河南汉族ADAM33基因单核苷酸多态性与瘢痕疙瘩相关性研究  

Association between ADAM33 gene polymorphism and keloid in Chinese Han population in Henan

作　　者：曾伟良 王伟[1,2] 郭丽丽[1,2] 翟晓梅[1,2] Zeng Weiliang;Wang Wei;Guo Lili;Zhai xiaomei(Department of Plastic Surgery,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China;The Scar Center of Zhengzhou University,Zhengzhou 450052,China)

机构地区：[1]郑州大学第一附属医院整形外科,450052 [2]郑州大学瘢痕研究中心,450052

出　　处：《中华医学美学美容杂志》2020年第4期285-289,I0001,共6页Chinese Journal of Medical Aesthetics and Cosmetology

基　　金：河南省科技厅重点研发与推广专项(182102310086)。

摘　　要：目的探讨解整合素-金属蛋白酶33(ADAM33)基因单核苷酸多态性与河南汉族瘢痕疙瘩患者的相关性,从基因水平对瘢痕疙瘩的预防及治疗提供理论依据。方法2018年3月至2019年3月,郑州大学第一附属医院整形外科收治瘢痕疙瘩患者84例,男39例,女45例,年龄4~75(30.42+19.46)岁;增生性瘢痕患者78例作为对照组,男43例,女35例,年龄3~81(27.74+18.43)岁。选取ADAM33基因上3个单核苷酸多态性位点,用Sequenom MassARRAY系统进行基因分型检测,比较各位点基因型和等位基因频率差异性。结果瘢痕疙瘩组与增生性瘢痕组ADAM33基因rs3918394(L1)、rs574174(ST+7)位点基因型分布符合Hardy-Weinberg遗传平衡定律(P>0.05);rs597980(ST+5)位点基因型分布不符合Hardy-Weinberg遗传平衡定律(χ^2=6.499,P<0.05);L1位点基因型频率、等位基因频率组间差异有统计学意义(P<0.05),ST+7位点基因型频率、等位基因频率组间差异无统计学意义(P>0.05);L1位点GG基因型及G等位基因组间差异有统计学意义(χ^2=6.387、6.117,均P<0.05);ST+7位点各基因型及各等位基因组间差异无统计学意义(P>0.05);ST+7与L1位点间存在着弱连锁不平衡;瘢痕疙瘩组Hap2(CA)显著低于增生性瘢痕组(χ^2=6.752,P<0.05)。结论ADAM33基因L1位点可能与河南汉族瘢痕疙瘩患者易感性相关,L1位点GG基因型及G等位基因是瘢痕疙瘩发生的危险因素。ADAM33基因可能存在特异性瘢痕疙瘩易感性单体型或保护性单体型。Objective To investigate the association between the polymorphism in a disintegrin and metalloprotease 33(ADAM 33)gene and keloid in the Chinese Han population from Henan Province.It may provide a new theoretical basis for the prevention and treatment of keloids at the genetic level.Methods There were 84 patients with keloid and 78 patients with hypertrophic scar in this group.We selected 3 SNPs in ADAM33 gene and detected the sample genotypes by Mass ARRAY system to compare genotype and allele frequency differences at each locus.Results There were no significant differences in gender and age of two groups(P>0.05).The genotypes of 3918394(L1)and rs574174(ST+7)locus in the two groups of ADAM33 gene were consistent with the Hardy-Weinberg genetic equilibrium law(P>0.05),while the genotypes of rs597980(ST+5)locus in the two groups of ADAM33 gene were not consistent with the Hardy-Weinberg genetic equilibrium law.There was a significant difference of genotypes or alleles in L1 locus between keloid and hypertrophic scar groups(P<0.05).No significant differences were detected of genotypes or alleles in ST+7 locus between two groups(P>0.05).In addition,there was a significantly difference of GG genotype and G allele between keloid and hypertrophic scar groups(χ^2=6.387、6.117,all P<0.05).There was no significantly difference of all genotypes and alleles in ST+7 locus between two groups(P>0.05).There was weak linkage disequilibrium between ST+7 and L1 locus in ADAM33 gene.Haplotype analysis showed that haplotype Hap2(CA)in keloid group was much lower than hypertrophic scar group(χ^2=6.752,P<0.05).Conclusions The polymorphism of the L1 locus in the ADAM33 gene may have significant associations with keloid in the Chinese Han population from Henan Province,while the ST+7 locus may have no significant associations with that.The GG genotype and G allele of L1 locus is a risk factor for keloids and increases the risk of keloids.The susceptible and protective haplotypes of keloid may exist in Chinese Han population from Hena

关 键 词：瘢痕疙瘩 多态现象 单核苷酸 汉族 ADAM33基因 

分 类 号：R622[医药卫生—整形外科]