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Indian J Dermatol. 2010;55(1):29-32. doi: 10.4103/0019-5154.60347.
2
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.TYR 基因变异与泛发性白癜风自身免疫易感性相关位点研究。
N Engl J Med. 2010 May 6;362(18):1686-97. doi: 10.1056/NEJMoa0908547. Epub 2010 Apr 21.
3
Association of the CTLA4 gene with Graves' disease in the Chinese Han population.CTLA4 基因与中国汉族 Graves 病的相关性研究。
PLoS One. 2010 Mar 23;5(3):e9821. doi: 10.1371/journal.pone.0009821.
4
Matrix Metallopeptidase 2 Gene Polymorphism is Associated with Obesity in Korean Population.基质金属蛋白酶 2 基因多态性与韩国人群肥胖有关。
Korean J Physiol Pharmacol. 2008 Jun;12(3):125-9. doi: 10.4196/kjpp.2008.12.3.125. Epub 2008 Jun 30.
5
Association of the CD28/CTLA4/ICOS polymorphisms with susceptibility to rheumatoid arthritis.CD28/CTLA4/ICOS 多态性与类风湿关节炎易感性的关联。
Clin Chem Lab Med. 2010 Mar;48(3):345-53. doi: 10.1515/CCLM.2010.074.
6
Cytotoxic T lymphocyte antigen-4 Ala17 polymorphism is a genetic marker of autoimmune adrenal insufficiency: Italian association study and meta-analysis of European studies.细胞毒性 T 淋巴细胞相关抗原-4 Ala17 多态性是自身免疫性肾上腺皮质功能不全的遗传标志物:意大利关联研究和欧洲研究的荟萃分析。
Eur J Endocrinol. 2010 Feb;162(2):361-9. doi: 10.1530/EJE-09-0618. Epub 2009 Nov 2.
7
Polymorphisms in the CD28/CTLA4/ICOS genes: role in malignant melanoma susceptibility and prognosis?CD28/CTLA4/ICOS 基因多态性:在恶性黑色素瘤易感性和预后中的作用?
Cancer Immunol Immunother. 2010 Feb;59(2):303-12. doi: 10.1007/s00262-009-0751-2.
8
Vitiligo update.白癜风最新进展。
Semin Cutan Med Surg. 2009 Jun;28(2):86-92. doi: 10.1016/j.sder.2009.04.008.
9
Clinical associations of the genetic variants of CTLA-4, Tg, TSHR, PTPN22, PTPN12 and FCRL3 in patients with Graves' disease.在 Graves 病患者中,CTLA-4、Tg、TSHR、PTPN22、PTPN12 和 FCRL3 基因变异的临床关联。
Clin Endocrinol (Oxf). 2010 Feb;72(2):248-55. doi: 10.1111/j.1365-2265.2009.03617.x. Epub 2009 Apr 27.
10
Frontiers and controversies in the pathobiology of vitiligo: separating the wheat from the chaff.白癜风病理生物学的前沿与争议:去伪存真
Exp Dermatol. 2009 Jul;18(7):583-5. doi: 10.1111/j.1600-0625.2008.00826.x. Epub 2009 Mar 6.

韩国人群中CD28、CTLA4和ICOS基因多态性与非节段型白癜风的关联研究。

Association study between polymorphisms of CD28, CTLA4 and ICOS and non-segmental vitiligo in a Korean population.

作者信息

Shin Min Kyung, Im So Hee, Park Hae Jeong, Kim Su Kang, Yim Sung Vin, Chung Joo-Ho, Lee Mu-Hyoung

机构信息

Departments of Dermatology.

出版信息

Exp Ther Med. 2011 Nov;2(6):1145-1149. doi: 10.3892/etm.2011.326. Epub 2011 Aug 3.

DOI:10.3892/etm.2011.326
PMID:22977635
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3440817/
Abstract

CD28 molecule (CD28), cytotoxic T-lymphocyte-associated protein 4 (CTLA4) and inducible T-cell co-stimulator (ICOS) are important regulators of the immune system. Vitiligo, a common autoimmune skin disorder, is characterized by a loss of melanocytes that results in cutaneous white patches. The aim of the present study was to determine whether or not polymorphisms of the CD28, CTLA4 and ICOS genes are associated with non-segmental vitiligo in a Korean population. To determine the relationships between CD28, CTLA4 and ICOS genes and vitiligo, four single nucleotide polymorphisms (SNPs) associated with the CD28 gene [rs1879877 (promoter, -1198), rs3181097 (promoter, -1059), rs2140148 (intron 1) and rs3116494 (intron 2)], two SNPs associated with the CTLA4 gene [rs231777 (intron 1) and rs231779 (intron 1)] and five SNPs associated with the ICOS gene [rs4270326 (intron 3), rs11571314 (intron 3), rs10183087 (3' untranslated region; UTR), rs4404254 (3'UTR) and rs1559931 (3'UTR)] were selected. Two hundred and thirty-one patients with non-segmental vitiligo (NSV) and 405 healthy controls were enrolled. Genotyping was performed using the restriction fragment length polymorphism technique and direct sequencing. SNPStats, Haploview 4.2 and SPSS 18.0 were used to conduct the analyses. Significant differences were noted between CTLA4 (p<0.05) and NSV, but not CD28 and ICOS (p>0.05). However, these associations disappeared after Bonferroni correction. The CD28, CTLA4 and ICOS genes may not be associated with NSV.

摘要

CD28分子(CD28)、细胞毒性T淋巴细胞相关蛋白4(CTLA4)和诱导性T细胞共刺激分子(ICOS)是免疫系统的重要调节因子。白癜风是一种常见的自身免疫性皮肤病,其特征是黑素细胞缺失,导致皮肤出现白色斑块。本研究的目的是确定CD28、CTLA4和ICOS基因的多态性是否与韩国人群中的非节段性白癜风相关。为了确定CD28、CTLA4和ICOS基因与白癜风之间的关系,选择了与CD28基因相关的4个单核苷酸多态性(SNP)[rs1879877(启动子,-1198)、rs3181097(启动子,-1059)、rs2140148(内含子1)和rs3116494(内含子2)]、与CTLA4基因相关的2个SNP[rs231777(内含子1)和rs231779(内含子1)]以及与ICOS基因相关的5个SNP[rs4270326(内含子3)、rs11571314(内含子3)、rs10183087(3'非翻译区;UTR)、rs4404254(3'UTR)和rs1559931(3'UTR)]。纳入了231例非节段性白癜风(NSV)患者和405例健康对照。使用限制性片段长度多态性技术和直接测序进行基因分型。使用SNPStats、Haploview 4.2和SPSS 18.0进行分析。CTLA4(p<0.05)与NSV之间存在显著差异,但CD28和ICOS与NSV之间无显著差异(p>0.05)。然而,经过Bonferroni校正后,这些关联消失了。CD28、CTLA4和ICOS基因可能与NSV无关。