Restriction fragment polymorphisms of the HLA‐DR, HLA‐DQ, and insulin gene regions in IDDM: The GAW5 data

Cox, Nancy J.; Gogolin, Kathryn J.; Horváth, Viktória; Barker, David F.; Wright, E. A.; Tran, Thao; Skolnick, Mark H.; Boehm, B. O.; Fehsel, Karin; Bertrams, J.; Hodge, Thomas; Acton, Ronald T.; McGill, Janet B.; Elbein, Steven C.; Permutt, M. A.; Préval, C. de; Avoustin, P.; Cambon‐Thomsen, Anne; Robinson, David M.; Holbeck, Susan L.; Nepom, Gerald T.; Schneider, P. M.; Rittner, Christian; Toyoda, Hiroo; Rotter, Jerome I.; Spielman, Richard S.

doi:10.1002/gepi.1370060106

Cited by 9 publications

(2 citation statements)

References 15 publications

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“…DR types were interpreted by patterns of hybridization, as standardized in ref. 8. DP typing was performed by DNA amplification and slot-blot hybridization with oligonucleotide probes as described (9).…”

Section: Methodsmentioning

confidence: 99%

“…The DQA oligonucleotide probe has been previously referred to as DQaS-46 (6), and the DQB probe as DQp1-26 (7). After DQA and DQB typing, gels were again stripped by washing in water at 85"C, and reprobed with a DRB complementary DNA probe (8), which had been 32P-labeled by random hexanucleotide priming. DR types were interpreted by patterns of hybridization, as standardized in ref.…”

Section: Methodsmentioning

confidence: 99%

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HLA and T Cell Receptor Polymorphisms in Pauciarticular‐Onset Juvenile Rheumatoid Arthritis

Nepom

Malhotra

Schwarz

et al. 1991

Arthritis & Rheumatism

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The immunogenetic basis of pauciarticular-onset juvenile rheumatoid arthritis is unclear. We therefore analyzed the HLA and T cell receptor genes present in a clinically well-defined group of patients. We found that the DR8 haplotype contributes most of the HLAassociated risk, although alleles at other loci contribute independently. A candidate disease-associated T cell receptor polymorphism, in contrast, was not identified in this population. Mechanistic implications of these findings are discussed.Pauciarticular-onset juvenile rheumatoid arthritis (JRA) is the most common form of JRA, characterized by clinically important articular and ophthalmologic manifestations. It typically affects females, beginning during the first few years of life, with

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Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

HLA and T Cell Receptor Polymorphisms in Pauciarticular‐Onset Juvenile Rheumatoid Arthritis

Nepom

Malhotra

Schwarz

et al. 1991

Arthritis & Rheumatism

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Genetic analysis of IDDM: The GAW5 multiplex family dataset

Baur

Fimmers

Fritsche

et al. 1989

Genetic Epidemiology

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In a collaborative effort by 12 centers from Europe and North America, data were assembled from 94 multiplex families with insulin-dependent diabetes mellitus (IDDM) for analysis of genetic and other factors of possible etiological importance. The dataset contains information on the following genetic markers: HLA-DR beta and -DQ beta restriction fragment length polymorphisms (RFLPs), three RFLPs detected with two probes that map 5' to the insulin gene, the serologically defined HLA loci, and the immunoglobulin allotypes. Data also were included for auto-antibodies to insulin and pancreatic islet cells as possible indicators of pathogenesis and for antibodies to certain viruses that have been implicated as "triggering" agents in IDDM. Medical history of family members was obtained by means of a uniform questionnaire. Identical copies of the dataset were distributed to anyone wishing to participate in the analysis for the IDDM component of GAW5. The multiplex IDDM family dataset is now available on request for further analysis.

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Genetic analysis of IDDM: Summary of GAW5 IDDM results

Spielman

Baur²,

Clerget‐Darpoux

1989

Genetic Epidemiology

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This paper summarizes the analyses by participants in the insulin-dependent diabetes mellitus (IDDM) component of Genetic Analysis Workshop 5 (GAW5). The data were obtained from 94 families with two or more IDDM sibs. Topics treated in the Workshop analysis included the following: methods for detecting associations and linkage, the contribution by HLA-linked and -unlinked loci to IDDM susceptibility, the role of subtypes of the serologically defined HLA specificities, the implications of associated diseases other than IDDM in the families, the significance of antibodies to Coxsackie viruses, and of autoantibodies to pancreatic islet cells and insulin, and the use of genetic models to analyze the inheritance of IDDM. There was agreement that an explanation for the data on multiplex IDDM families must include the following features: 1) There is a susceptibility locus (or loci) in the HLA region. 2) The HLA-linked factor(s) are more complex than a single locus with one disease and one nondisease allele. 3) There is additional familial correlation beyond that explained by HLA-linked susceptibility, which may be genetic and/or environmental. With regard to the third feature, IDDM-GAW5 included data on variation in Gm haplotypes and at the insulin gene, two regions unlinked to HLA. However, there was no direct evidence (i.e., from marker segregation) that the additional factor, if genetic, is linked to either Gm or the insulin gene. Nevertheless, a significant difference was found between "diabetic" and "control" insulin genes with respect to frequency of class 1 alleles for the 5' flanking polymorphism, strongly suggesting linkage.

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Restriction fragment polymorphisms of the HLA‐DR, HLA‐DQ, and insulin gene regions in IDDM: The GAW5 data

Cited by 9 publications

References 15 publications

HLA and T Cell Receptor Polymorphisms in Pauciarticular‐Onset Juvenile Rheumatoid Arthritis

HLA and T Cell Receptor Polymorphisms in Pauciarticular‐Onset Juvenile Rheumatoid Arthritis

Genetic analysis of IDDM: The GAW5 multiplex family dataset

Genetic analysis of IDDM: Summary of GAW5 IDDM results

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