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.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 Nat+Genet
2015 ; 47
(12
): 1457-1464
Nephropedia Template TP
gab.com Text
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English Wikipedia
Genetic association analyses implicate aberrant regulation of innate and adaptive
immunity genes in the pathogenesis of systemic lupus erythematosus
#MMPMID26502338
Bentham J
; Morris DL
; Graham DSC
; Pinder CL
; Tombleson P
; Behrens TW
; Martín J
; Fairfax BP
; Knight JC
; Chen L
; Replogle J
; Syvänen AC
; Rönnblom L
; Graham RR
; Wither JE
; Rioux JD
; Alarcón-Riquelme ME
; Vyse TJ
Nat Genet
2015[Dec]; 47
(12
): 1457-1464
PMID26502338
show ga
Systemic lupus erythematosus (SLE) is a genetically complex autoimmune disease
characterized by loss of immune tolerance to nuclear and cell surface antigens.
Previous genome-wide association studies (GWAS) had modest sample sizes, reducing
their scope and reliability. Our study comprised 7,219 cases and 15,991 controls
of European ancestry, constituting a new GWAS, a meta-analysis with a published
GWAS and a replication study. We have mapped 43 susceptibility loci, including
ten new associations. Assisted by dense genome coverage, imputation provided
evidence for missense variants underpinning associations in eight genes. Other
likely causal genes were established by examining associated alleles for
cis-acting eQTL effects in a range of ex vivo immune cells. We found an
over-representation (n = 16) of transcription factors among SLE susceptibility
genes. This finding supports the view that aberrantly regulated gene expression
networks in multiple cell types in both the innate and adaptive immune response
contribute to the risk of developing SLE.