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Decreased SMG7 expression associates with lupus-risk variants and elevated antinuclear antibody production

Objectives Following up the systemic lupus erythematosus (SLE) genome-wide association studies (GWAS) identification of NMNAT2 at rs2022013, we fine-mapped its 150a €...kb flanking regions containing NMNAT2 and SMG7 in a 15a €...292 case-control multi-ancestry population and tested functions of iden...

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Detalles Bibliográficos
Autores Principales: Deng, Yun, Zhao, Jian, Sakurai, Daisuke, Sestak, Andrea L, Osadchiy, Vadim, Langefeld, Carl D, Kaufman, Kenneth M, Kelly, Jennifer A, James, Judith A, Petri, Michelle A, Bae, Sang-Cheol, Alarcón-Riquelme, Marta E, Alarcón, Graciela S, Anaya, Juan-Manuel, Criswell, Lindsey A, Freedman, Barry I, Kamen, Diane L, Gilkeson, Gary S, Jacob, Chaim O, Merrill, Joan T, Gaffney, Patrick M, Sivils, Kathy Moser, Niewold, Timothy B, Ramsey-Goldman, Rosalind, Reveille, John D, Scofield, R Hal, Stevens, Anne M, Boackle, Susan A, Vilá, Luis M, Sohn, I I Woong, Lee, Seung, Chang, Deh-Ming, Song, Yeong Wook, Vyse, Timothy J, Harley, John B, Brown, Elizabeth E, Edberg, Jeffrey C, Kimberly, Robert P, Cantor, Rita M, Hahn, Bevra H, Grossman, Jennifer M, Tsao, Betty P
Formato: Artículo (Article)
Lenguaje:Inglés (English)
Publicado: BMJ Publishing Group 2016
Materias:
Antinuclear antibody
Immunoglobulin g
Ribonucleoprotein antibody
Sm antibody
Small interfering rna
Carrier protein
Messenger rna
Nicotinamide nucleotide adenylyltransferase
Allele
Antibody production
Antibody titer
Article
Case control study
Cell culture
Controlled study
Correlational study
Embryo
Ethnic difference
Gene
Gene expression
Gene function
Gene linkage disequilibrium
Gene silencing
Genetic association
Genetic transcription
Genetic variability
Genotype
Human
Human cell
Luciferase assay
Major clinical study
Multicenter study (topic)
Nmnat2 gene
Peripheral blood mononuclear cell
Priority journal
Promoter region
Quantitative trait locus
Raji cell line
Real time polymerase chain reaction
Regulatory mechanism
Risk
Single nucleotide polymorphism
Smg7 gene
Systemic lupus erythematosus
American indian
Caucasian
Female
Genetic predisposition
Genetics
Genome-wide association study
Genotyping technique
Hek293 cell line
Hispanic
Immunology
Male
Metabolism
Mononuclear cell
Pedigree
Risk factor
Alleles
American native continental ancestry group
Carrier proteins
European continental ancestry group
Genetic predisposition to disease
Genotyping techniques
Hek293 cells
Hispanic americans
Humans
Linkage disequilibrium
Nicotinamide-nucleotide adenylyltransferase
Real-time polymerase chain reaction
Risk factors
Autoantibodies
Gene polymorphism
systemic
antinuclear
human
messenger
mononuclear
Nmnat2 protein
Smg7 protein
Antibodies
Leukocytes
Lupus erythematosus
Rna
Acceso en línea:https://repository.urosario.edu.co/handle/10336/22456
https://doi.org/10.1136/annrheumdis-2015-208441

Internet

https://repository.urosario.edu.co/handle/10336/22456
https://doi.org/10.1136/annrheumdis-2015-208441

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