rs3798220

This is a variant in the LPA gene that changes a isoleucine to an methionine.

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GWAS Catalog Trait Associations (7)

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 C
OR 0.68
p —
N 284,044
Major Consortium StudyLarge GWAS
multi-ancestry

low density lipoprotein cholesterol 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 C
OR 0.16
p 3.0e-68
N 355,197
Major Consortium StudyLarge GWAS
multi-ancestry

apolipoprotein B 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 C
OR 0.15
p 3.0e-63
N 354,097
Major Consortium StudyLarge GWAS
multi-ancestry

total cholesterol 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 C
OR 0.14
p 2.0e-52
N 355,858
Major Consortium StudyLarge GWAS
multi-ancestry

triglyceride 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 C
OR 0.09
p 1.0e-24
N 355,577
Major Consortium StudyLarge GWAS
multi-ancestry

cholesteryl ester measurement, blood VLDL cholesterol amount

Riveros-Mckay F et al. “The influence of rare variants in circulating metabolic biomarkers.” Plos Genetics 16(3):e1008605 (2020)
Allele T
OR 0.55
p 6.0e-17
N 7,142
Large GWAS
European

coronary artery disease

Schunkert H et al. “Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.” Nature Genetics 43(4):333-338 (2011)
Allele C
OR 1.51
p 3.0e-11
N 86,995
Large GWAS
European
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ClinVar annotation

Benign
1 submitter2 publications

LIPOPROTEIN(a) POLYMORPHISM

View on ClinVar →
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Research that mentions this SNP (1)

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Lipoprotein(a) plasma levels are not associated with incident microvascular complications in type 2 diabetes mellitus
AssociationN=1,850Sunny S. Singh et al.(2020)· Diabetologia

In a prospective cohort study of 1,850 individuals with type 2 diabetes (DiaGene study, 6.97 years follow-up), elevated Lp(a) plasma levels (≥30 mg/dl) and the LPA SNPs rs10455872 and rs3798220 showed no significant associations with prevalent or incident microvascular complications (retinopathy, nephropathy, neuropathy). Although the two LPA SNPs confirmed their known effects on Lp(a) levels, explaining 30% of variance jointly, this had no clinical impact on microvascular disease development in type 2 diabetes.

Traits studied:Diabetic nephropathyDiabetic neuropathyDiabetic retinopathyLipoprotein(a) levelsMicrovascular complications in type 2 diabetes
PubMedDOIMetascience Observatory

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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