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诱导型一氧化氮合酶启动子多态性:埃及人白癜风的一种分子易感性标志物。

Inducible nitric oxide synthase promoter polymorphism: a molecular susceptibility marker for vitiligo in Egyptians.

作者信息

Zayed Amira A, Khorshied Mervat M, Hussein Marwa F

机构信息

Faculty of Medicine, Kasr Al Ainy University Hospital, Cairo, Egypt.

出版信息

Int J Dermatol. 2015 Jun;54(6):675-9. doi: 10.1111/ijd.12716. Epub 2014 Dec 29.

Abstract

BACKGROUND

Vitiligo is a depigmentary disease characterized by loss of melanocytes from the skin and mucous membranes. The pathomechanism of vitiligo is still obscure. Inducible nitric oxide synthase (iNOS) produces very large amounts of nitric oxide (NO). Promotor polymorphisms within iNOS gene have been reported to be associated with overproduction of NO, which may induce melanocyte destruction.

AIM

The current study aimed at investigating the possible association between iNOS gene polymorphism (-954 G/C and Ex 16+14 C/T) and susceptibility to non-segmental vitiligo in a cohort of Egyptians.

METHODS

The study was conducted on 200 participants: 100 patients with vitiligo and 100 aged matched healthy controls. Polymerase chain reaction using restriction fragment length polymorphism method (PCR-RFLP) was used to identify the genotypes.

RESULTS

Our results showed that iNOS -954 G/C heteromutant genotype (GC) was associated with increased risk of vitiligo (OR = 3.35, 95% CI = 1.77-6.33), and the risk increased when confined to females (OR = 7.4, 95% CI = 2.80-19.40). iNOS Ex 16 + 14 C/T heteromutant genotype (CT) conferred two folds increased risk of vitiligo (OR = 2.47, 95% CI = 1.39-4.37). Furthermore, the risk of vitiligo increased when the heteromutant genotype of iNOS -954 G/C (GC) was co-inherited with the wild genotype of iNOS Ex16+14 C/T (CC) (OR = 23.2, 95% CI = 3.04-177.21).

CONCLUSIONS

Inducible nitric oxide synthase -954 G/C and Ex 16+14 C/T might be considered as genetic susceptibility markers for non-segmental vitiligo among Egyptians.

摘要

背景

白癜风是一种色素脱失性疾病,其特征为皮肤和黏膜黑素细胞缺失。白癜风的发病机制仍不清楚。诱导型一氧化氮合酶(iNOS)可产生大量一氧化氮(NO)。据报道,iNOS基因启动子多态性与NO过度产生有关,这可能会导致黑素细胞破坏。

目的

本研究旨在调查埃及人群中iNOS基因多态性(-954 G/C和Ex 16+14 C/T)与非节段型白癜风易感性之间的可能关联。

方法

该研究纳入200名参与者:100例白癜风患者和100名年龄匹配的健康对照。采用聚合酶链反应-限制性片段长度多态性方法(PCR-RFLP)鉴定基因型。

结果

我们的结果显示,iNOS -954 G/C杂合突变基因型(GC)与白癜风风险增加相关(OR = 3.35,95%CI = 1.77-6.33),且仅限于女性时风险增加(OR = 7.4,95%CI = 2.80-19.40)。iNOS Ex 16 + 14 C/T杂合突变基因型(CT)使白癜风风险增加两倍(OR = 2.47,95%CI = 1.39-4.37)。此外,当iNOS -954 G/C杂合突变基因型(GC)与iNOS Ex16+14 C/T野生基因型(CC)共同遗传时,白癜风风险增加(OR = 23.2,95%CI = 3.04-177.21)。

结论

诱导型一氧化氮合酶-954 G/C和Ex 16+14 C/T可能被视为埃及人群中非节段型白癜风的遗传易感性标志物。

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