白癜风患者的 N-乙酰转移酶 2 基因多态性及其血清水平。

Q2 Health Professions Journal of immunoassay & immunochemistry Pub Date : 2024-11-01 Epub Date: 2024-10-15 DOI:10.1080/15321819.2024.2415898
Heba A S Bazid, Mostafa A Hammam, Mona H Keshk, Mohammed L Mostafa, Eman M Abd El Gayed
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引用次数: 0

摘要

背景:目的:评估白癜风患者的N-乙酰转移酶2(rs1799929)基因及其血清水平:在这项病例对照研究中,65 名白癜风患者与 65 名年龄和性别匹配的健康对照者进行了比较。结果:血清中的NAT2水平和NAT2基因多态性(rs1799929)分别通过ELISA和实时PCR进行了评估:结果:病例的血清 N-乙酰转移酶 2 水平明显低于对照组(1.24 ± 0.31 vs. 2.01 ± 0.46,p = 0.001)。CC基因型在对照组(58.5%)中比在病例(20%)中更占优势。TT和CT基因型在病例(30.8%和49.2%)中的显性比例分别高于对照组(13.8%和27.7%)(p = 0.001)。C等位基因在对照组(72.3%)中比在病例(44.6%)中更突出,而T等位基因在病例(55.4%)中比在对照组(27.7%)中更显性(P = 0.001)。N-乙酰转移酶 2 慢乙酰化酶表型(TT 基因型)在病例中的比例(30.8%)高于对照组(13.8%),而快速乙酰化酶表型(CC 和 CT 基因型)在对照组中的比例(86.2%)高于病例(69.2%)(P = 0.035):NAT2基因(rs1799929)的慢乙酰化基因型(TT)和低血清水平的NAT2酶可能在白癜风的易感性和发病机制中起作用。
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N-Acetyltransferase 2 gene polymorphism and its serum levels in vitiligo patients.

Background: Although numerous mechanisms are involved in vitiligo pathogenesis, few studies correlate N-acetyltransferase 2 to this disease.

Aim: To assess the N-acetyltransferase 2 (rs1799929) gene and its serum levels in vitiligo patients.

Subjects and methods: In this case-control study, 65 vitiligo cases were compared to 65 age- and sex-matched healthy controls. Serum NAT2 levels and the NAT2 gene polymorphism (rs1799929) were evaluated using ELISA and real-time PCR, respectively.

Results: Serum N-acetyltransferase 2 levels were significantly lower in cases than in controls, 1.24 ± 0.31 vs. 2.01 ± 0.46 (p = 0.001). CC genotype was more dominant in controls (58.5%) than in cases (20%). TT and CT genotypes were more dominant in cases (30.8% and 49.2%) than in controls (13.8% and 27.7%), respectively (p = 0.001). The C allele was more prominent in controls (72.3%) than in cases (44.6%) while the T allele was more dominant in cases (55.4%) than in controls (27.7%) (p = 0.001). N-acetyltransferase 2 slow acetylator phenotype (TT genotype) was higher in cases (30.8%) than in controls (13.8%) and rapid acetylator phenotypes (CC and CT genotypes) were higher in controls (86.2%) than in cases (69.2%) (p = 0.035).

Conclusion: Slow acetylator genotype (TT) of NAT2 gene (rs1799929) and low serum levels of NAT2 enzyme might play a role in the susceptibility and pathogenesis of vitiligo.

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来源期刊
CiteScore
3.50
自引率
0.00%
发文量
38
审稿时长
>12 weeks
期刊介绍: The Journal of Immunoassay & Immunochemistry is an international forum for rapid dissemination of research results and methodologies dealing with all aspects of immunoassay and immunochemistry, as well as selected aspects of immunology. They include receptor assay, enzyme-linked immunosorbent assay (ELISA) in all of its embodiments, ligand-based assays, biological markers of ligand-receptor interaction, in vivo and in vitro diagnostic reagents and techniques, diagnosis of AIDS, point-of-care testing, clinical immunology, antibody isolation and purification, and others.
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