rs5471

This is a regulatory region variant variant in the HP gene.

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GWAS Catalog Trait Associations (12)

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

total cholesterol measurement

Kamiza AB et al. “Multi-trait discovery and fine-mapping of lipid loci in 125,000 individuals of African ancestry.” Nature Communications 14(1):5403 (2023)
Allele C
OR 0.12
p 6.0e-102
N 125,000
Large GWAS
African American or Afro-Caribbean, Sub-Saharan African, African unspecified
Klarin D et al. “Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.” Nature Genetics 50(11):1514-1523 (2018)
Allele C
OR 0.20
p 1.0e-70
N 297,626
Major Consortium StudyLarge GWAS
multi-ancestry
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.12
p 7.0e-62
N 112,278
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean
Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele C
OR 0.18
p 4.0e-97
N 99,432
Large GWAS
African American or Afro-Caribbean, African unspecified

low density lipoprotein cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele C
OR 0.16
p 1.0e-79
N 99,432
Large GWAS
African American or Afro-Caribbean, African unspecified
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.10
p 2.0e-39
N 578,955
Major Consortium StudyLarge GWAS
multi-ancestry
Klarin D et al. “Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.” Nature Genetics 50(11):1514-1523 (2018)
Allele C
OR 0.18
p 5.0e-57
N 297,626
Major Consortium StudyLarge GWAS
multi-ancestry

haptoglobin measurement

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele C
OR 1.19
p 6.0e-60
N 466
Small GWAS
African American or Afro-Caribbean

level of haptoglobin in blood serum

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele C
OR 1.17
p 2.0e-56
N 466
Small GWAS
African American or Afro-Caribbean

high density lipoprotein cholesterol measurement

Kamiza AB et al. “Multi-trait discovery and fine-mapping of lipid loci in 125,000 individuals of African ancestry.” Nature Communications 14(1):5403 (2023)
Allele C
OR 0.06
p 3.0e-53
N 125,000
Large GWAS
African American or Afro-Caribbean, Sub-Saharan African, African unspecified
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.07
p 5.0e-18
N 578,125
Major Consortium StudyLarge GWAS
multi-ancestry
Klarin D et al. “Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.” Nature Genetics 50(11):1514-1523 (2018)
Allele C
OR 0.07
p 2.0e-11
N 297,626
Major Consortium StudyLarge GWAS
multi-ancestry
Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele C
OR 0.06
p 1.0e-13
N 99,432
Large GWAS
African American or Afro-Caribbean, African unspecified

level of izumo sperm-egg fusion protein 4 in blood serum

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele C
OR 0.92
p 8.0e-30
N 466
Small GWAS
African American or Afro-Caribbean

heparin cofactor 2 measurement

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele C
OR 0.87
p 5.0e-26
N 466
Small GWAS
African American or Afro-Caribbean

non-high density lipoprotein cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele C
OR 0.14
p 2.0e-24
N 99,432
Large GWAS
African American or Afro-Caribbean, African unspecified

drug use measurement, Hypercholesterolemia

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.16
p 7.0e-15
N 55,505
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean
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ClinVar annotation

affects
1 submitter1 publication

Anhaptoglobinemia

View on ClinVar →

About HP

This gene encodes a preproprotein, which is processed to yield both alpha and beta chains, which subsequently combine as a tetramer to produce haptoglobin. Haptoglobin functions to bind free plasma hemoglobin, which allows degradative enzymes to gain access to the hemoglobin, while at the same time preventing loss of iron through the kidneys and protecting the kidneys from damage by hemoglobin. Mutations in this gene and/or its regulatory regions cause ahaptoglobinemia or hypohaptoglobinemia. This gene has also been linked to diabetic nephropathy, the incidence of coronary artery disease in type 1 diabetes, Crohn's disease, inflammatory disease behavior, primary sclerosing cholangitis, susceptibility to idiopathic Parkinson's disease, and a reduced incidence of Plasmodium falciparum malaria. The protein encoded also exhibits antimicrobial activity against bacteria. A similar duplicated gene is located next to this gene on chromosome 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]

View all HP variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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