Human Heredity

Original Paper

Studies of HLA, Factor B (Bf), Complement C2 and C4 Haplotypes in Type 1 Diabetic and Control Families from Northern Sweden

Hägglöf B.a · Holmgren G.a,b · Holmlund G.c · Lindblom B.c · Olaisen B.d · Teisberg P.e

Author affiliations

aDepartment of Paediatrics and bDepartment of Clinical Genetics, University of Umeå, Sweden; cState Institute for Blood Group Serology, Linköping, Sweden; dDepartment of Forensic Medicine and eDepartment of Internal Medicine, University of Oslo, Norway

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Hum Hered 1986;36:201–212

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Published online: September 02, 2008
Issue release date: 1986

Number of Print Pages: 12
Number of Figures: 0
Number of Tables: 0

ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)

For additional information: https://www.karger.com/HHE

Abstract

The HLA-A-B-C-DR antigens and the complement factors C2, C4 and Bf were determined in 30 insulin-dependent diabetes mellitus (IDDM) patients and 30 healthy controls from northern Sweden. Family studies allowed the deduction of extended haplotypes in the HLA and complement systems. Phenotype studies revealed significant associations between IDDM and HLA-DR4 (p < 0.001), HLA-DR3 (p < 0.05), HLA-DR3/4 (p < 0.025), C4-B3 (p < 0.001) and Bf-S (p < 0.025). Haplotype studies showed that the extended haplotype [HLA-B15, C2–1, C4-A3B3, Bf-S, HLA-DR4] had a particularly strong association to IDDM. This haplotype was found in 10 out of 30 IDDM probands but in none of 30 control children and accounts for practically all the C4-B3 allotypes among the 30 IDDM probands. The C4-B3 gene therefore seems to be a valuable marker for IDDM. No haplotype containing HLA-DR3 was increased in frequency among the IDDM probands. The extended haplotype [HLA-B7, C2–1, C4-A3B1, Bf-S, HLA-DR2] present among the controls was absent in the IDDM probands. The frequency of the extended haplotype [HLA-B15, C2–1, C4-A3B3, Bf-S, HLA-DR4] was increased also among the parents to the IDDM probands compared to those of the control parents, whereas the frequency of [HLA-B7, C2–1, C4-A3B1, Bf-S, HLA-DR2] was decreased. The extended haplotype [HLA-B8, C2–1, C4-B1, Bf-S, HLA-DR3] was more common among the males (p < 0.05) compared to the females in the total material. The family analysis showed that 3 out of 5 affected sibs shared both haplotypes with their IDDM proband. This was the case for only 3 out of 35 unaffected sibs.

© 1986 S. Karger AG, Basel




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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Published online: September 02, 2008
Issue release date: 1986

Number of Print Pages: 12
Number of Figures: 0
Number of Tables: 0

ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)

For additional information: https://www.karger.com/HHE


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