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Volume 3 Supplement 2

21st European Workshop for Rheumatology Research

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Genetic analysis of the pentraxin genes in SLE

The aetiology of systemic lupus erythematosus (SLE) is unknown. However, there is good evidence to support a genetic contribution in lupus, including a number of mouse strains that are genetically predisposed to develop lupus. Several groups have published genome-wide mapping studies on multi-case families. More than 15 intervals have been linked with SLE - they are large enough to contain several hundred genes; the aetiologic polymorphisms contained within them remain to be established.

We are establishing a large collection of single case nuclear families with the aim of fine mapping the aetiologic polymorphisms. Using a candidate gene approach, we have examined several genes, which lie within the linked intervals. First, we identified genetic markers in the candidate genes. The inheritance of the markers in our nuclear families was then tested using the program TRANSMIT which compares the observed and expected rates of transmission of marker alleles (or haplotypes) from parents to offspring. A marked distortion away from random segregation indicates association with disease.

We have hypothesised that genetic variation in the pentraxin genes, C-reactive protein (CRP) and serum amyloid component P (SAP) predisposes to SLE. These two genes are tightly linked on chromosome 1q21-23, a region linked to human SLE. Other evidence implicating these includes the defective CRP response in SLE and the presence of antinuclear autoimmunity in Sap knockout mice. We identified five novel single base pair polymorphisms (three in CRP and two in SAP) and tested these for evidence of association. Individuals from 354 families were studied.

These data provide no evidence for a genetic contribution to human SLE from the pentraxin genes. When haplotypes across this locus were examined there was similarly no evidence of association. The defective CRP response in human SLE is unlikely to be related to variation at the CRP locus itself.

Table Transmission of Markers across CRP and SAP to SLE Probands

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Russell, A., Roberton, C., Chadha, S. et al. Genetic analysis of the pentraxin genes in SLE. Arthritis Res Ther 3 (Suppl 2), L008 (2001).

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