The influence of population stratification on genetic markers associated with type 1 diabetes

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorGOMES, Karla Fabiana Brasil
dc.contributor.authorSANTOS, Aritania Sousa
dc.contributor.authorSEMZEZEM, Cintia
dc.contributor.authorCORREIA, Marcia Regina
dc.contributor.authorBRITO, Luciano Abreu
dc.contributor.authorRUIZ, Marcelo Ortega
dc.contributor.authorFUKUI, Rosa Tsuneshiro
dc.contributor.authorMATIOLI, Sergio Russo
dc.contributor.authorPASSOS-BUENO, Maria Rita
dc.contributor.authorSILVA, Maria Elizabeth Rossi da
dc.date.accessioned2017-04-07T15:13:37Z
dc.date.available2017-04-07T15:13:37Z
dc.date.issued2017
dc.description.abstractEthnic admixtures may interfere with the definition of type 1 diabetes (T1D) risk determinants. The role of HLA, PTPN22, INS-VNTR, and CTLA4 in T1D predisposition was analyzed in Brazilian T1D patients (n = 915), with 81.7% self-reporting as white and 789 controls (65.6% white). The results were corrected for population stratification by genotyping 93 ancestry informative markers (AIMs) (BeadXpress platform). Ancestry composition and structural association were characterized using Structure 2.3 and STRAT. Ethnic diversity resulted in T1D determinants that were partially discordant from those reported in Caucasians and Africans. The greatest contributor to T1D was the HLA-DR3/DR4 genotype (OR = 16.5) in 23.9% of the patients, followed by -DR3/DR3 (OR = 8.9) in 8.7%, -DR4/DR4 (OR = 4.7) in 6.0% and -DR3/DR9 (OR = 4.9) in 2.6%. Correction by ancestry also confirmed that the DRB1*09DQB1*0202 haplotype conferred susceptibility, whereas the DRB1*07-DQB1*0202 and DRB1*11DQB1*0602 haplotypes were protective, which is similar to reports in African-American patients. By contrast, the DRB1*07-DQB1*0201 haplotype was protective in our population and in Europeans, despite conferring susceptibility to Africans. The DRB1*10-DQB1*0501 haplotype was only protective in the Brazilian population. Predisposition to T1D conferred by PTPN22 and INS-VNTR and protection against T1D conferred by the DRB1*16 allele were confirmed. Correcting for population structure is important to clarify the particular genetic variants that confer susceptibility/protection for T1D in populations with ethnic admixtures.
dc.description.indexMEDLINE
dc.identifier.citationSCIENTIFIC REPORTS, v.7, article ID 43513, 10p, 2017
dc.identifier.doi10.1038/srep43513
dc.identifier.issn2045-2322
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/18994
dc.language.isoeng
dc.publisherNATURE PUBLISHING GROUP
dc.relation.ispartofScientific Reports
dc.rightsopenAccess
dc.rights.holderCopyright NATURE PUBLISHING GROUP
dc.subject.othersusceptibility
dc.subject.otherhaplotypes
dc.subject.wosMultidisciplinary Sciences
dc.titleThe influence of population stratification on genetic markers associated with type 1 diabetes
dc.typearticle
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.author.externalBRITO, Luciano Abreu:Univ Sao Paulo, Inst Biociencias, Dept Genet & Biol Evolut, Rua Matao 277, BR-05422970 Sao Paulo, SP, Brazil
hcfmusp.author.externalRUIZ, Marcelo Ortega:Immunol Lab, Rua Claudio Manoel Costa,270 Marilia Sao Paulo, Sao Paulo, SP, Brazil
hcfmusp.author.externalMATIOLI, Sergio Russo:Univ Sao Paulo, Inst Biociencias, Dept Genet & Biol Evolut, Rua Matao 277, BR-05422970 Sao Paulo, SP, Brazil
hcfmusp.author.externalPASSOS-BUENO, Maria Rita:Univ Sao Paulo, Inst Biociencias, Dept Genet & Biol Evolut, Rua Matao 277, BR-05422970 Sao Paulo, SP, Brazil
hcfmusp.citation.scopus23
hcfmusp.contributor.author-fmusphcKARLA FABIANA BRASIL GOMES
hcfmusp.contributor.author-fmusphcARITANIA SOUSA SANTOS
hcfmusp.contributor.author-fmusphcCINTIA SEMZEZEM
hcfmusp.contributor.author-fmusphcMARCIA REGINA SOARES CORREIA
hcfmusp.contributor.author-fmusphcROSA TSUNECHIRO FUKUI
hcfmusp.contributor.author-fmusphcMARIA ELIZABETH ROSSI DA SILVA
hcfmusp.description.articlenumber43513
hcfmusp.description.volume7
hcfmusp.origemWOS
hcfmusp.origem.pubmed28262800
hcfmusp.origem.scopus2-s2.0-85014760454
hcfmusp.origem.wosWOS:000395428700001
hcfmusp.publisher.cityLONDON
hcfmusp.publisher.countryENGLAND
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