OSMR基因突变与原发性皮肤淀粉样变174例的临床表型分析

Correlation Between Gene OSMR Mutation and Clinical Phenotype in 174 Cases with Primary Cutaneous Amyloidosis

目的探讨OSMR基因突变与原发性皮肤淀粉样变(PCA)临床表型的相关性。方法收集174例PCA患者和52例正常对照组的外周血进行OSMR基因11~15号外显子的一代测序,并对其临床资料进行统计、分析。结果 174例PCA患者中,35.63%的患者有家族史,64.37%的患者无家族史,平均发病年龄为(31±12.69)岁,20~29岁为其发病的高峰年龄段(31.03%);苔藓样皮肤淀粉样变(LA)(75/56)与斑状皮肤淀粉样变(MA)(16/27)中的男女比例差异有统计学意义(P=3.51×10^-2);LA患者较MA患者更易伴发瘙痒(P=1.60×10^-2);174例PCA患者中,36.78%有OSMR基因突变,其中OSMR基因p.Gly513Asp突变位点占总突变的84.38%,为高频突变位点;相对于无OSMR基因突变的PCA患者的发病年龄(32.63±13.50)岁来说,有OSMR基因突变的PCA患者的发病年龄(28.58±10.90)岁更低(P=4.30×10^-2);对有OSMR基因突变(包括p.Gly513Asp、p.Gly513Asp纯合位点、p.Gly513Asp杂合位点等)与无OSMR基因突变的PCA患者的临床资料进行比较分析发现,家族史(P<1.00×10^-3)、性别(P=4.20×10^-2)、皮损范围(P=1.50×10^-2)差异具有统计学意义;对有OSMR基因p.Gly513Asp位点突变(纯合突变及杂合突变)与无OSMR基因突变的PCA患者的临床资料进行比较分析,发现家族史(P=1.00×10^-3)、性别(P=0.02)、皮损范围(P=6.00×10^-3)差异具有统计学意义;有OSMR基因突变与无OSMR基因突变相比,患者的临床分型(LA与MA)、瘙痒比例差异无统计学意义(P>0.05)。结论 OSMR基因突变(p.Gly513Asp纯合位点)与PCA患者的家族史、性别、皮损范围、发病年龄具有相关性。

Objective To investigate the associations among gene OSMR and clinical phenotype in patients with primary cutaneous amyloidosis(PCA).Methods The peripheral blood samples from 174 patients and 52 healthy controls were collected for Sanger sequencing of exons 11〜15 of gene OSMR,and the clinical data were analyzed.Results Among 174 patients with PC A,35.63%had family history,64.37%had no family history,the average age of onset was(31±12.69)years old,and the peak age group of onset was 20 to 29 years old(31.03%).The proportion of men and women in patients with lichen amyloidosis(LA)(75/56)and macular amyloidosis(MA)(16/27)had statistical difference(P=3.5×10^-2).Patients with LA were more likely to have pruritus than those with MA(P=1.6×10^-2).Among 174 PCA patients,36.78%had gene OSMR mutation,84.38%were gene OSMR p.Gly513Asp mutation site.Compared with the onset age group of without gene OSMR mutation(32.63±13.50),the onset age of PCA patients with gene OSMR mutation(28.58±10.90)was younger(P=4.30×10^-2).The family history(P<1.00×10^-3),gender(P=4.20×10^-2),lesion range(P=1.50×10^-2)were found to be significantly different when comparing the clinical data between PCA patients with OSMR mutations(including p.Gly513Asp homozygous site,p.Gly513Asp heterozygous s让e,etc.)and those without OSMR mutations.Meanwh-ile,family history(P=1.00×10^-3),gender(P=0.02),lesion range(P=6.00×10^-3)were found to be significantly different by comparing the clinical data from PCA patients with OSMR mutation at p.Gly513Asp site(p.Gly513Asp homozygous site and p.Gly513Asp heterozygous site)and those without OSMR mutation.There was no significant difference in clinical typing(lichen amyloidosis and macular amyloidosis)and pruritus rate between PCA patients with gene OSMR mutation and gene non-OSMR mutation(P>0.05).Conclusion Gene OSMR mutation(p.Gly513Asp homozygous site mutation)is correlated with family history,gender,lesion range and age of onset of PCA.