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: OBJECTIVE
  It was hypothesised that the coding variant (R77H), rs1143679, within ITGAM could predict specific clinical manifestations associated with systemic lupus erythematosus (SLE).
  
  
  METHODS
  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.
  
  
  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).
  
  
  CONCLUSIONS
  These results show a strong association between the risk allele (A) at rs1143679 and renal disease, discoid rash and immunological manifestations of SLE.
authors: Genetic Epidemiology Unit, Arthritis and Immunology Research Program, Oklahoma Medical Research Foundation, 825 NE 13th Street, Oklahoma City, OK 73104, USA.
authors: Xana
authors: X
authors: Kim-Howard
authors: Amit K
authors: AK
authors: Maiti
authors: Juan-Manuel
authors: JM
authors: Anaya
authors: Gail R
authors: GR
authors: Bruner
authors: Elizabeth
authors: E
authors: Brown
authors: Joan T
authors: JT
authors: Merrill
authors: Jeffrey C
authors: JC
authors: Edberg
authors: Michelle A
authors: MA
authors: Petri
authors: John D
authors: JD
authors: Reveille
authors: Rosalind
authors: R
authors: Ramsey-Goldman
authors: Graciela S
authors: GS
authors: Alarcon
authors: Timothy J
authors: TJ
authors: Vyse
authors: Gary
authors: G
authors: Gilkeson
authors: Robert P
authors: RP
authors: Kimberly
authors: Judith A
authors: JA
authors: James
authors: Joel M
authors: JM
authors: Guthridge
authors: John B
authors: JB
authors: Harley
authors: Swapan K
authors: SK
authors: Nath
mesh_terms: D001323:Autoantibodies / Q000097:blood; D039481:CD11b Antigen / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008179:Lupus Erythematosus, Discoid / Q000235:genetics* / Q000276:immunology; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000276:immunology; D008181:Lupus Nephritis / Q000235:genetics / Q000276:immunology; D008297:Male
chemical_list: D001323:Autoantibodies; D039481:CD11b Antigen; C509295:ITGAM protein, human