rs11083561

This variant is located in the LTBP4 gene.

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GWAS Catalog Trait Associations (1)

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

Inguinal hernia

Choquet H et al. “Ancestry- and sex-specific effects underlying inguinal hernia susceptibility identified in a multiethnic genome-wide association study meta-analysis.” Human Molecular Genetics 31(13):2279-2293 (2022)

Allele C

OR 1.05

p 3.0e-8

N 228,873

Meta-analysisLarge GWAS

multi-ancestry

About LTBP4

The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other proteins upon activation. Defects in this gene may be a cause of cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]

View all LTBP4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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