银屑病关节炎患者的等位基因和单倍型HLA分析:常见等位基因的低频率

Omar-Javier Calixto, María-Alejandra Meneses-Toro, Paula Andrea Chacón, Mónica Acevedo-Godoy, Luisa Constanza Robayo, Juan Manuel Bello-Gualtero, Wilson Bautista-Molano, Verónica Noguera, Jaime Cortés, Consuelo Romero-Sánchez
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引用次数: 0

摘要

银屑病关节炎是一种复杂的疾病,人类白细胞抗原(HLA)是其发展的关键。拉丁美洲,特别是哥伦比亚,关于银屑病关节炎患者的数据很少。目的:探讨银屑病关节炎HLA等位基因的基因型、等位基因和单倍型频率及其与临床变量的关系。材料和方法:我们在2012年至2023年间进行了一项回顾性研究,纳入了根据CASPAR标准评估的成年银屑病关节炎患者。我们纳入了在Luminex 100/200 xMAP™设备中通过PCR/SSO进行HLA-A、B、C和DR基因分型的健康供者。我们对健康供者和银屑病关节炎患者的HLA进行了比较分析。结果:我们纳入了401名健康对照和37名银屑病关节炎患者,其中我们鉴定了46个基因型,75个等位基因和32个单倍型。最常见的HLA是HLA- a *24(37.1%)、HLA- b *35(20.8%)、HLA- c *3和HLA- c *7(各占19.9%)和HLADR* 4(30%)。与健康供者相比,患者HLA-A*02、HLA-A*11、HLA-B*35、HLA-DR*01、HLA-DR*07、HLA-DR*13、HLA-DR*15基因型频率较低(p < 0.05),说明尽管HLA-B*35在银屑病关节炎中常见,但与健康对照组相比,其频率较低。HLA-A*24和HLA-B*44在皮肤受累、HLA-B*40和HLA-B*35在关节受累、HLA-A*26和HLA-C*16在关节外表现的频率差异有统计学意义(p < 0.05)。HLA-A*26:01和HLA-C*16:01在关节外表现中的等位基因频率也有统计学意义。HLA-Cw*6等位基因频率为6.7%,HLA-B*27等位基因缺失。结论:银屑病关节炎患者HLA分析显示HLA- c *06较低,HLA- b *27缺失,与白种人不同。这些结果还揭示了其他感兴趣的等位基因。发现的差异可能与我们人口中重要的种族混合有关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Allelic and haplotypic HLA analysis in patients with psoriatic arthritis: Low frequency of common alleles

Introduction: Psoriatic arthritis is a complex disease, and human leukocyte antigens (HLA) are key to its development. Latin America and, specifically, Colombia, has scarce data about patients with psoriatic arthritis.

Objective: To describe the genotypic, allelic and haplotypic frequency of HLA alleles in psoriatic arthritis and associate them with clinical variables.

Materials and methods: We conducted a retrospective study involving adult patients with psoriatic arthritis, evaluated according to CASPAR criteria, between 2012 and 2023. We included healthy donors whose HLA-A, B, C, and DR were genotyped by PCR/SSO in a Luminex 100/200 xMAP™ device. We performed an HLA comparative analysis between healthy donors and psoriatic arthritis patients.

Results: We included 401 healthy controls and 37 patients with psoriatic arthritis, in which we identified 46 genotypes, 75 alleles, and 32 haplotypes. The most frequent HLA were HLA-A*24 (37.1%), HLA-B*35 (20.8%), HLA-C*3 and HLA-C*7 (19.9% each), and HLADR* 4 (30%). Compared to healthy donors, the patient’s genotypic frequency was lower for HLA-A*02, HLA-A*11, HLA-B*35, HLA-DR*01, HLA-DR*07, HLA-DR*13, and HLA-DR*15 (p < 0.05), which means that even though HLA-B*35 was frequent in psoriatic arthritis, it's frequency was lower when compared to that of healthy controls. The frequency of HLA-A*24 and HLA-B*44 was different in cutaneous involvement (p < 0.05), HLA-B*40 and HLA-B*35 in joint involvement (p < 0.05), and HLA-A*26 and HLA-C*16 in extra-articular manifestations (p < 0.05). The allelic frequency of HLA-A*26:01 and HLA-C*16:01 in extra-articular manifestations was also significant. The frequency of HLA-Cw*6 was 6.7% and the allele HLA-B*27 was absent.

Conclusions: The HLA analysis in psoriatic arthritis showed a low frequency of HLA-C*06 and absence of HLA-B*27, different from the information reported for Caucasian population. These results also revealed other alleles of interest. Found differences could be related to the important racial mixing of our population.

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