单核苷酸多态性rs2236313与汉族人寻常型白癜风临床表型的相关性研究

摘要

目的:确定染色体6q27区域内一个单核苷酸多态性(single nucleotide polymorphism,SNP)位点rs2236313与汉族人寻常型白癜风临床表型之间的相关性.方法:选取6458例寻常型白癜风患者和9766名正常对照的rs2236313的基因分型资料和临床资料,用χ2检验对各组间基因型和等位基因频率的分布进行比较.结果:rs2236313基因型频率和等位基因频率分布在病例组和对照组间存在统计学差异(P基因型=8.21×10-14,P等位基因=1.26×10-14).在早发和晚发患者、有伴发疾病和无伴发疾病患者之间,rs2236313等位基因频率分布存在统计学差异(P<0.05).在有和无家族史患者、轻与中重度患者之间其分布均无统计学差异(P>0.05).结论:rs2236313与汉族人寻常型白癜风发病易感性相关,且与发病年龄、伴发疾病相关,与家族史、病情严重程度无关.%Objective: To determine the potential association of SNP (single nucleotide polymorphism) rs2236313 in 6q27 and some phenotypes of generalized vitiligo in Chinese Han population. Methods: The genotyping data (CC, CT, TT) and clinical data in 6,458 patients with vitiligo and 9,766 controls from our previous genome- wide association study (GWAS) were selected. Chi square test was used to compare genotype or allele frequency distribution among the groups. Results: Genotype and allele frequencies of SNP rs2236313 were statistically significant different between the cases and controls (Pgenotype =8.21 × 10-14, Pallele = 1.26× 10-14, respectively). The allele frequency of rs2236313 was also significantly different between the patients with early - onset and with late- onset of the disease ( P = 0.04), and between cases with and without co - morbidities ( P = 0.04 ). However, there was no significance between the patients with positive and negative family history, and between mild and moderate/severe vitiligo (all P ＞ 0.05). Conclusion: rs2236313 was associated with vitiligo in Chinese Han population, and associated with early onset and with co- morbidities. However, there was no association between disease severity, clinical subtypes and family history.