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Association Analysis Revealed One Susceptibility Locus Associated With Vitiligo In The Chinese Han Population

Posted on:2019-05-10Degree:MasterType:Thesis
Country:ChinaCandidate:F FangFull Text:PDF
GTID:2394330545458560Subject:Department of Dermatology and Venereology
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Background Vitiligo is a common acquired or generalized skin depigmentation disease caused by the disappearance of melanocytes in the skin,but the mechanism is not yet clear and may be related to the interaction of immune,hereditary and acquired environment.GWAS is widely used in the field of vitiligo gene research.So far,there are many vitiligo-related genes and loci derived from GWAS studies.There are differences in vitiligo-related genes among different nations and races.In the European population,vitiligo-related genes/loci include 1p13.2(PTPN22,rs2476601),1p36.23(RERE,rs4908760),2q24.2(IFIH1,rs2111485),3q13.33(CD80,rs59374417),3q28(LPP,rs1464510),4p16.1(CLNK,rs16872571),6p21.32(C6orf10,BTNL2,rs7758128 BTNL2,HLA-DRA,rs3806156),8q24.22(SLA,rs853308),10p15.1(IL2RA,rs706779),10q25.3(CASP7,rs3814231)11p13(CD44,rs10768122),11q14.3(TYR,rs1393350)11q21(TY R,rs4409785),12q13.2(IKZF4,rs2456973),12q24.12(SH23,rs4766578)14q12(GZMB,rs8192917,rs2273844)15q13.1(OCA2,HERC2,rs1129038),16q24.3(MC1R,rs9926296),19p13.3(TICAM1,rs6510827),21q22.3(UBASH3A,rs11203203),22q13.1(C1QTNF6,rs229527),22q13.2(TOB2,rs4822024)? In the Chinese Han population,vitiligo-related genes/loci include 3q28(LPP,rs9851967)11q23.3(CXCR5,DDX6 rs638893)12q13.2(PMEL,IKZF4,rs10876864)?Recent studies have found some new risk loci in the European and American patients with vitiligo,including rs6583331,rs41342147,rs1031034,rs35161626,rs6059655,rs231725,rs6012953,rs12421615,rs16843742,rs8083511,rs4807000,rs11079035,rs4308124,rs78037977,but these loci have not been found in Chinese Han patients with vitiligo.Therefore,we validated these loci in Chinese Han population with vitiligo to study which of these loci are related to Han population and provide a new clue for vitiligo research.Objective Our experiment will verify the newly discovered 14 sites and study whether these new sites are related to the incidence of vitiligo in the Han population and find a new breakthrough in the pathogenesis of vitiligo.Methods 1472 cases and 1472 healthy controls were collected,SNP primers were designed,and 14 SNPs were genotyped and output using Sequenom Mass Array.Plink 1.70 was used for the association study of SNP allele frequencies,using SPASS 17.0.Statistical analysis of data consolidation resultsResults rs6583331 is located in the region of chromosomal 3q29 FBXO45-NRROS gene,and the rs6583331 T allele is significantly associated with Chinese Han people with vitiligo(OR = 1.22,95% CI: 1.10-1.36,P = 0.0001);the rs6583331 T allele is in China.The Han nationality has a preponderance of dominant inheritance in the vitiligo population(P=0.0007).Conclusion The study revealed that rs6583331 is associated with vitiligo in the Chinese Han population.In order to further explore the relationship between rs6583331 and vitiligo laid the foundation.At the same time,it has brought new enlightenment to the study of the relationship between FBXO45-NRROS gene region and vitiligo.The molecular mechanism needs further experimental research.
Keywords/Search Tags:Vitiligo, SNP, genotype, FBXO45, NRROS
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