rs11125529

This is a downstream gene variant variant in the ACYP2 gene.

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GWAS Catalog Trait Associations (1)

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

chromosome, telomeric region length

Liu WS et al. “Whole exome sequencing analyses reveal novel genes in telomere length and their biomedical implications.” Geroscience 46(5):5365-5385 (2024)

Allele A

OR 0.05

p 2.0e-43

N 327,790

Large GWAS

European

Codd V et al. “Identification of seven loci affecting mean telomere length and their association with disease.” Nature Genetics 45(4):422-7, 427e1-2 (2013)

Allele A

OR 0.06

p 8.0e-10

N 37,684

Large GWAS

European

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ClinVar annotation

Association

1 submitter

Chronic osteomyelitis

View on ClinVar →

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Research that mentions this SNP (2)

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Genetic determinants of telomere length and risk of pancreatic cancer: A PANDoRA study

AssociationN=6,700Campa D. et al.(2019)· International Journal of Cancer

This case-control association study analyzed 10 telomere-length-associated SNPs in relation to pancreatic cancer risk in 2,374 cases and 4,326 controls from the PANDoRA consortium. The strongest association was with TERT-rs2736100 (OR=1.54, p=1.54×10⁻¹⁰), and a novel protective association was found with NAF1-rs7675998 (OR=0.80, p=1.87×10⁻⁶). A genetic telomere length score (teloscore) combining these variants reached genome-wide significance for PDAC risk (p=2.98×10⁻⁹ for highest vs. lowest quintile).

Traits studied:Lymphocyte telomere lengthPancreatic ductal adenocarcinoma

PubMed DOI Metascience Observatory

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Meta-analysisN=1,513,186Unknown

Mendelian randomization study of 16 genetic variants in 10 telomere-related loci using summary data from 420,081 cancer cases and 1,093,105 controls. Genetically increased telomere length was associated with higher cancer risk (glioma OR 5.27 [3.15-8.81], lung adenocarcinoma 3.19 [2.40-4.22], neuroblastoma 2.98 [1.92-4.62]) but reduced risk for cardiovascular diseases and some immune conditions.

Traits studied:Abdominal aortic aneurysmAlzheimer's diseaseBladder cancerCeliac diseaseCoronary heart diseaseEndometrial cancerGliomaInterstitial lung diseaseKidney cancerLung adenocarcinomaMelanomaNeuroblastomaSerous low-malignancy-potential ovarian cancerTelomere lengthTesticular cancer

DOI Metascience Observatory

About ACYP2

Acylphosphatase can hydrolyze the phosphoenzyme intermediate of different membrane pumps, particularly the Ca2+/Mg2+-ATPase from sarcoplasmic reticulum of skeletal muscle. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte acylphosphatase on the basis of their tissue localization. This gene encodes the muscle-type isoform (MT). An increase of the MT isoform is associated with muscle differentiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]