Dermatology and Andrology Department, Faculty of Medicine, Menoufia University, Shebin Elkom, Egypt.
Clinical Pathology Department, Medical Division, National Research Centre, Cairo, Egypt.
J Immunoassay Immunochem. 2024 Nov;45(6):518-528. doi: 10.1080/15321819.2024.2415898. Epub 2024 Oct 15.
Although numerous mechanisms are involved in vitiligo pathogenesis, few studies correlate N-acetyltransferase 2 to this disease.
To assess the N-acetyltransferase 2 (rs1799929) gene and its serum levels in vitiligo patients.
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.
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).
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.
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。
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。
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)。
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)。
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。