Journal article
Apolipoprotein H Promoter Polymorphisms in Relation to Lupus and Lupus-related Phenotypes
Journal of rheumatology, v 36(2), pp 315-322
01 Feb 2009
PMID: 19132787
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Objective. Sequence variation in gene promoters is often associated with disease risk. We tested the hypothesis that common promoter variation in the APOH gene (encoding for beta(2)-glycoprotein I) is associated with systemic lupus erythematosus (SLE) risk and SLE-related clinical phenotypes in a Caucasian cohort.
Methods. We used a case-control design and genotyped 345 women with SLE and 454 healthy control women for 8 APOH promoter single-nucleotide polymorphisms (SNP; -1284C>G, -1219G>A, -1190G>C, 759A>G, -700C>A, -643T>C, -38G>A, and -32C>A). Association analyses were performed on single SNP and haplotypes. Haplotype analyses were performed using EH (Estimate Haplotype frequencies) and Haploview programs. In vitro reporter gene assay was performed in COS-1 cells. Electrophoretic mobility shift assay (EMSA) was performed using HepG2 nuclear cells.
Results. Overall haplotype distribution of the APOH promoter SNP was significantly different between cases and controls (p = 0.009). The -643C allele was found to be protective against carotid plaque formation (adjusted OR 0.37, p = 0.013) among patients with SLE. The -643C allele was associated with a similar to 2-fold decrease in promoter activity as compared to wild-type -643T allele (mean +/- standard deviation: 3.94 +/- 0.05 vs 6.99 +/- 0.68, p = 0.016). EMSA showed that the -643T>C SNP harbors a binding site for a nuclear factor. The -12196>A SNP showed a significant association with the risk of lupus nephritis (age-adjusted OR 0.36, p = 0.016).
Conclusion. Our data indicate that APOH promoter variants may be involved in the etiology of SLE, especially the risk for autoimmune-mediated cardiovascular disease. (First Release Dec 15 2008; J Rheumatol 2009;36:315-22; doi: 10.3899/jrheum.080482)
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Details
- Title
- Apolipoprotein H Promoter Polymorphisms in Relation to Lupus and Lupus-related Phenotypes
- Creators
- Sangita Suresh - University of PittsburghF. Yesim K. Demirci - University of PittsburghErin Jacobs - University of PittsburghAmy H. Kao - University of PittsburghElisa Y. Rhew - Northwestern UniversityDharambir K. Sanghera - University of PittsburghFaith Selzer - University of PittsburghKim Sutton-Tyrrell - University of PittsburghDavid McPherson - Northwestern UniversityFranklin A. Bontempo - University of PittsburghCandace M. Kammerer - University of PittsburghRosalind Ramsey-Goldman - Center for RheumatologySusan Manzi - University of PittsburghM. Ilyas Kamboh - University of Pittsburgh
- Publication Details
- Journal of rheumatology, v 36(2), pp 315-322
- Publisher
- J Rheumatol Publ Co
- Number of pages
- 8
- Grant note
- M01RR000048 / NATIONAL CENTER FOR RESEARCH RESOURCES; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Center for Research Resources (NCRR) K24-AR02318; P60 AR30692; P60-AR48098 / Mary Kirkland Center for Lupus Research and Rheumination, Inc R01HL054900 / NATIONAL HEART, LUNG, AND BLOOD INSTITUTE; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Heart Lung & Blood Institute (NHLBI) 1-32-AR51681; K23-AR054418 / National Institutes of Health; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA M01-RR00048 / NCRR/GCRC; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Center for Research Resources (NCRR) P60AR030692 / NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Arthritis & Musculoskeletal & Skin Diseases (NIAMS) HL 51900 / National heart, lung, and Blood Institute; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Heart Lung & Blood Institute (NHLBI) UL1TR000005 / NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Center for Advancing Translational Sciences (NCATS)
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- General Internal Medicine
- Web of Science ID
- WOS:000263333000018
- Scopus ID
- 2-s2.0-64849097573
- Other Identifier
- 991021933898304721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Rheumatology