rs4917014
▶GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
level of serum globulin type protein
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.04
p 2.0e-46
N 325,292
Major Consortium StudyLarge GWAS
multi-ancestry
systemic lupus erythematosus
Khunsriraksakul C et al. “Multi-ancestry and multi-trait genome-wide association meta-analyses inform clinical risk prediction for systemic lupus erythematosus.” Nature Communications 14(1):668 (2023)
Allele A
OR 0.09
p 5.0e-31
N 718,496
Large GWAS
multi-ancestry
Bentham J et al. “Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.” Nature Genetics 47(12):1457-1464 (2015)
Allele A
OR 1.18
p 6.0e-14
N 14,267
Large GWAS
European
Han JW et al. “Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.” Nature Genetics 41(11):1234-7 (2009)
Allele A
OR 1.39
p 3.0e-23
N 2,252
Large GWAS
East Asian
blood protein amount
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.03
p 1.0e-24
N 325,292
Major Consortium StudyLarge GWAS
multi-ancestry
high density lipoprotein cholesterol measurement
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.02
p 7.0e-13
N 325,634
Major Consortium StudyLarge GWAS
multi-ancestry
Spracklen CN et al. “Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.” Human Molecular Genetics 26(9):1770-1784 (2017)
Allele G
OR 0.02
p 9.0e-11
N 222,097
Large GWAS
multi-ancestry
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele G
OR —
β 0.020
p 4.0e-8
N 94,674
Large GWAS
multi-ancestry
Willer CJ et al. “Discovery and refinement of loci associated with lipid levels.” Nature Genetics 45(11):1274-1283 (2013)
Allele G
OR —
β 0.022
p 1.0e-8
N 94,595
Large GWAS
European
apolipoprotein A 1 measurement
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.02
p 2.0e-11
N 323,833
Major Consortium StudyLarge GWAS
multi-ancestry
low density lipoprotein cholesterol measurement
Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele T
OR 0.01
p 2.0e-9
N 361,194
Large GWAS
European
inflammatory bowel disease
Khrom M et al. “Sex-Dimorphic Analyses Identify Novel and Sex-Specific Genetic Associations in Inflammatory Bowel Disease.” Inflammatory Bowel Diseases 29(10):1622-1632 (2023)
Allele C
OR 1.09
p 2.0e-8
N 40,503
Large GWAS
European
sex interaction measurement, inflammatory bowel disease
Khrom M et al. “Sex-Dimorphic Analyses Identify Novel and Sex-Specific Genetic Associations in Inflammatory Bowel Disease.” Inflammatory Bowel Diseases 29(10):1622-1632 (2023)
Allele C
OR —
p 2.0e-8
N 73,704
Large GWAS
European
▶Research that mentions this SNP (1)
▶Down-regulated expression of IKZF1 mRNA in peripheral blood mononuclear cells from patients with systemic lupus erythematosusFunctionalN=120Wenlong Hu et al.(2011)· Rheumatology International
Down-regulated expression of IKZF1 mRNA in peripheral blood mononuclear cells from patients with systemic lupus erythematosus
FunctionalN=120Wenlong Hu et al.(2011)· Rheumatology International
Real-time RT-PCR study in 60 SLE patients and 60 controls found significantly decreased IKZF1 mRNA expression in patient peripheral blood mononuclear cells (0.156 ± 0.14 vs 0.540 ± 0.40, P < 0.001). No significant association was found between rs4917014 genotype and IKZF1 expression levels (P = 0.805) or with SLEDAI disease activity scores.
Traits studied:Systemic lupus erythematosus
This variant is in our database but has no known associations or PRS memberships yet.
Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…