rs41272114

This variant is located in the LPA gene.

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GWAS Catalog Trait Associations (5)

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

lipoprotein A measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.37
p —
N 284,044
Major Consortium StudyLarge GWAS
multi-ancestry
Mack S et al. “A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms.” Journal of Lipid Research 58(9):1834-1844 (2017)
Allele T
OR 8.63
p 5.0e-86
N 13,781
Meta-analysisLarge GWAS
European

lipoprotein A measurement, apolipoprotein A 1 measurement

Mack S et al. “A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms.” Journal of Lipid Research 58(9):1834-1844 (2017)
Allele T
OR 5.73
p 3.0e-24
N 13,781
Meta-analysisLarge GWAS
European

coronary artery disease

van der Harst P et al. “Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.” Circulation Research 122(3):433-443 (2018)
Allele T
OR 0.12
p 3.0e-11
N 250,736
Large GWAS

plasma plasminogen measurement

Ma Q et al. “Genetic variants in PLG, LPA, and SIGLEC 14 as well as smoking contribute to plasma plasminogen levels.” Blood 124(20):3155-64 (2014)
Allele A
OR —
β 0.056
p 3.0e-8
N 3,244
Large GWAS
European
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ClinVar annotation

Likely Benign★★★☆
4 submitters4 publications

not specified; Lipoprotein(a) deficiency, congenital; LPA-related disorder

View on ClinVar →

About LPA

The protein encoded by this gene is a serine proteinase that inhibits the activity of tissue-type plasminogen activator I. The encoded protein constitutes a substantial portion of lipoprotein(a) and is proteolytically cleaved, resulting in fragments that attach to atherosclerotic lesions and promote thrombogenesis. Elevated plasma levels of this protein are linked to atherosclerosis. Depending on the individual, the encoded protein contains 2-43 copies of kringle-type domains. The allele represented here contains 15 copies of the kringle-type repeats and corresponds to that found in the reference genome sequence. [provided by RefSeq, Dec 2009]

View all LPA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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