The focus of my research program is the genetics and epidemiology of human autoimmune disease, particularly rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). As part of my studies of RA, we recently completed an analysis of familial clustering of RA disease features and a genome screen focusing on two RA-related quantitative traits utilizing the North American RA Consortium (NARAC) collection of multicase RA families. A genome wide screen using SNP markers has also recently been completed among the NARAC families, in collaboration with Illumina. As part of the Multiple Autoimmune Disease Genetics Consortium (MADGC), we recently completed a detailed description of the initial 300 multiplex families, including an analysis of a recently discovered autoimmunity gene, PTPN22. A genome wide screen has also recently been completed among the largest of these multiplex autoimmune families, in collaboration with Myriad Genetics. Recent work utilizing the population-based Iowa Women’s Health Study cohort has focused on gene-environment interactions, where we have demonstrated interaction between exposure to tobacco smoke and two specific genetic risk factors. Some of our recent work in SLE indicates that exposure to tobacco smoke influences the production of anti-double stranded DNA autoantibodies. We also recently completed a study of genetic predictors of treatment response and infectious complications among a cohort of patients with early RA enrolled in a randomized controlled trial of methotrexate and etanercept. Ongoing candidate gene studies utilizing my large SLE family cohort include investigations of viral receptor loci, CD45, PD1, ESR1, and renin angiotensin system polymorphisms. Recently initiated projects include a comprehensive, family-based study of the HLA region in SLE and RA using a panel of 2,400 SNP markers across the region, and a RA genetics study utilizing a genetically isolated population in the Netherlands. Lastly, we are collaborating on a study using admixture mapping methods to identify disease loci for SLE among African Americans, and an international SLE consortium project to perform a genome wide association study among a large group of Caucasian SLE cases and controls.
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Gorman JD, Lum RF, Chen JJ, Suarez-Almazor ME, Thomson G, Criswell LA. Impact of shared epitope genotype and ethnicity on erosive disease: a meta-analysis of 3,240 rheumatoid arthritis patients. Arthritis and Rheumatism, 2004; 50 (2):400-12.
Jawaheer D, Lum RF, Amos CI, Gregersen PK, Criswell LA. Clustering of disease features within 512 multicase rheumatoid arthritis families. Arthritis and Rheumatism, 2004; 50 (3): 736-41.
Criswell LA, Lum RF, Turner KN, Woehl B, Zhu Y, Wang J, Tiwari HK, Edberg JC, Kimberly RP, Moreland LW, Seldin MF, Bridges SL, Jr. The influence of genetic variation in the HLA-DRB1 and TNF-LTA regions on response to treatment of early rheumatoid arthritis with methotrexate or etanercept. Arthritis and Rheumatism, 2004; 50 (9): 2750-6.
Criswell LA, Pfeiffer KA, Lum RF, Gonzales B, Novitzke J, Kern M, Moser K, Begovich AB, Carlton VH, Li W, Lee AT, Ortmann W, Behrens TW, Gregersen PK. Analysis of families in the Multiple Autoimmune Disease Genetics Consortium (MADGC): the PTPN22 620W allele associates with multiple autoimmune phenotypes. The American Journal of Human Genetics, 2005; 76: 561-71.
Parsa A, Lovett DH, Peden EA, Zhu Lingxiang, Seldin MF, Criswell LA. Renin angiotensin system gene polymorphisms predict the progression to renal insufficiency in lupus nephritis. Genes and Immunity, 2005; 6: 217-24.
Huizinga TWJ, Amos CI, van der Helm-van Mil AHM, Chen W, van Gaalen FA, Jawaheer D, Schreuder GMT, Wener M, Breedveld FC, Ahmad N, Lum RF , de Vries RRP, Gregersen PK , Toes REM, Criswell LA. Refining the complex rheumatoid arthritis phenotype based on specificity of the HLA-DRB1 shared epitope for antibodies to citrullinated proteins. Arthritis and Rheumatism, 2005; 52 (11): 3433-8.
Freemer MM, King TE, Criswell LA. Smoking status and dsDNA antibodies in Caucasian SLE patients. Annals of the Rheumatic Diseases, 2005 Sep 8; [Epub ahead of print].
information last updated September 2006 |