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Liver X Receptor-α polymorphisms (rs11039155 and rs2279238) are associated with susceptibility to vitiligo.肝脏X受体α基因多态性(rs11039155和rs2279238)与白癜风易感性相关。
Meta Gene. 2016 Feb 10;8:33-6. doi: 10.1016/j.mgene.2016.02.001. eCollection 2016 Jun.
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Exp Dermatol. 2010 Jan;19(1):62-4. doi: 10.1111/j.1600-0625.2009.00940.x. Epub 2009 Jul 23.
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本文引用的文献

1
Melanocytes as instigators and victims of oxidative stress.黑素细胞既是氧化应激的始动者也是受害者。
J Invest Dermatol. 2014 Jun;134(6):1512-1518. doi: 10.1038/jid.2014.65. Epub 2014 Feb 27.
2
Liver X receptor activation inhibits melanogenesis through the acceleration of ERK-mediated MITF degradation.肝 X 受体激活通过加速 ERK 介导的 MITF 降解来抑制黑色素生成。
J Invest Dermatol. 2013 Apr;133(4):1063-71. doi: 10.1038/jid.2012.409. Epub 2012 Dec 6.
3
Altered levels of LXR-α: crucial implications in the pathogenesis of vitiligo.LXR-α 水平的改变:在白癜风发病机制中的关键意义。
Exp Dermatol. 2012 Nov;21(11):853-8. doi: 10.1111/exd.12017.
4
Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population.关联分析鉴定出中国人种中三个白癜风易感性基因座。
J Invest Dermatol. 2013 Feb;133(2):403-10. doi: 10.1038/jid.2012.320. Epub 2012 Sep 6.
5
Melanocytorrhagy and apoptosis in vitiligo: connecting jigsaw pieces.白癜风中的黑素细胞破坏与凋亡:拼凑拼图
Indian J Dermatol Venereol Leprol. 2012 Jan-Feb;78(1):19-23. doi: 10.4103/0378-6323.90942.
6
Recent progress in the genetics of generalized vitiligo.广义白癜风遗传学的最新进展。
J Genet Genomics. 2011 Jul 20;38(7):271-8. doi: 10.1016/j.jgg.2011.05.005. Epub 2011 Jun 12.
7
Liver X receptor α gene polymorphisms and variable cardiovascular outcomes in patients treated with antihypertensive therapy: results from the INVEST-GENES study.肝 X 受体 α 基因多态性与接受抗高血压治疗的患者心血管结局的变化:来自 INVEST-GENES 研究的结果。
Pharmacogenet Genomics. 2011 Jun;21(6):333-40. doi: 10.1097/FPC.0b013e3283452fec.
8
Altered levels of Ets-1 transcription factor and matrix metalloproteinases in melanocytes from patients with vitiligo.白癜风患者黑素细胞中 Ets-1 转录因子和基质金属蛋白酶水平的改变。
Br J Dermatol. 2011 Aug;165(2):285-91. doi: 10.1111/j.1365-2133.2011.10324.x.
9
Genetic variation within the NR1H2 gene encoding liver X receptor β associates with insulin secretion in subjects at increased risk for type 2 diabetes.NR1H2 基因内的遗传变异与 2 型糖尿病高危人群的胰岛素分泌有关。
J Mol Med (Berl). 2011 Jan;89(1):75-81. doi: 10.1007/s00109-010-0687-1. Epub 2010 Nov 2.
10
Liver X receptor expression in human melanocytes, does it have a role in the pathogenesis of vitiligo?肝 X 受体在人黑素细胞中的表达,它在白癜风发病机制中起作用吗?
Exp Dermatol. 2010 Jan;19(1):62-4. doi: 10.1111/j.1600-0625.2009.00940.x. Epub 2009 Jul 23.

肝脏X受体α基因多态性(rs11039155和rs2279238)与白癜风易感性相关。

Liver X Receptor-α polymorphisms (rs11039155 and rs2279238) are associated with susceptibility to vitiligo.

作者信息

Agarwal Silky, Kaur Gurjinder, Randhawa Rohit, Mahajan Vikram, Bansal Rohit, Changotra Harish

机构信息

Department of Biotechnology and Bioinformatics, Jaypee University of Information Technology, Waknaghat, Solan 173 234, Himachal Pradesh, India.

Department of Dermatology, Venereology and Leprosy, Dr. Rajendra Prasad Government Medical College Kangra, Tanda 176 001, Himachal Pradesh, India.

出版信息

Meta Gene. 2016 Feb 10;8:33-6. doi: 10.1016/j.mgene.2016.02.001. eCollection 2016 Jun.

DOI:10.1016/j.mgene.2016.02.001
PMID:27014589
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4792900/
Abstract

Vitiligo is a complex genetic skin depigmentation disorder caused by the destruction of melanocyte from the lesional site. Liver X Receptor-α (LXR-α) expression is upregulated in the melanocytes from perilesional skin as compared to the normal skin of vitiligo patient suggesting its involvement in vitiligo pathogenesis. Polymorphisms in LXR-α have been associated with several diseases including cardiovascular disease, polycystic ovary syndrome, cancer, inflammatory bowel disease and diabetes. In this study, for the first time, we have investigated the association of LXR-α gene polymorphisms and risk of vitiligo. Sixty six vitiligo patients and 75 matched healthy control subjects who did not have any history of vitiligo or any other autoimmune disorder were recruited. The DNA isolated from patients and healthy controls was genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) for both rs11039155 (- 6 G > A) and rs2279238 (+ 1257 C > T) variants. Our data suggest significant association between the LXR-α gene polymorphisms and vitiligo susceptibility (rs11039155: odds ratio (OR) = 1.99, 95% CI = 1.07-3.71, p = 0.03; rs2279238: OR = 1.70, 95% CI = 1.06-2.73, p = 0.027). Our results provide an evidence that the LXR-α - 6A and + 1257T alleles contribute to risk of vitiligo in North Indian population and highlight the importance of this gene in the vitiligo pathogenesis.

摘要

白癜风是一种复杂的遗传性皮肤色素脱失性疾病,由皮损部位黑素细胞的破坏引起。与白癜风患者的正常皮肤相比,肝X受体α(LXR-α)在皮损周围皮肤的黑素细胞中表达上调,提示其参与白癜风的发病机制。LXR-α基因多态性与多种疾病相关,包括心血管疾病、多囊卵巢综合征、癌症、炎症性肠病和糖尿病。在本研究中,我们首次调查了LXR-α基因多态性与白癜风风险的关联。招募了66例白癜风患者和75例匹配的健康对照者,这些对照者无白癜风病史或任何其他自身免疫性疾病史。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对患者和健康对照者分离的DNA进行rs11039155(-6G>A)和rs2279238(+1257C>T)两个位点的基因分型。我们的数据表明,LXR-α基因多态性与白癜风易感性之间存在显著关联(rs11039155:比值比(OR)=1.99,95%可信区间(CI)=1.07-3.71,p=0.03;rs2279238:OR=1.70,95%CI=1.06-2.73,p=0.027)。我们的结果提供了证据,表明LXR-α基因的-6A和+1257T等位基因增加了北印度人群患白癜风的风险,并突出了该基因在白癜风发病机制中的重要性。