Title
Genetic variation in the CRP promoter: Association with systemic lupus erythematosus
Date Issued
15 April 2008
Access level
open access
Resource Type
journal article
Author(s)
Edberg J.C.
Wu J.
Langefeld C.D.
Brown E.E.
Marion M.C.
Mcgwin G.
Petri M.
Ramsey-Goldman R.
Reveille J.D.
Frank S.G.
Kaufman K.M.
Harley J.B.
Kimberly R.P.
University of Alabama at Birmingham
Abstract
The pentraxin C-reactive protein (CRP), an innate immune system opsonin which binds nuclear debris and apoptotic bodies, may protect against autoimmunity. A relative deficiency of CRP levels in patients with systemic lupus erythematosus (SLE) might contribute to altered handling of self-antigens. We report that the proximal 5′ promoter region of CRP contains several polymorphisms that exhibit association with SLE in multiple populations. Strongest association was observed at the proximal promoter single nucleotide polymorphism (SNP) rs3093061 (CRP-707) (P = 6.41 × 10-7 and P = 2.13 × 10-6 in African-American and Caucasian case-control samples respectively). This association remains after adjustment for admixture. Linkage disequilibrium exists between SNPs in the proximal promoter and association of functional haplotypes containing rs3091244/rs3093062 (CRP-409/-390) appear to be driven by the rs3093061 (CRP-707) association. These data demonstrate that rs3093061 at the -707 site within the CRP gene is an SLE susceptibility locus. © 2008 The Author(s).
Start page
1147
End page
1155
Volume
17
Issue
8
Language
English
OCDE Knowledge area
Genética, Herencia
Scopus EID
2-s2.0-41849103445
PubMed ID
Source
Human Molecular Genetics
ISSN of the container
09646906
Sponsor(s)
Funding text
This work was supported by NIH PO1 AR49084 Program Project in the Genetics of SLE, AR43727, AR42460, AI24717, AR048940, RR020143, a Mary Kirkland Award, the US Department of Veteran Affairs and by General Clinical Research Centers: M01-RR00032 (UAB), M01-RR00052 (JHU), M01-RR00048 (NU), and M01-RR02558 (UTH).
Sources of information:
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