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白细胞介素4(-590)、血管紧张素转换酶(I)/(D)、趋化因子受体5(Delta32)、细胞毒性T淋巴细胞相关抗原4(+49)和白细胞介素1受体拮抗剂(第2内含子可变数目串联重复序列)基因多态性与白癜风的关联。

Association between IL4 (-590), ACE (I)/(D), CCR5 (Delta32), CTLA4 (+49) and IL1-RN (VNTR in intron 2) gene polymorphisms and vitiligo.

作者信息

Pehlivan Sacide, Ozkinay Ferda, Alper Sibel, Onay Huseyin, Yuksel Eda, Pehlivan Mustafa, Ozkinay Cihangir

机构信息

Gaziantep University Faculty of Medicine, Department of Medical Biology, 27060 Gaziantep, Turkey.

出版信息

Eur J Dermatol. 2009 Mar-Apr;19(2):126-8. doi: 10.1684/ejd.2008.0578. Epub 2009 Jan 7.

DOI:10.1684/ejd.2008.0578
PMID:19129082
Abstract

Vitiligo is a common skin disorder characterized by patterned depigmentation, because of a decrease of melanin pigment resulting from apparent melanocyte loss. The aim of this study was to investigate interleukin 4 (IL4), Angiotensin Converting Enzyme (ACE), C-C Chemocine Receptor 5 (CCR5), Cytotoxic T Lymphocyte-associated Antigen Receptor 4 (CTLA4) and Interleukin 1 Receptor Antagonist (IL1-RN) gene polymorphisms in 48 Turkish vitiligo patients and 50 healthy controls. Polymorphisms for the genes ACE insertion(I)/deletion(D), CCR5 (Delta32), IL1-RN (VNTR in intron 2) were detected by PCR methods. IL4 (-590) and CTLA4 (+49) gene polymorphisms were typed using PCR-RFLP methods. No significant differences in either the genotype distribution or allele frequencies of IL4, CCR5 and ACE gene polymorphisms were observed. GG genotype and G allele in CTLA4 genes were found to be significantly higher in vitiligo patients compared to the controls. (0.002, 0.000). CTLA4 (AA) and IL1-RN (1/5) genotypes and 5 allele frequency in the IL1-RN gene were found to be significantly lower in vitiligo patients compared to healthy controls (p: 0.014, 0.015, 0.016, respectively). As a conclusion, CTLA4 and IL1-RN genes might play roles in the genetic etiology of vitiligo.

摘要

白癜风是一种常见的皮肤疾病,其特征为出现图案状色素脱失,这是由于明显的黑素细胞丢失导致黑色素减少所致。本研究的目的是调查48例土耳其白癜风患者和50例健康对照者中白细胞介素4(IL4)、血管紧张素转换酶(ACE)、C-C趋化因子受体5(CCR5)、细胞毒性T淋巴细胞相关抗原受体4(CTLA4)和白细胞介素1受体拮抗剂(IL1-RN)基因的多态性。通过PCR方法检测ACE基因插入(I)/缺失(D)、CCR5(Delta32)、IL1-RN(内含子2中的VNTR)基因的多态性。使用PCR-RFLP方法对IL4(-590)和CTLA4(+49)基因多态性进行分型。未观察到IL4、CCR5和ACE基因多态性的基因型分布或等位基因频率有显著差异。与对照组相比,白癜风患者CTLA4基因的GG基因型和G等位基因明显更高(分别为0.002,0.000)。与健康对照组相比,白癜风患者CTLA4(AA)和IL1-RN(1/5)基因型以及IL1-RN基因中的5等位基因频率明显更低(p值分别为0.014、0.015、0.016)。结论是,CTLA4和IL1-RN基因可能在白癜风遗传病因中起作用。

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