Onay Huseyin, Pehlivan Mustafa, Alper Sibel, Ozkinay Ferda, Pehlivan Sacide
Department of Medical Genetics, Faculty of Medicine, Ege Universitesi, 35100 Bornova Izmir, Turkey.
Eur J Dermatol. 2007 Mar-Apr;17(2):146-8. doi: 10.1684/ejd.2007.0128. Epub 2007 Mar 2.
Mannose binding lectin (MBL) is a calcium dependent lectin that causes predisposition to infections and autoimmune diseases. This study aimed to examine the presence of any association between MBL2 gene variants and vitiligo. Codon 54 (allele B) and codon 57(allele C) polymorphisms in the exon 1 of the MBL2 gene were investigated in samples belonged to 50 healthy controls and 40 patients diagnosed as vitiligo. The PCR-RFLP method was used to investigate the polymorphisms in the MBL2 gene. Codon 57 polymorphism was not detected in any of the subjects from either group. The frequencies of low level MBL2 genotypes for codon 54 (AB and BB) polymorphisms were found to be significantly higher in the patient group compared to controls (37.5% vs. 6%) (p < 0.001). B allele frequency was also significantly higher in the patient group (20%) compared to the control group (3%). These results suggested that codon 54 polymorphism in the MBL2 gene may play a role in susceptibility to vitiligo.
甘露糖结合凝集素(MBL)是一种钙依赖性凝集素,它会使人易患感染和自身免疫性疾病。本研究旨在检测MBL2基因变异与白癜风之间是否存在关联。在50名健康对照者和40名被诊断为白癜风的患者样本中,研究了MBL2基因外显子1中的密码子54(等位基因B)和密码子57(等位基因C)多态性。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法研究MBL2基因中的多态性。在两组的任何受试者中均未检测到密码子57多态性。发现密码子54(AB和BB)多态性的低水平MBL2基因型频率在患者组中显著高于对照组(37.5%对6%)(p<0.001)。患者组的B等位基因频率(20%)也显著高于对照组(3%)。这些结果表明,MBL2基因中的密码子54多态性可能在白癜风易感性中起作用。