Li Kai, Li Chunying, Gao Lin, Yang Li, Li Miao, Liu Ling, Zhang Zhengdong, Liu Yufeng, Gao Tianwen
Department of Dermatology, Xijing Hospital, Fourth Military Medical University, Xi'an 710032, China.
Arch Dermatol Res. 2009 Oct;301(9):681-7. doi: 10.1007/s00403-008-0920-8. Epub 2008 Dec 28.
Vitiligo is an acquired hypomelanotic skin disorder resulting from the loss of functional melanocytes. The COMT-158 polymorphism can reduce COMT enzyme activity and may thus lead to the overproduction of toxic radicals in the melanocyte microenvironment. To determine whether this polymorphism in the COMT gene is associated with an increased risk of vitiligo in Chinese populations, we used a polymerase chain reaction sequence-specific primer (PCR-SSP) technique to determine the frequency of the polymorphism COMT-158 G > A in 749 vitiligo patients and 763 healthy controls. We found that compared to the COMT-158 GG genotype, the COMT-158 GA genotype (adjusted odds ratio [OR], 1.39; 95% confidence interval [CI], 1.13-1.72) and the combined GA + AA genotype (adjusted OR, 1.41; 95% CI, 1.15-1.74) were associated with an increased risk of generalized vitiligo. The association was more pronounced in patients with early-onset vitiligo (adjusted OR, 1.95; 95% CI, 1.45-2.60), those with a family history of vitiligo (adjusted OR, 3.84; 95% CI, 2.47-5.96), and female patients (adjusted OR, 1.74; 95% CI, 1.29-2.36). When we further clinically stratified the vitiligo patients according to their disease types, we found that the combined GA + AA genotype was associated with vitiligo vulgaris (adjusted OR, 1.31; 95% CI, 1.02-1.68), focal vitiligo (adjusted OR, 1.62; 95% CI, 1.17-2.25), and universal vitiligo (adjusted OR, 1.50; 95% CI, 0.98-2.30), but not with acrofacial vitiligo (adjusted OR, 1.53; 95% CI, 0.86-2.73) or segmental vitiligo (adjusted OR, 1.35; 95% CI, 0.72-2.51). In conclusion, this COMT gene polymorphism may have contributed to the etiology of vitiligo in our Chinese population. Larger population-based studies are required to verify our findings.
白癜风是一种后天性色素减退性皮肤病，由功能性黑素细胞缺失所致。儿茶酚-O-甲基转移酶（COMT）-158多态性可降低COMT酶活性，进而可能导致黑素细胞微环境中自由基过度产生。为确定COMT基因的这种多态性是否与中国人群患白癜风的风险增加相关，我们采用聚合酶链反应序列特异性引物（PCR-SSP）技术，测定了749例白癜风患者和763例健康对照中COMT-158 G>A多态性的频率。我们发现，与COMT-158 GG基因型相比，COMT-158 GA基因型（校正比值比[OR]，1.39；95%置信区间[CI]，1.13-1.72）以及GA+AA合并基因型（校正OR，1.41；95% CI，1.15-1.74）与泛发性白癜风风险增加相关。这种关联在早发型白癜风患者（校正OR，1.95；95% CI，1.45-2.60）、有白癜风家族史的患者（校正OR，3.84；95% CI，2.47-5.96）和女性患者（校正OR，1.74；95% CI，1.29-2.36）中更为明显。当我们根据疾病类型对白癜风患者进行进一步临床分层时，我们发现GA+AA合并基因型与寻常型白癜风（校正OR，1.31；95% CI，1.02-1.68）、局限性白癜风（校正OR，1.62；95% CI，1.17-2.25）和泛发型白癜风（校正OR，1.50；95% CI，0.98-2.30）相关，但与肢端颜面型白癜风（校正OR，1.53；95% CI，0.86-2.73）或节段型白癜风（校正OR，1.35；95% CI，0.72-2.51）无关。总之，这种COMT基因多态性可能在我国人群白癜风的病因中起作用。需要开展更大规模的基于人群的研究来验证我们的发现。
