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乙酰转移酶 2 基因多态性及其在白癜风患者血清中的水平。

N-Acetyltransferase 2 gene polymorphism and its serum levels in vitiligo patients.

机构信息

Dermatology and Andrology Department, Faculty of Medicine, Menoufia University, Shebin Elkom, Egypt.

Clinical Pathology Department, Medical Division, National Research Centre, Cairo, Egypt.

出版信息

J Immunoassay Immunochem. 2024 Nov;45(6):518-528. doi: 10.1080/15321819.2024.2415898. Epub 2024 Oct 15.

Abstract

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 ( = 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 ( = 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%) ( = 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%) ( = 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.

摘要

背景

尽管有许多机制参与了白癜风的发病机制,但很少有研究将 N-乙酰转移酶 2 与这种疾病联系起来。

目的

评估 N-乙酰转移酶 2(rs1799929)基因及其在白癜风患者中的血清水平。

受试者和方法

在这项病例对照研究中,将 65 例白癜风患者与 65 例年龄和性别匹配的健康对照进行比较。采用酶联免疫吸附法(ELISA)和实时聚合酶链反应(PCR)分别评估血清 NAT2 水平和 NAT2 基因多态性(rs1799929)。

结果

病例组血清 N-乙酰转移酶 2 水平明显低于对照组,分别为 1.24±0.31 和 2.01±0.46(=0.001)。CC 基因型在对照组(58.5%)中比在病例组(20%)中更为优势。TT 和 CT 基因型在病例组中更为优势(30.8%和 49.2%),而在对照组中更为优势(13.8%和 27.7%)(=0.001)。C 等位基因在对照组中更为突出(72.3%),而在病例组中更为突出(44.6%),而 T 等位基因在病例组中更为优势(55.4%),而在对照组中更为优势(27.7%)(=0.001)。N-乙酰转移酶 2 慢乙酰化表型(TT 基因型)在病例组中(30.8%)高于对照组(13.8%),而快速乙酰化表型(CC 和 CT 基因型)在对照组中(86.2%)高于病例组(69.2%)(=0.035)。

结论

NAT2 基因(rs1799929)的慢乙酰化基因型(TT)和 NAT2 酶的低血清水平可能在白癜风的易感性和发病机制中发挥作用。

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