rs27293

This variant is located in the LNPEP gene.

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GWAS Catalog Trait Associations (2)

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

diastolic blood pressure

Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)

Allele A

OR 0.14

p 3.0e-11

N 526,001

Large GWAS

European

systemic juvenile idiopathic arthritis, polyarticular juvenile idiopathic arthritis, rheumatoid factor negative, oligoarticular juvenile idiopathic arthritis

Hinks A et al. “Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.” Nature Genetics 45(6):664-9 (2013)

Allele A

OR 1.31

p 7.0e-9

N 15,872

Large GWAS

European

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Research that mentions this SNP (1)

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Disease‐Associated Single‐Nucleotide Polymorphisms From Noncoding Regions in Juvenile Idiopathic Arthritis Are Located Within or Adjacent to Functional Genomic Elements of Human Neutrophils and CD4+ T Cells

FunctionalKaiyu Jiang et al.(2015)· Arthritis & Rheumatology

This functional study investigates disease-associated SNPs from non-coding genomic regions in juvenile idiopathic arthritis (JIA) by mapping enhancer-associated histone marks (H3K4me1 and H3K27ac) in human neutrophils and CD4+ T cells. The authors identified H3K4me1 and/or H3K27ac marks in 15 of 22 JIA risk regions in neutrophils and 18 of 22 regions in CD4+ T cells, and confirmed non-coding RNA transcripts at rs4705862 and rs6894249 loci in neutrophils, demonstrating that JIA-associated genetic risk resides largely within functional, non-coding regulatory elements.

Traits studied:Juvenile Idiopathic Arthritis (JIA)

PubMed DOI Metascience Observatory

About LNPEP

This gene encodes a zinc-dependent aminopeptidase that cleaves vasopressin, oxytocin, lys-bradykinin, met-enkephalin, dynorphin A and other peptide hormones. The protein can be secreted in maternal serum, reside in intracellular vesicles with the insulin-responsive glucose transporter GLUT4, or form a type II integral membrane glycoprotein. The protein catalyzes the final step in the conversion of angiotensinogen to angiotensin IV (AT4) and is also a receptor for AT4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]