rs6921438

This variant is located in the POLR1C gene.

▶

GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

vascular endothelial growth factor A level

Choi SH et al. “Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies.” Plos Genetics 12(2):e1005874 (2016)

Allele A

OR 0.64

p —

N 13,312

Meta-analysisLarge GWAS

European

Folkersen L et al. “Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.” Nature Metabolism 2(10):1135-1148 (2020)

Allele A

OR 0.44

p —

N 21,758

Large GWAS

European

Zhao JH et al. “Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets.” Nature Immunology 24(9):1540-1551 (2023)

Allele A

OR 0.43

p 4.0e-323

N 14,744

Large GWAS

multi-ancestry

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele A

OR 0.81

p —

N 10,708

Large GWAS

European

Ahola-Olli AV et al. “Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors.” American Journal of Human Genetics 100(1):40-50 (2017)

Allele A

OR 0.49

p 2.0e-171

N 7,118

Large GWAS

European

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)

Allele A

OR —

β 0.420

p 8.0e-71

N 3,301

Large GWAS

European

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)

Allele A

OR 0.22

p 2.0e-16

N 2,935

Large GWAS

Greater Middle Eastern (Middle Eastern, North African or Persian)

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)

Allele A

OR 0.62

p 3.0e-24

N 466

Small GWAS

African American or Afro-Caribbean

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)

Allele A

OR 0.18

p 3.0e-21

N 5,367

Large GWAS

European

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele A

OR 0.26

p 3.0e-94

N 10,708

Large GWAS

European

▶

Research that mentions this SNP (1)

▶

Polymorphisms in the CTSH gene may influence the progression of diabetic retinopathy: a candidate-gene study in the Danish Cohort of Pediatric Diabetes 1987 (DCPD1987)

AssociationN=130Steffen U. Thorsen et al.(2015)· Graefe's Archive for Clinical and Experimental Ophthalmology

This candidate gene study of 130 Danish children with type 1 diabetes examined associations between 20 diabetes-related SNPs and diabetic retinopathy progression over 16 years. The CTSH/rs3825932 variant was associated with reduced risk of progression to proliferative diabetic retinopathy (OR=0.20, p=2.4×10⁻³, p_adjust=0.048), while ERBB3/rs2292239 was associated with increased risk of two-step DR progression (OR=2.76, p=7.5×10⁻³, p_adjust=0.15). The CTSH association remained significant after multiple testing correction.

Traits studied:Diabetic retinopathyProliferative diabetic retinopathyType 1 diabetes mellitus

PubMed DOI Metascience Observatory

About POLR1C

The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Mutations in this gene have been associated with Treacher Collins syndrome (TCS) and hypomyelinating leukodystrophy 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

rs6921438

GWAS Catalog Trait Associations (3)

vascular endothelial growth factor A level

blood protein amount

protein measurement

Research that mentions this SNP (1)

About POLR1C

Community Wiki

Comments