Document Detail


ACP1 and human adaptability: association with past malarial morbidity in the Sardinian population.
MedLine Citation:
PMID:  11748814     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Acid Phosphatase locus 1 (ACP1) is a polymorphic enzyme controlled by a locus on chromosome 2 with three common codominant alleles: *A, *B, and *C. ACP1 shows two major isoforms, F and S. The ratio of their concentration differs markedly among genotypes. Two functions have been proposed for the enzyme: flavin-mononucleotide phosphatase and tyrosine phosphatase activity. An association between ACP1 polymorphism and past malarial morbidity in Sardinia and the Po Valley has been described. Genetic polymorphisms could contribute to natural resistance or susceptibility to the disease. On the other hand, malaria pressure may select for genes that increase susceptibility to common diseases of modern civilization. Thus, the association between ACP1 and malaria in Sardinia in the light of recent understanding of the function of ACP1 and the molecular basis of malaria pathophysiology, especially aspects of the structure of band 3 protein (B3P) and the role of cytokines have been revisited. There is a significant negative correlation between ACP1 S isoform concentration, directly related to the ACP1*C allele, and past malarial morbidity in Sardinia. Populations subjected in the past to a heavy malarial burden show, at present, a lower concentration of the S isoform compared to a nearby malaria-free population, suggesting that genotypes with high S isoform concentration have been subjected to negative selection in a malarial environment. Correlation analysis and analysis of the joint G-6-PD/ACP1 distribution suggest that the relationship between past endemic malaria and the S isoform has not been mediated by glucose-6-phosphate dehydrogenase (G-6-PD) deficiency, thus pointing to a direct effect of malaria on ACP1.
Authors:
E Bottini; R Palmarino; P Lucarelli; F Lista; N Bottini
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Publication Detail:
Type:  Journal Article; Multicenter Study    
Journal Detail:
Title:  American journal of human biology : the official journal of the Human Biology Council     Volume:  13     ISSN:  1042-0533     ISO Abbreviation:  Am. J. Hum. Biol.     Publication Date:    2001 Nov-Dec
Date Detail:
Created Date:  2001-12-18     Completed Date:  2002-01-17     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  8915029     Medline TA:  Am J Hum Biol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  753-60     Citation Subset:  IM    
Copyright Information:
Copyright 2001 Wiley-Liss, Inc.
Affiliation:
Division of Preventive and Social Pediatrics, Department of Biopathology and Imaging Diagnostics, University of Rome, Tor Vergata, School of Medicine, Rome, Italy. bottini@med.uniroma2.it
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MeSH Terms
Descriptor/Qualifier:
Acclimatization / genetics*
Adolescent
Altitude
Child
Female
Glucosephosphate Dehydrogenase Deficiency / genetics*
Humans
Immunity, Innate / genetics
Isoenzymes / genetics*
Italy / epidemiology
Linear Models
Malaria / epidemiology*,  genetics*
Male
Models, Genetic
Polymorphism, Genetic
Protein Tyrosine Phosphatases / genetics*
Proto-Oncogene Proteins*
Chemical
Reg. No./Substance:
0/Isoenzymes; 0/Proto-Oncogene Proteins; EC 3.1.3.48/ACP1 protein, human; EC 3.1.3.48/Protein Tyrosine Phosphatases

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