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HLA-B 与 MICA 蛋白跨膜短串联重复多态性的联合研究表明,两者与疾病均具有独立相关性。

Joint study of the associations of HLA-B and the transmembrane short tandem repeat polymorphism of MICA protein with alopecia areata shows independent associations of both with the disease.

机构信息

UGC Laboratorio Análisis Clínicos, Hospital Universitario Virgen de las Nieves, Granada, Spain.

UGC Dermatología, Hospital Universitario Virgen de las Nieves, Granada, Spain.

出版信息

Clin Exp Dermatol. 2020 Aug;45(6):699-704. doi: 10.1111/ced.14208. Epub 2020 Jun 10.

DOI:10.1111/ced.14208
PMID:32112449
Abstract

BACKGROUND

Alopecia areata (AA) is a skin disease that produces hair loss in patches of skin. The underlying mechanism of AA is a loss of immune privilege of hair follicles, which are then attacked by natural killer (NK) cells. A previous genome-wide association study linked single nucleotide polymorphisms of the protein MHC class I chain-related A (MICA) to this disease. MICA is the ligand for the activating receptor NKG2D, expressed mainly by NK cells and CD8+ cytotoxic T cells. As the aforementioned study did not include short tandem repeats (STRs) of MICA, we decided to study these in relation to AA.

AIM

To study the association of STRs with AA, alongside that of human leucocyte antigen (HLA) locus B, which is closely linked to MICA.

METHODS

DNA amplicon size analysis was carried out, and HLA-B locus genomic typing was performed by PCR-sequence-specific oligonucleotide analysis.

RESULTS

We observed an association between AA and both MICA*009 and HLA-B14; associations were also observed between HLA-B alleles and MICA alleles, which have both been previously found to be connected with AA, but never studied together.

CONCLUSIONS

We conclude that it is important to study HLA-B and MICA together to avoid the influence of their association in experiments in which they are investigated separately.

摘要

背景

斑秃是一种皮肤疾病,会导致皮肤出现块状脱发。斑秃的根本机制是毛囊失去免疫特权,随后被自然杀伤 (NK) 细胞攻击。先前的全基因组关联研究将主要组织相容性复合体 I 类链相关 A 蛋白 (MICA) 的单核苷酸多态性与这种疾病联系起来。MICA 是激活受体 NKG2D 的配体,主要由 NK 细胞和 CD8+细胞毒性 T 细胞表达。由于上述研究未包括 MICA 的短串联重复序列 (STRs),我们决定研究这些 STRs 与斑秃的关系。

目的

研究 STRs 与 AA 以及与 MICA 紧密连锁的人类白细胞抗原 (HLA) 基因座 B 之间的关联。

方法

进行 DNA 扩增子大小分析,并通过聚合酶链反应-序列特异性寡核苷酸分析进行 HLA-B 基因座基因组分型。

结果

我们观察到 AA 与 MICA*009 和 HLA-B14 之间存在关联;还观察到 HLA-B 等位基因与 MICA 等位基因之间存在关联,这些等位基因以前都与 AA 有关联,但从未一起研究过。

结论

我们得出的结论是,重要的是要一起研究 HLA-B 和 MICA,以避免在单独研究它们的实验中受到它们关联的影响。

相似文献

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Joint study of the associations of HLA-B and the transmembrane short tandem repeat polymorphism of MICA protein with alopecia areata shows independent associations of both with the disease.HLA-B 与 MICA 蛋白跨膜短串联重复多态性的联合研究表明,两者与疾病均具有独立相关性。
Clin Exp Dermatol. 2020 Aug;45(6):699-704. doi: 10.1111/ced.14208. Epub 2020 Jun 10.
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引用本文的文献

1
Alopecia Areata: A Review of the Genetic Variants and Immunodeficiency Disorders Associated with Alopecia Areata.斑秃:与斑秃相关的基因变异和免疫缺陷疾病综述
Skin Appendage Disord. 2023 Oct;9(5):325-332. doi: 10.1159/000530432. Epub 2023 Jul 4.
2
Alopecia Areata: Burden of Disease, Approach to Treatment, and Current Unmet Needs.斑秃:疾病负担、治疗方法及当前未满足的需求
Clin Cosmet Investig Dermatol. 2023 Mar 31;16:803-820. doi: 10.2147/CCID.S376096. eCollection 2023.