Rheumatic Diseases Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
Antimicrobial Resistance Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
Curr Rheumatol Rev. 2021;17(4):404-411. doi: 10.2174/1573397117666210309152847.
The present study was designed to evaluate the association of transporters associated with antigen processing (TAP2) polymorphisms TAP2-379Ile > Val (rs1800454), TAP2-665Thr > Ala (rs241447) and TAP2-565Ala > Thr (rs2228396) as a candidate gene with susceptibility to the Systemic Lupus Erythematosus (SLE).
To analyze these three polymorphic variants, 88 patients with SLE and 100 healthy controls from northeastern Iran were enrolled from May 2018 to July 2019. Genomic DNA polymorphisms were performed by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) technique. Data were analyzed by SPSS software.
In this cross-sectional study, there was a stratification between patients and controls. The distribution of the frequency of Ala73 (41.5%) allele at TAP2/665 and Ile 19 (10.8%) allele at TAP2/379 was higher in patients. Additionally, the Ala/Ala 13(14.8%) and Ala/Thr 49(55.7%) genotypes distributions at 665 positions were higher in SLE patients compared to the controls. Furthermore, frequencies of TAP2H allele significantly increased in SLE patients 10(5.71%) (P=0.01). Frequency of TAP2A allele in the control group was 120(60%) (p=0.06) due to the dominant genetic model. This allele has a protective effect against SLE. There was no relationship between TAP2D, TAP2E, TAP2F and TAP2G alleles with the outbreak of SLE.
Our data indicated that genetic variants in TAP2 gene may be associated with SLE disease. A correlation between Ala allele at TAP2/665 and Ile allele at TAP2/379 polymorphisms and pathogenesis of SLE was observed.
本研究旨在评估抗原加工相关转运体（TAP）多态性 TAP2-379Ile > Val（rs1800454）、TAP2-665Thr > Ala（rs241447）和 TAP2-565Ala > Thr（rs2228396）作为候选基因与系统性红斑狼疮（SLE）易感性的相关性。
为了分析这三种多态性变体，2018 年 5 月至 2019 年 7 月，从伊朗东北部招募了 88 名 SLE 患者和 100 名健康对照者进行研究。采用扩增受阻突变系统-聚合酶链反应（ARMS-PCR）技术对基因组 DNA 多态性进行分析。数据采用 SPSS 软件进行分析。
在这项病例对照研究中，对患者和对照组进行了分层。TAP2/665 处 Ala73（41.5%）等位基因和 TAP2/379 处 Ile19（10.8%）等位基因的频率在患者中分布较高。此外，与对照组相比，SLE 患者 TAP2/665 处 Ala/Ala13（14.8%）和 Ala/Thr49（55.7%）基因型的分布较高。此外，SLE 患者 TAP2H 等位基因的频率显著增加 10（5.71%）（P=0.01）。由于显性遗传模型，对照组 TAP2A 等位基因的频率为 120（60%）（p=0.06）。该等位基因对 SLE 具有保护作用。TAP2D、TAP2E、TAP2F 和 TAP2G 等位基因与 SLE 的发病无关。
我们的数据表明 TAP2 基因的遗传变异可能与 SLE 疾病有关。TAP2/665 处的 Ala 等位基因和 TAP2/379 处的 Ile 等位基因的多态性与 SLE 的发病机制有关。
