rs7775397

This is a protein-altering variant in the TSBP1 gene.

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GWAS Catalog Trait Associations (5)

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

membranous glomerulonephritis

Stanescu HC et al. “Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.” The New England Journal of Medicine 364(7):616-26 (2011)

Allele G

OR 3.83

p 5.0e-71

N 2,894

Large GWAS

European

hemoglobin measurement

Oskarsson GR et al. “Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.” Communications Biology 3(1):189 (2020)

Allele G

OR —

β 0.042

p 1.0e-35

N 684,122

Large GWAS

European

chronic obstructive pulmonary disease

Moll M et al. “A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease.” American Journal of Physiology. Lung Cellular and Molecular Physiology 321(1):L130-L143 (2021)

Allele G

OR 1.12

p 3.0e-13

N 251,091

Large GWAS

multi-ancestry

lung carcinoma

Shen S et al. “A Large-Scale Exome-Wide Association Study Identifies Novel Germline Mutations in Lung Cancer.” American Journal of Respiratory and Critical Care Medicine 208(3):280-289 (2023)

Allele G

OR 0.14

p 1.0e-8

N 152,749

Large GWAS

European

Inguinal hernia

Wei J et al. “Identification of fifty-seven novel loci for abdominal wall hernia development and their biological and clinical implications: results from the UK Biobank.” Hernia : the Journal of Hernias and Abdominal Wall Surgery 26(1):335-348 (2022)

Allele T

OR 1.10

p 4.0e-8

N 275,546

Major Consortium StudyLarge GWAS

European

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Research that mentions this SNP (2)

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Preferential transmission of genetic risk variants of candidate loci at 6p21 from asymptomatic grandparents to mothers of children with neonatal lupus

AssociationN=134Amit Saxena et al.(2012)· Arthritis & Rheumatism

This transmission disequilibrium test study of 51 families with neonatal lupus examined preferential inheritance of genetic risk variants from asymptomatic grandparents to mothers of affected children. Two TNF-alpha region and HLA-boundary variants showed highly significant preferential maternal transmission: rs1800629 (TNF-308 A allele, OR=6.67, P=3.93×10⁻⁴) and rs7775397 (C6orf10 G allele, OR=35.0, P=3.74×10⁻⁵), suggesting multi-generational genetic predisposition to autoimmunity despite asymptomatic grandparental phenotypes.

Traits studied:Anti-SSA/Ro antibodiesAnti-SSB/La antibodiesCardiac neonatal lupusCutaneous neonatal lupusNeonatal lupus

PubMed DOI Metascience Observatory

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Identification of candidate loci at 6p21 and 21q22 in a genome‐wide association study of cardiac manifestations of neonatal lupus

AssociationN=3,467Robert M. Clancy et al.(2010)· Arthritis & Rheumatism

Genome-wide association study of 116 children with cardiac neonatal lupus (116 cases, 3,351 controls) identified 17 significant SNPs in the HLA region at 6p21, with the strongest association at rs3099844 (OR 3.34, P=4.52×10⁻¹⁰) near the MICB gene. Non-HLA associations were found at rs743446 (21q22, OR 2.40, P=5.45×10⁻⁶), rs2403106 (12q21, OR 2.48, P=2.62×10⁻⁶), rs1391511 (10p15, OR 1.84, P=6.6×10⁻⁶), and rs1890645 (1q31, OR 2.98, P=3.52×10⁻⁶). Results suggest genetic polymorphisms in inflammatory and apoptotic pathways contribute to cardiac injury in fetuses exposed to maternal anti-Ro/SSA antibodies.

Traits studied:Atrioventricular blockCardiac neonatal lupusCardiomyopathyCongenital heart blockNeonatal lupus erythematosus

rs7775397

GWAS Catalog Trait Associations (5)

membranous glomerulonephritis

hemoglobin measurement

chronic obstructive pulmonary disease

lung carcinoma

Inguinal hernia

Research that mentions this SNP (2)

About TSBP1

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