Srivastava Daya Shankar Lal, Aggarwal Kamal, Singh Gajendra
Department of BTMM and Biochemistry, PGIMS, Pt. B.D. Sharma University of Health Sciences, Rohtak, Haryana, India.
Department of Skin and VD, PGIMS, Pt. B.D. Sharma University of Health Sciences, Rohtak, Haryana, India.
Indian J Dermatol. 2020 May-Jun;65(3):173-177. doi: 10.4103/ijd.IJD_388_18.
-acetyltransferase-2 (NAT2) is a phase II xenobiotic enzyme that plays an important role against oxidative stress-mediated reactive oxygen species protection. Polymorphism in specific genotypes of NAT2 may lead to increase an imbalance in antioxidant systems and may influence the pathogenesis of vitiligo. We conducted this study to see the association between gene polymorphism and risk of vitiligo. We looked into whether single-nucleotide polymorphisms (SNP) at positions 857, 481 and 590 of the coding region of the gene play as a risk factor for vitiligo among north Indian people.
In this study, we assessed 100 patients with vitiligo and 160 healthy individuals as controls. Genomic DNA was extracted from human peripheral blood and polymerase chain reaction-restricted fragment length polymorphism was done to identify the single nucleotide polymorphism at positions 857, 481, and 590 of the coding region of the gene.
In this study, we observed a significant higher risk with slow acetylator genotypes of (OR = 2.85; 95% CI = 1.68-4.84, value < 0.001) for the vitiligo. Furthermore, in the association between NAT2 acetylator genotypes with percentage of body surface area (BSA) of disease, we observed that slow acetylator genotypes of NAT2 has significant higher risk with low grade of disease (1%-10% >11%-30% >30% of BSA).
A major limitation of this study was the small sample size and warrants further investigation on a large epidemiological study to confirm these findings.
Our preliminary data indicate that NAT2 slow acetylator genotype exhibits significant association for the risk of vitiligo, especially in disease predisposition and initiation.
N-乙酰基转移酶2(NAT2)是一种II期外源性物质酶,在对抗氧化应激介导的活性氧保护中起重要作用。NAT2特定基因型的多态性可能导致抗氧化系统失衡加剧,并可能影响白癜风的发病机制。我们开展这项研究以观察NAT2基因多态性与白癜风风险之间的关联。我们研究了NAT2基因编码区第857、481和590位的单核苷酸多态性(SNP)是否为印度北部人群患白癜风的危险因素。
在本研究中,我们评估了100例白癜风患者和160名健康个体作为对照。从人外周血中提取基因组DNA,并进行聚合酶链反应-限制性片段长度多态性分析,以鉴定NAT2基因编码区第857、481和590位的单核苷酸多态性。
在本研究中,我们观察到NAT2慢乙酰化基因型患白癜风的风险显著更高(OR = 2.85;95% CI = 1.68 - 4.84,P值< 0.001)。此外,在NAT2乙酰化基因型与疾病体表面积(BSA)百分比之间的关联中,我们观察到NAT2慢乙酰化基因型在疾病程度较低(BSA的1%-10% > 11%-30% > 30%)时风险显著更高。
本研究的一个主要局限性是样本量小,需要进一步开展大型流行病学研究以证实这些发现。
我们的初步数据表明,NAT2慢乙酰化基因型与白癜风风险显著相关,尤其是在疾病易感性和发病方面。