约旦阿拉伯人后裔斑秃的候选基因分析:一项病例对照研究

IF 2.6 Q2 GENETICS & HEREDITY Application of Clinical Genetics Pub Date : 2019-11-21 DOI:10.2147/TACG.S226664
L. Al-Eitan, Rawan O. Al Momani, Khalid K Al Momani, Ahmad M Al Warawrah, Hanan A. Aljamal, M. Alghamdi, A. Muhanna, Firas A. Al-qarqaz
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引用次数: 5

摘要

斑秃(AA)是一种发生在头皮、面部或身体其他部位的非瘢痕性斑状脱发。发现AA对免疫抑制疗法有反应,这一发现支持了该疾病的自身免疫基础。一些遗传学研究表明,免疫因子是AA的关键遗传成分。目的研究约旦阿拉伯人群中5个候选基因(包括TAP1、CXCL1、CXCL2、HSPA1B和TNFα) 7个单核苷酸多态性与AA易感性的遗传关系。方法采用测序MassARRAY系统(iPLEX GOLD)对152例患者和150例健康人进行病例对照遗传关联研究,对所选snp进行基因分型。结果TNFα基因rs1800629 SNP与AA在杂合子和罕见纯合子基因型中存在显著相关性(P=0.022和P=0.0079),而与TAP1、CXCL1、CXCL2和HSPA1B基因型无连锁关系。结论:这是首次在约旦人群中进行的此类研究,为TNFα与AA易感性的遗传关联提供了证据。需要对阿拉伯后裔进行进一步的遗传研究,包括其他变异,以澄清和加强这些基因与AA易感性的关联。
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Candidate Gene Analysis Of Alopecia Areata In Jordanian Population Of Arab Descent: A Case–Control Study
Background Alopecia areata (AA) is a non-cicatricial patchy hair loss on the scalp, face or other parts of the body. AA was found to be responsive to immunosuppressive therapies, a finding that supports an autoimmune basis for the disease. Several genetic studies have shown the significance of immunological factors as key genetic components in AA. Objective In this study, we aimed to investigate the genetic association of 7 single-nucleotide polymorphisms (SNPs) within five candidate genes including TAP1, CXCL1, CXCL2, HSPA1B, and TNFα with AA susceptibility in the Jordanian Arab population. Methods A case–control genetic association study conducted in 152 patients and 150 healthy individuals was performed using the sequenom MassARRAY system (iPLEX GOLD) to genotype the selected SNPs. Results rs1800629 SNP of the TNFα gene was significantly associated with AA in the heterozygous and rare homozygous genotypes (P=0.022 and P=0.0079, respectively) with no linkage of the TAP1, CXCL1, CXCL2 and HSPA1B variants. Conclusion This is the first study of its kind among the Jordanian population providing evidence of genetic association of the TNFα with AA susceptibility. Further genetic studies on Arab descent including other variants are required to clarify and strengthen the association of these genes with susceptibility to develop AA.
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来源期刊
Application of Clinical Genetics
Application of Clinical Genetics Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
5.40
自引率
0.00%
发文量
20
审稿时长
16 weeks
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