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Immunoglobulin heavy chain switch region gene polymorphisms in glomerulonephritis
R H Moore1, G A Hitman, R A Sinico
1Medical Unit, London Hospital Medical College.
Kidney International
|August 1, 1990
Summary
Genetic analysis of immunoglobulin heavy chain switch regions (S mu and S alpha 1) in IgA nephropathy (IgAN) and membranous nephropathy (MN) found no association with disease susceptibility. These findings suggest these specific genetic factors do not contribute to IgAN or MN development.
Area of Science:
- Nephrology
- Immunogenetics
- Molecular Biology
Background:
- Primary IgA nephropathy (IgAN) and idiopathic membranous nephropathy (MN) are immune complex-mediated kidney diseases.
- Genetic factors are implicated in the pathogenesis of these glomerulonephritis conditions.
- Previous studies suggested an association between immunoglobulin heavy chain gene restriction fragment length polymorphisms (RFLPs) and glomerulonephritis.
Purpose of the Study:
- To investigate the association between RFLPs of the IgM (S mu) and IgA1 (S alpha 1) heavy chain switch regions and IgA nephropathy (IgAN) and membranous nephropathy (MN).
- To determine if ethnic variations in genetic susceptibility exist for IgAN.
Main Methods:
- Restriction fragment length polymorphisms (RFLPs) analysis of S mu and S alpha 1 heavy chain switch regions.
- DNA samples from British Caucasian patients with IgAN (N=75) and MN (N=43), and controls (N=73).
- Southern blot techniques and hybridization with a 32P-labeled DNA probe homologous to S mu, detecting RFLPs at S mu and S alpha 1 loci.
- Comparison of genotypic and allelic frequencies in patient cohorts versus healthy controls, including European cohorts for IgAN.
Main Results:
- Genotypic and allelic frequencies of S mu and S alpha 1 alleles were similar between IgAN and MN patient groups and normal controls.
- No significant ethnic variation in S mu and S alpha 1 allele frequencies was observed between Northern and Southern European IgAN patients and their local controls.
- The study did not support previous findings associating S mu and S alpha 1 RFLPs with IgAN and MN.
Conclusions:
- Immunoglobulin heavy chain switch region genes (S mu and S alpha 1) are not significantly associated with conferring disease susceptibility to IgA nephropathy or membranous nephropathy.
- These specific genetic polymorphisms do not appear to be major contributors to the pathogenesis of IgAN and MN in the studied populations.