title: A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus.
abstract: We identified and replicated an association between ITGAM (CD11b) at 16p11.2 and risk of systemic lupus erythematosus (SLE) in 3,818 individuals of European descent. The strongest association was at a nonsynonymous SNP, rs1143679 (P = 1.7 x 10(-17), odds ratio = 1.78). We further replicated this association in two independent samples of individuals of African descent (P = 0.0002 and 0.003; overall meta-analysis P = 6.9 x 10(-22)). The genetic association between ITGAM and SLE implicates the alpha(M)beta2-integrin adhesion pathway in disease development.
authors.affiliation: Genetic Epidemiology Unit, Oklahoma Medical Research Foundation, 825 NE 13th St., Oklahoma City, Oklahoma 73104, USA. Swapan-Nath@omrf.org
authors.forename: Swapan K
authors.initials: SK
authors.lastname: Nath
authors.forename: Shizhong
authors.initials: S
authors.lastname: Han
authors.forename: Xana
authors.initials: X
authors.lastname: Kim-Howard
authors.forename: Jennifer A
authors.initials: JA
authors.lastname: Kelly
authors.forename: Parvathi
authors.initials: P
authors.lastname: Viswanathan
authors.forename: Gary S
authors.initials: GS
authors.lastname: Gilkeson
authors.forename: Wei
authors.initials: W
authors.lastname: Chen
authors.forename: Cheng
authors.initials: C
authors.lastname: Zhu
authors.forename: Rodger P
authors.initials: RP
authors.lastname: McEver
authors.forename: Robert P
authors.initials: RP
authors.lastname: Kimberly
authors.forename: Marta E
authors.initials: ME
authors.lastname: Alarcón-Riquelme
authors.forename: Timothy J
authors.initials: TJ
authors.lastname: Vyse
authors.forename: Quan-Zhen
authors.initials: QZ
authors.lastname: Li
authors.forename: Edward K
authors.initials: EK
authors.lastname: Wakeland
authors.forename: Joan T
authors.initials: JT
authors.lastname: Merrill
authors.forename: Judith A
authors.initials: JA
authors.lastname: James
authors.forename: Kenneth M
authors.initials: KM
authors.lastname: Kaufman
authors.forename: Joel M
authors.initials: JM
authors.lastname: Guthridge
authors.forename: John B
authors.initials: JB
authors.lastname: Harley
mesh_terms: D020413:3' Untranslated Regions; D001741:Black or African American; D000483:Alleles; D039481:CD11b Antigen / Q000235:genetics*; D016022:Case-Control Studies; D002885:Chromosomes, Human, Pair 16; D015331:Cohort Studies; D016001:Confidence Intervals; D005091:Exons; D005787:Gene Frequency; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000208:ethnology / Q000235:genetics*; D008957:Models, Genetic; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D011336:Probability; D011401:Promoter Regions, Genetic; D012307:Risk Factors; D044465:White People
chemical_list: D020413:3' Untranslated Regions; D039481:CD11b Antigen; D005819:Genetic Markers; C509295:ITGAM protein, human