LongevityMap variant
Entry Details
- Longevity Association
- Significant
- Population
- Italian (Central)
- Study Design
- The association between HP polymorphisms and longevity was investigated in 1072 (569 females, 18-106 years) individuals that were divided into three gender-specific age classes. HP*1F/S subtyping was also performed to check the possible existence for a preferential advantage of HP*1F or HP*1S allele.
- Conclusions
- HP*1/*1 genotype results associated to increased probability of young subjects of attaining longevity (Comparison 1: O.R. 1.709, p=0.0114) with a concomitant advantage of HP*1 allele (Comparison 1: O.R. 1.273, p=0.0194). On the other side, carriers of HP*2 allele displayed an overall significant disadvantage in reaching Age Class 2 (O.R. 0.585, p=0.0092). No significant differences were noticed between age groups either considering total HP*1F and HP*1S allele frequencies or according to HP 1/2 genotypes. HP polymorphisms was associated with longevity.
- Identifier
- HP
- Cytogenetic Location
- 16q22.2
- UCSC Genome Browser
- View 16q22.2 on the UCSC genome browser
Gene details
- HGNC symbol
- HP
- Aliases
- BP; HPA1S; HP2ALPHA2
- Common name
- haptoglobin
- Description
- 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]
- OMIM
- 140100
- Ensembl
- ENSG00000257017
- UniProt/Swiss-Prot
- A0A0C4DGL8_HUMAN
- Entrez Gene
- 3240
- UniGene
- 513711
- HapMap
- View on HapMap