Dataset Information

ITGAM coding variant (rs1143679) influences the risk of renal disease, discoid rash and immunological manifestations in patients with systemic lupus erythematosus with European ancestry.

ABSTRACT: It was hypothesised that the coding variant (R77H), rs1143679, within ITGAM could predict specific clinical manifestations associated with systemic lupus erythematosus (SLE).To assess genetic association, 2366 patients with SLE and 2931 unaffected controls with European ancestry were analysed. The patients with SLE were coded by the presence or absence of individual American College of Rheumatology criteria. Logistic regression and Pearson chi(2) tests were used to assess statistical significance.For overall case-control analysis, a highly significant association was detected (p=2.22x10-21, OR 1.73). Using case-only analysis, a significant association was detected with renal criteria (p=0.0003), discoid rash (p=0.02) and immunological criteria (p=0.04). When patients with SLE were compared with healthy controls, the association became stronger for renal (p=4.69x10-22, OR 2.15), discoid (p=1.77x10-14, OR 2.03) and immunological (p=3.49x10-22, OR 1.86) criteria. Risk allele frequency increased from 10.6% (controls) to 17.0% (SLE), 20.4% (renal), 18.1% (immunological) and 19.5% (discoid).These results show a strong association between the risk allele (A) at rs1143679 and renal disease, discoid rash and immunological manifestations of SLE.

SUBMITTER: Kim-Howard X

PROVIDER: S-EPMC2891778 | biostudies-literature | 2010 Jul

REPOSITORIES: biostudies-literature

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ITGAM coding variant (rs1143679) influences the risk of renal disease, discoid rash and immunological manifestations in patients with systemic lupus erythematosus with European ancestry.

Kim-Howard Xana X Maiti Amit K AK Anaya Juan-Manuel JM Bruner Gail R GR Brown Elizabeth E Merrill Joan T JT Edberg Jeffrey C JC Petri Michelle A MA Reveille John D JD Ramsey-Goldman Rosalind R Alarcon Graciela S GS Vyse Timothy J TJ Gilkeson Gary G Kimberly Robert P RP James Judith A JA Guthridge Joel M JM Harley John B JB Nath Swapan K SK

Annals of the rheumatic diseases 20091125 7

<h4>Purpose</h4>It was hypothesised that the coding variant (R77H), rs1143679, within ITGAM could predict specific clinical manifestations associated with systemic lupus erythematosus (SLE).<h4>Method</h4>To assess genetic association, 2366 patients with SLE and 2931 unaffected controls with European ancestry were analysed. The patients with SLE were coded by the presence or absence of individual American College of Rheumatology criteria. Logistic regression and Pearson chi(2) tests were used to ...[more]

PMID: 19939855

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Project description:ImportanceClassification criteria are the standardized definitions that are used to enroll uniform cohorts for research studies. They emphasize high specificity and are distinct from diagnostic criteria. No universally recognized classification criteria currently exist for discoid lupus erythematosus (DLE), which has led to problematic heterogeneity in observational and interventional clinical studies across the field.ObjectiveTo create and validate classification criteria for DLE using 12 previously defined candidate criteria items.Design, setting, and participantsFor this diagnostic study, candidate criteria items were prospectively applied by dermatologists and dermatopathologists at clinical visits of patients with DLE or a condition that could be confused for DLE, termed a DLE mimicker, at academic dermatology practices across the United States, Poland, Japan, and South Korea. Data were collected from December 1, 2017, to February 1, 2019, and analyzed from March 1 to September 19, 2019.Main outcomes and measuresClinical features among these 2 groups were calculated and compared with χ2 or Fisher exact tests. Candidate models were identified using best subsets logistic regression analysis. Improvement tests, fit statistics, and discrimination were considered to choose a final model.ResultsNine sites contributed 215 patients, 15 of whom had missing or incomplete data. The final model for DLE classification criteria includes only clinical variables: atrophic scarring (3 points), location in the conchal bowl (2 points), preference for the head and neck (2 points), dyspigmentation (1 point), follicular hyperkeratosis and/or plugging (1 point), and erythematous to violaceous in color (1 point), with an area under the receiving operating characteristic curve of 0.91 (95% CI, 0.87-0.95). A score of at least 5 points yields a sensitivity of 84.1% and a specificity of 75.9% in the classification of DLE, with increasing scores yielding higher specificity.Conclusions and relevanceThese findings provide the initial validation of classification criteria for DLE for use in observational and clinical trials.

Dataset Information

ITGAM coding variant (rs1143679) influences the risk of renal disease, discoid rash and immunological manifestations in patients with systemic lupus erythematosus with European ancestry.

Publications

ITGAM coding variant (rs1143679) influences the risk of renal disease, discoid rash and immunological manifestations in patients with systemic lupus erythematosus with European ancestry.

Similar Datasets

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