Freqüência Dos Antígenos Hla-DR e DQ Em Pacientes Brasileiros Com Diabetes Mellitus Tipo I (original) (raw)
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REVISTA BIOMÉDICA, 2003
Introducción. Las variaciones de HbA1, en individuos sanos, son atribuidas a diferencias biológicas complejas. Se conoce que los genes HLA DQ participan en la predisposición para desarrollar diabetes mellitus tipo 1 (DM1). Material y métodos. Los genes HLA DQA1 y DQB1 y la heredabilidad de los niveles de HbA1, se investigaron en individuos sanos de familias mexicanas con DM1 y sin antecedentes de diabetes. La HbA1 se determinó por cromatografía de intercambio iónico y los alelos HLA clase II se tipificaron por técnicas de PCR en 77 personas sanas de 18 familias con al menos un caso índice con DM1 (DM1R) y 96 individuos de 18 familias sin antecedentes familiares de DM como grupo control. Resultados. No se observaron diferencias en los niveles de HbA1, entre ambos grupos. Con base en el análisis de coeficiente de regresión, se correlacionaron HbA1 entre padres e hijos y se estimó una heredabilidad de 53%. El análisis de HLA entre los grupos, mostró, como era esperado, incremento de al...
Exclusive HLA-DQ factors do not explain susceptibility to insulin-dependent diabetes
Human Immunology, 1991
DQA1, DQA2, DQB1, and DRBI alleles have been determined and the DQA1 and DQB1 DNA gene sequences assigned by using restriction fragment length polymorphisms in 67 diabetic individuals and 72 controls. It has been found that: 1) DQA2 (U allele) is not a susceptibility factor, 2) non-aspartic acid homozygosity in residue 57 (Asp 97 negative) of the DOff chains is positively correlated with insulin-dependent diabetes mellitus (IDDM), and 3) DOff Asp-57negative and DQ0t arginine-52-positive (Arg-52-positive) individuals are increased among diabetic patients; this latter analysis shows a higher etiologic fraction value than the one obtained when considering only homozy-ABBREVIATIONS 6 etiologic fraction IDDM insulin-dependent diabetes mellitus MHC major histocompatibility complex The contributions to this article by Jorge Martinez-Laso and Jose L. Vicario are equal; the order of authorship is arbitrary. From the Department of Immunology (J.M.-L.; A.C.; J.M.M.-V.; P.M.; A.A.
HLA-A, -B, -DRB1, -DQA1, and -DQB1 profile in a population from southern Brazil
HLA: Immune Response Genetics, 2018
The aim of this study was to determine the allele and haplotype frequencies of HLA-A,-B,-DRB1, and-DQB1 in a self-declared White population from the North and Northwestern state of Paraná, Southern Brazil, and compare the data with populations worldwide. The genotyping was performed with a group of 641 individuals, based on PCR-SSO and-SSP methods, and allele and haplotype frequencies were estimated. Comparisons with European, African, Asian, and Amerindian populations were performed. The most frequent allelic groups, alleles and haplotypes were: HLA-A*
European journal of epidemiology, 2004
Susceptibility to the type 1 diabetes is genetically controlled and there is an increased risk associated with the presence of some specific alleles of the human leukocyte antigens class II loci (DQA1 and DQB1 genes). The purpose of this study is to evaluate the association between type 1 diabetes and HLA DQ alleles using case-parents trios in the admixed population of Uruguay composed by a mixture of Caucasian, Amerindian and Negroid populations. DQA1 and DQB1 genotyping was performed by polimerase chain reaction followed by oligospecific probes hybridization in 51 case-parents trios. The transmission disequilibrium test was used for detecting differential transmission in the HLA DQ loci. DQB1*0302 was the only allele for which preferential transmission is suggested (probability of transmission = 67.56%; exact p-value TDT = 0.047 uncorrected for multiple comparisons). DQA1*0301 allele showed a trend for preferential transmission without achieving statistical significance. This resu...
Polymorphisms within the HLA-DRw6 haplotype. III. DQα and DQβ polymorphism associated with HLA-D
Human Immunology, 1987
We ba~e studied HLA-DQ ,needed antigens fiem HLA-DRw6 he~my~e~ss cd~ aud analyzed the DQ rtgie~ at the D~IA kvd. HLA-DQ u*d¢c#los u~tr¢ isda$ed fr~ EBV tramformed B-cdl lines and analyzed ],r DQe, and DQ~ ~ymer#hi~'a. F~ the same set of ¢dh, DNA was isdated and analyzed for RPLP. Pdymer#hi~ ~uld ~ detuted ~y beth ta*hniques, Le., on the p~ein l¢~d and on the DNA. The ~adation in p[ ~f tbe ~ and# ¢b~i~ ~,ated with the p~ymorphism as deta*ted by HTC ~yping, as did the ~4atiee i~ ~¢el~ weight ¢f the ~a~ch hy~dizi~g to [M~ $P~3~ rDNA ~wObeS; idcetital [~tt~ W~ ~t~ctd J~r ~¢ of o~e tILA-D sImificity aud d~ffcrcnt patt~,m far diffir*nt HLA-D ty~. Additiem~ly, L~ r*active PLT reaM~n w*re raised ~gaimt DRw6 po*iti~* ceL~. Pand studies re~ld tba~ tke*e DQ ~active prdiforatlve T cdh can discriminate ~¢twe~n tl~ pdymerphi¢ DQ au~ig~.~ on cd~ with diff~mt HLA-D s~ifidtios. ABBREVIATIONS kb kiloimses PLT ptim~ lymphocyte ~yping MLC/R mixed l~mphocyte RFLP ~st~'ic~on fmgmem le~.th culture/reactlon polymorphlsm pl isoe|ectric point MoAb monocgonal ~dbody
Expression of HLA‐DQA1 and HLA‐DQB1 genes in B lymphocytes, monocytes and whole blood
International Journal of Immunogenetics, 2018
SummaryDifferential expression of HLA‐DQA1 and HLA‐DQB1 gene alleles was analysed in three different cell populations isolated from peripheral blood—B lymphocytes, monocytes and whole‐blood cells. Interallelic differences in mRNA levels were observed: DQA1*03 alleles were among the most expressed in all cell types, whereas DQA1*05 alleles were least expressed in whole blood and monocytes and among the most expressed in B cells. For DQB1 gene, DQB1*06 group of alleles were the most expressed, and DQB1*02 group the least expressed within all cell populations examined. In comparison with the rest alleles, DQB1*06 and DQB1*05:02 alleles have higher expression in monocytes than in B cells, professional antigen‐presenting cells. Cell type‐specific regulation of expression was observed as well, with higher and more balanced expression of alleles in B lymphocytes compared to monocytes.
Tissue Antigens, 1995
Effects of the second HLA-DQ haplotype on the association with childhood insulin-dependent diabetes mellitus. Tissue Antigens 1995: 45: 148-152. 0 Munksgaard, 1995 Studies on HLA genotypes in insulin-dependent diabetes mellitus (IDDM) show that DQB1*0302-DQAl*O301 (DQS) and DQB1*0201-DQA1*0501 (DQ2) haplotypes are positively and DQB 1 *0602-DQAl"0102 (DQ6), negatively associated with IDDM (1-6). Since DQ6 in the presence of DQS was negatively associated, it was concluded that DQ6 confers dominant protection (2). This observation indicates that the second D Q haplotype may influence the association between HLA and IDDM. Large population-based investigations are, however, necessary to analyze in detail the contribution of the second haplotype to the HLA-DQ association with IDDM. This analysis is importance since in 0to 14-year-old Caucasians, nearly 70% of the patients are positive for DQB1*0302-DQAl"0301 (DQS) (7). Furthermore, several studies in different ethnic groups have analysed both younger and older age groups, to show that heterozygosity
American journal of human genetics, 1993
The association between HLA-DR and -DQ and insulin-dependent diabetes mellitus (IDDM) in a defined high-incidence area was analyzed in a total of 58 population-based patients, representing 77% of IDDM patients with age at onset below 16 years, and in 92 unrelated parents in control families without IDDM. HLA haplotypes were confirmed by analyzing first-degree relatives in both groups. Seven different methods were used to analyze risk: (1) odds ratio, (2) absolute risk, (3) haplotype relative risk, (4) transcomplementation relative risk, (5) relative predisposing effects, (6) stratification analysis, and (7) test of predisposing allele on haplotype. DQB1*0302 indicated somewhat higher risk than did DR4, while DR3 had a higher risk than DQB1*0201; however, the 95% confidence intervals of the risk estimates overlapped. The positive association between IDDM and the DQB1*0201-DQA1*0501-DR3 haplotype seems to be due to DR3 or to an unknown linked gene. More important, DQA1*0301 was presen...