Literature DB >> 6594040

Genetic heterogeneity of insulin-dependent (type I) diabetes mellitus: evidence from a study of extended haplotypes.

S S Rich, L R Weitkamp, J Barbosa.   

Abstract

Two hundred subjects with insulin-dependent (type I) diabetes mellitus (IDDM) were typed for HLA-B, HLA-DR, and properdin factor B (Bf). HLA and Bf antigen and haplotype frequencies in subjects were compared with control frequencies derived from the 8th HLA Workshop. Frequencies of extended haplotypes (defined by B-Bf-DR alleles on a chromosome) were also contrasted with control frequencies. Significant positive associations between IDDM and HLA-B8, DR3, DR4, BfS, and BfF1 were confirmed, as were significant negative associations between IDDM and HLA-B7, DR2, DR5, DR7, and BfF. One haplotype (B7-BfS-DR2) exhibited significant negative association, while five haplotypes (B8-BfS-DR3, B8-BfS-DR4, B15-BfS-DR4, B18-BfF1-DR3, and B40-BfS-DR4) exhibited significant positive associations with IDDM. In this sample, 64% of all probands carried at least one of the high-risk haplotypes. In conclusion, the occurrence of five "high-risk" haplotypes associated with IDDM provides evidence for previously undocumented genetic heterogeneity and suggests that possibly more than two HLA-region genes may be involved in IDDM susceptibility.

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Year:  1984        PMID: 6594040      PMCID: PMC1684521     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


  34 in total

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Journal:  Br Med J       Date:  1975-07-19

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Authors:  G Schernthaner; H Ludwig; W R Mayr; R Willvonseder
Journal:  N Engl J Med       Date:  1976-09-09       Impact factor: 91.245

3.  Histocompatibility (HL-A) antigens, lymphocytotoxic antibodies and tissue antibodies in patients with diabetes mellitus.

Authors:  D P Singal; M A Blajchman
Journal:  Diabetes       Date:  1973-06       Impact factor: 9.461

4.  A haplotype study of HLA complex with special reference to the HLA-DR series and to Bf. C2 and glyoxalase I polymorphisms.

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Journal:  Tissue Antigens       Date:  1978-10

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Authors:  L R Weitkamp; J Barbosa; S A Guttormsen; S Johnson
Journal:  Lancet       Date:  1979-08-18       Impact factor: 79.321

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Authors:  D Raum; C A Alper; R Stein; K H Gabbay
Journal:  Lancet       Date:  1979-06-09       Impact factor: 79.321

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Authors:  G Thomson
Journal:  Ann Hum Genet       Date:  1980-05       Impact factor: 1.670

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Authors:  R L Kirk; J Theophilus; S Whitehouse; J Court; P Zimmet
Journal:  Diabetes       Date:  1979-10       Impact factor: 9.461

9.  Immunoglobulin G-insulin antibodies and immune region-associated alloantigens in insulin-dependent diabetes mellitus.

Authors:  G Schernthaner; H Ludwig; W R Mayr
Journal:  J Clin Endocrinol Metab       Date:  1979-03       Impact factor: 5.958

10.  Genetic polymorphism in human glycine-rich beta-glycoprotein.

Authors:  C A Alper; T Boenisch; L Watson
Journal:  J Exp Med       Date:  1972-01       Impact factor: 14.307

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  10 in total

Review 1.  The genetics of type I (insulin dependent) diabetes mellitus.

Authors:  D Cavan; S Bain; A Barnett
Journal:  J Med Genet       Date:  1992-07       Impact factor: 6.318

2.  Introduction.

Authors: 
Journal:  Diabetes Care       Date:  2015-01       Impact factor: 19.112

Review 3.  Autoimmune diseases - connecting risk alleles with molecular traits of the immune system.

Authors:  Maria Gutierrez-Arcelus; Stephen S Rich; Soumya Raychaudhuri
Journal:  Nat Rev Genet       Date:  2016-02-15       Impact factor: 53.242

Review 4.  Genetic heterogeneity, modes of inheritance, and risk estimates for a joint study of Caucasians with insulin-dependent diabetes mellitus.

Authors:  G Thomson; W P Robinson; M K Kuhner; S Joe; M J MacDonald; J L Gottschall; J Barbosa; S S Rich; J Bertrams; M P Baur
Journal:  Am J Hum Genet       Date:  1988-12       Impact factor: 11.025

5.  Susceptibility to IDDM is marked by MHC supratypes rather than individual alleles.

Authors:  H Kelly; V J McCann; P H Kay; R L Dawkins
Journal:  Immunogenetics       Date:  1985       Impact factor: 2.846

6.  Shared genetic susceptibility of type 1 (insulin-dependent) and type 2 (non-insulin-dependent) diabetes mellitus: contributions of HLA and haptoglobin.

Authors:  S S Rich; S S Panter; F C Goetz; B Hedlund; J Barbosa
Journal:  Diabetologia       Date:  1991-05       Impact factor: 10.122

Review 7.  Susceptible loci associated with autoimmune disease as potential biomarkers for checkpoint inhibitor-induced immune-related adverse events.

Authors:  Esmée P Hoefsmit; Elisa A Rozeman; John B A G Haanen; Christian U Blank
Journal:  ESMO Open       Date:  2019-07-21

8.  Variant to Gene Mapping to Discover New Targets for Immune Tolerance.

Authors:  Parul Mehra; Andrew D Wells
Journal:  Front Immunol       Date:  2021-04-15       Impact factor: 7.561

9.  Role of Type 1 Diabetes-Associated SNPs on Autoantibody Positivity in the Type 1 Diabetes Genetics Consortium: Overview.

Authors:  Stephen S Rich; Patrick Concannon
Journal:  Diabetes Care       Date:  2015-10       Impact factor: 19.112

10.  Complement gene variants in relation to autoantibodies to beta cell specific antigens and type 1 diabetes in the TEDDY Study.

Authors:  Carina Törn; Xiang Liu; William Hagopian; Åke Lernmark; Olli Simell; Marian Rewers; Anette-G Ziegler; Desmond Schatz; Beena Akolkar; Suna Onengut-Gumuscu; Wei-Min Chen; Jorma Toppari; Juha Mykkänen; Jorma Ilonen; Stephen S Rich; Jin-Xiong She; Ashok Sharma; Andrea Steck; Jeffrey Krischer
Journal:  Sci Rep       Date:  2016-06-16       Impact factor: 4.996

  10 in total

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