rs1877444

This variant is located in the TNNI2 gene.

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GWAS Catalog Trait Associations (1)

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

level of lymphocyte-specific protein 1 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.07

p 3.0e-23

N 47,745

Large GWAS

European

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ClinVar annotation

Benign★★★☆

3 submitters1 publication

View on ClinVar →

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Research that mentions this SNP (1)

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Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot

AssociationN=2,768Katelyn S. Weymouth et al.(2011)· American Journal of Medical Genetics Part A

Association study examining 15 muscle contractile genes in isolated clubfoot. In a discovery cohort of 581 multiplex and simplex families (224 multiplex, 357 simplex) enriched for non-Hispanic white and Hispanic families, positive associations (p<0.05) were found with SNPs in 12 genes. Key findings include maternal genotypic effects for TNNC2/rs383112 (OR 1.38, 95% CI 1.13-1.72) and inherited protective effects for TNNC2/rs4629 (RR 0.74) and TNNC2/rs383112 (RR 0.77). TPM1 associations were replicated across discovery and validation datasets (rs4075583 p=0.01, rs1972041 p=0.000074, rs12148828 p=0.04). Multiple gene interactions identified between muscle contractile genes.

Traits studied:Distal arthrogryposisIsolated clubfoot

PubMed DOI Metascience Observatory

About TNNI2

This gene encodes a fast-twitch skeletal muscle protein, a member of the troponin I gene family, and a component of the troponin complex including troponin T, troponin C and troponin I subunits. The troponin complex, along with tropomyosin, is responsible for the calcium-dependent regulation of striated muscle contraction. Mouse studies show that this component is also present in vascular smooth muscle and may play a role in regulation of smooth muscle function. In addition to muscle tissues, this protein is found in corneal epithelium, cartilage where it is an inhibitor of angiogenesis to inhibit tumor growth and metastasis, and mammary gland where it functions as a co-activator of estrogen receptor-related receptor alpha. This protein also suppresses tumor growth in human ovarian carcinoma. Mutations in this gene cause myopathy and distal arthrogryposis type 2B. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]