| Background: Keloid is the hyperscarring caused by abnormal accumulation of collagen after skin injury.It is a common disease in the field of Department of dermatology。Keloid often occurs in the sternal region,it can also be seen in the shoulder,face,neck and ear lobes at the course of chronic persistent,seriously affect the patient’s appearance,image and self evaluation,thereby affecting the mental health of the patient in a large extent,to the family and society a heavy burden.At present,the exact pathogenesis of keloid is not clear,which caused by the common interaction such as genetic factors,immune factors,environmental factors.The research of keloid in China is obviously lagging behind other common and complicated dermatosis,and there are still many gaps in the research of pathogenesis and diagnosis and treatment technology.With the successful development of high-throughput biochip technology,associative analysis methods have been used to screen susceptibility genes for keloids and unprecedented achievements have been achieved.Nakashima et al.(2010)found that 15q21.3 was significantly associated with the incidence of keloids in the Japanese population.The susceptibility genes of complex diseases have certain ethnic differences and genetic heterogeneity.Whether these regions are related to the Chinese population needs to be further verified in the Chinese population.Objective: Based on the keloid-associated analysis of previous Japanese population,the Sequenom i Plex platform was used to genotype rs2271289 in SNPs at 15q21.3 in 309 keloid patients and 1080 healthy people,and the genetic variation in chromosome 15q21.3 was explored.Whether keloids are associated with susceptibility in Chinese Han population,and the correlation between genotypes and phenotypes is discussed in one step.Methods: In this study,all the 309 keloid patients and 1080 healthy control subjects who were included in the study were Han Chinese.The rs2271289 was genotyped by the Sequenom Mass Array technology platform.The clinical phenotypic stratification was further analyzed based on family history,skin lesion severity and lesion type.Allele and genotype distribution frequencies between control and case groups were analyzed and compared using PLINK 1.07 and SPSS 20.0 software,respectively.Value(odds ratio),P value,and 95% CI(95% confidence interval).We used α=0.05 as a statistically significant criterion for the analysis of the association between the alleles of chromosome 15q21.3(rs2271289)among the case groups and between the case group and the control group.Results: 1.The research team used the Sequenom i Plex platform to complete a Han keloid susceptibility gene association analysis study and found that there was a susceptibility relationship between 15q21.3(rs2271289 located in NEDD4,OR=1.63,95% CI: 1.24 to 2.10,P=3.27E-04).2.The stratified analysis found that the frequency of rs2271289 allele was significantly higher in the family history-positive and family-negative-negative patient groups than in the control group(P<0.05);The frequency of alleles in the severe group and the moderate-mild group was compared with that in the control group.The frequency distribution of the rs2271289 allele in the severe group was significantly different.It was statistically significant.(OR=1.77,P=1.95E-04);The difference in the frequency distribution of rs2271289 allele was statistically significant in the multiple-group patients compared with the control group in the single-hair patient group and the multiple-hair patient group.(OR=1.73,P=1.52E-03).Conclusion: In this case control association study,it was found that the rs2271289 SNP site on the NEDD4 gene in chromosome 15q21.3 was associated with susceptibility to keloids in the Han nationality,and the protein encoded by the NEDD4 gene involved in the pathogenesis of keloids may be affected by this base.Impact.The NEDD4 polymorphism rs2271289 affects the severity of keloids in Han Chinese and has nothing to do with family history. |
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