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

Xana Kim-Howard, Amit K. Maiti, Juan Manuel Anaya, Gail R. Bruner, Elizabeth Brown, Joan T. Merrill, Jeffrey C. Edberg, Michelle Petri, John D. Reveille, Rosalind Ramsey-Goldman, Graciela S. Alarcon, Timothy J. Vyse, Gary Gilkeson, Robert P. Kimberly, Judith A. James, Joel M. Guthridge, John B. Harley, Swapan K. Nath

Research output: Contribution to journalArticle

Abstract

Purpose: It was hypothesised that the coding variant (R77H), rs1143679, within ITGAM could predict specific clinical manifestations associated with systemic lupus erythematosus (SLE). Method: 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 χ2 tests were used to assess statistical significance. Results: 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). Conclusion: These results show a strong association between the risk allele (A) at rs1143679 and renal disease, discoid rash and immunological manifestations of SLE.

Original languageEnglish (US)
Pages (from-to)1329-1332
Number of pages4
JournalAnnals of the Rheumatic Diseases
Volume69
Issue number7
DOIs
StatePublished - Jul 2010

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Exanthema
Systemic Lupus Erythematosus
Kidney
Logistics
Gene Frequency
Logistic Models
Alleles

ASJC Scopus subject areas

  • Rheumatology
  • Immunology
  • Biochemistry, Genetics and Molecular Biology(all)
  • Immunology and Allergy

Cite this

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; Maiti, Amit K.; Anaya, Juan Manuel; Bruner, Gail R.; Brown, Elizabeth; Merrill, Joan T.; Edberg, Jeffrey C.; Petri, Michelle; Reveille, John D.; Ramsey-Goldman, Rosalind; Alarcon, Graciela S.; Vyse, Timothy J.; Gilkeson, Gary; Kimberly, Robert P.; James, Judith A.; Guthridge, Joel M.; Harley, John B.; Nath, Swapan K.

In: Annals of the Rheumatic Diseases, Vol. 69, No. 7, 07.2010, p. 1329-1332.

Research output: Contribution to journalArticle

Kim-Howard, X, Maiti, AK, Anaya, JM, Bruner, GR, Brown, E, Merrill, JT, Edberg, JC, Petri, M, Reveille, JD, Ramsey-Goldman, R, Alarcon, GS, Vyse, TJ, Gilkeson, G, Kimberly, RP, James, JA, Guthridge, JM, Harley, JB & Nath, SK 2010, 'ITGAM coding variant (rs1143679) influences the risk of renal disease, discoid rash and immunological manifestations in patients with systemic lupus erythematosus with European ancestry', Annals of the Rheumatic Diseases, vol. 69, no. 7, pp. 1329-1332. https://doi.org/10.1136/ard.2009.120543
Kim-Howard, Xana ; Maiti, Amit K. ; Anaya, Juan Manuel ; Bruner, Gail R. ; Brown, Elizabeth ; Merrill, Joan T. ; Edberg, Jeffrey C. ; Petri, Michelle ; Reveille, John D. ; Ramsey-Goldman, Rosalind ; Alarcon, Graciela S. ; Vyse, Timothy J. ; Gilkeson, Gary ; Kimberly, Robert P. ; James, Judith A. ; Guthridge, Joel M. ; Harley, John B. ; Nath, Swapan K. / ITGAM coding variant (rs1143679) influences the risk of renal disease, discoid rash and immunological manifestations in patients with systemic lupus erythematosus with European ancestry. In: Annals of the Rheumatic Diseases. 2010 ; Vol. 69, No. 7. pp. 1329-1332.
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title = "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 = "Purpose: It was hypothesised that the coding variant (R77H), rs1143679, within ITGAM could predict specific clinical manifestations associated with systemic lupus erythematosus (SLE). Method: 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 χ2 tests were used to assess statistical significance. Results: 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). Conclusion: These results show a strong association between the risk allele (A) at rs1143679 and renal disease, discoid rash and immunological manifestations of SLE.",
author = "Xana Kim-Howard and Maiti, {Amit K.} and Anaya, {Juan Manuel} and Bruner, {Gail R.} and Elizabeth Brown and Merrill, {Joan T.} and Edberg, {Jeffrey C.} and Michelle Petri and Reveille, {John D.} and Rosalind Ramsey-Goldman and Alarcon, {Graciela S.} and Vyse, {Timothy J.} and Gary Gilkeson and Kimberly, {Robert P.} and James, {Judith A.} and Guthridge, {Joel M.} and Harley, {John B.} and Nath, {Swapan K.}",
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TY - JOUR

T1 - ITGAM coding variant (rs1143679) influences the risk of renal disease, discoid rash and immunological manifestations in patients with systemic lupus erythematosus with European ancestry

AU - Kim-Howard, Xana

AU - Maiti, Amit K.

AU - Anaya, Juan Manuel

AU - Bruner, Gail R.

AU - Brown, Elizabeth

AU - Merrill, Joan T.

AU - Edberg, Jeffrey C.

AU - Petri, Michelle

AU - Reveille, John D.

AU - Ramsey-Goldman, Rosalind

AU - Alarcon, Graciela S.

AU - Vyse, Timothy J.

AU - Gilkeson, Gary

AU - Kimberly, Robert P.

AU - James, Judith A.

AU - Guthridge, Joel M.

AU - Harley, John B.

AU - Nath, Swapan K.

PY - 2010/7

Y1 - 2010/7

N2 - Purpose: It was hypothesised that the coding variant (R77H), rs1143679, within ITGAM could predict specific clinical manifestations associated with systemic lupus erythematosus (SLE). Method: 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 χ2 tests were used to assess statistical significance. Results: 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). Conclusion: These results show a strong association between the risk allele (A) at rs1143679 and renal disease, discoid rash and immunological manifestations of SLE.

AB - Purpose: It was hypothesised that the coding variant (R77H), rs1143679, within ITGAM could predict specific clinical manifestations associated with systemic lupus erythematosus (SLE). Method: 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 χ2 tests were used to assess statistical significance. Results: 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). Conclusion: These results show a strong association between the risk allele (A) at rs1143679 and renal disease, discoid rash and immunological manifestations of SLE.

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