of the disease with HLA alleles may be important for elucidating immunological and genetic mechanisms behind CVID. The aim of this study is to investigate the relationship between CVID and HLA alleles.
HLA class I/II alleles were analyzed in 65 patients with CVID and alleles that may be related to disease susceptibility were determined by comparing with 300 healthy controls. We also evaluated HLA allele frequencies in CVID patients with gastrointestial system (GIS) involvement and autoimmune manifestations.
When compared with controls, frequencies of B27, B35, C04, and DRB104 alleles were significantly different in patients with CVID ( < .05). Frequencies of C12, DRB113, and DRB1*15 alleles were more frequent in controls, indicating protective alleles ( < .05). There was a statistically significant difference for DQ2 and DQ8 haplotypes between patients with GIS involvement and controls.
In comparison with literature, distinctive HLA alleles found in our study may originate from the diversity in gene pool between the populations. These data may provide clues for disease susceptibility.
普通可变免疫缺陷（CVID）是最常见的有症状原发性免疫缺陷。在几项 CVID 患者的研究中指出了某些基因座。到目前为止，仅在 2-10%的 CVID 患者中发现了单基因缺陷；因此，疾病与 HLA 等位基因的关联可能对于阐明 CVID 背后的免疫和遗传机制很重要。本研究旨在探讨 CVID 与 HLA 等位基因的关系。
分析了 65 例 CVID 患者的 HLA Ⅰ/Ⅱ类等位基因，并通过与 300 名健康对照进行比较，确定了可能与疾病易感性相关的等位基因。我们还评估了有胃肠道（GIS）受累和自身免疫表现的 CVID 患者的 HLA 等位基因频率。
与对照组相比，CVID 患者的 B27、B35、C04 和 DRB104 等位基因频率明显不同（<0.05）。C12、DRB113 和 DRB1*15 等位基因在对照组中更为常见，表明是保护性等位基因（<0.05）。GIS 受累患者与对照组之间的 DQ2 和 DQ8 单体型存在统计学差异。
与文献相比，我们的研究中发现的独特 HLA 等位基因可能源于人群之间基因库的多样性。这些数据可能为疾病易感性提供线索。
