Martens HA et al. - C1q polymorphisms were found to be associated with SLE, serum C1q and CH50 levels in a stable founder population of systemic lupus erythematosus (SLE) patients. Methods
Objective was to determine whether polymorphisms of the C1q genes are associated with SLE, disease phenotypes, serum C1q and CH50 levels
DNA for genetic analysis was obtained from 103 Caucasian SLE pts and their family members
5 tag-SNPs served as unique markers for underlying SNPs in C1q genes
Association of markers with SLE, SLE phenotypes, low serum C1q and low CH50 were determined using the pedigree disequilibrium test (PDT)
Single SNP association and haplotype analysis was also performed
Results
A significant association of the tag-SNP rs631090 with SLE was found
Rs631090 was moderately associated with low serum C1q levels
In addition, tag-SNP’s rs292001 and rs294183 were associated with more severe SLE
Haplotype analysis and single SNP association analysis showed no significant associations
However additional analyses revealed that marker rs587585 is associated with low serum C1q and CH50 levels
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