Homozygous single nucleotide polymorphism of the complement C1QA gene is associated with decreased levels of C1q in patients with subacute cutaneous lupus erythematosus.

@article{Racila2003HomozygousSN,
  title={Homozygous single nucleotide polymorphism of the complement C1QA gene is associated with decreased levels of C1q in patients with subacute cutaneous lupus erythematosus.},
  author={Doina M. Racila and Clayton Sontheimer and Alexandra Sheffield and Jeffrey J. Wisnieski and Emil Racila and Richard Dennis Sontheimer},
  journal={Lupus},
  year={2003},
  volume={12 2},
  pages={124-32}
}
We report an association between a non-familial form of photosensitive Lupus-specific skin disease, subacute cutaneous lupus erythematosus (SCLE), and a new single nucleotide polymorphism (SNP) in the C1QA gene. We also describe an association between this SNP and lower levels of serum C1q. This SNP consists of adenine replacing the third guanine in the codon for aminoacid residue Gly70 (position excludes the 22 amino acid leading peptide) that is located in the second exon of the C1QA gene. We… CONTINUE READING
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