Alpha-1 antitrypsin heterozygosity plays a positive role in attainment of longevity

Giuseppina Colonna Romano, Calogero Caruso, Enrico Hoffmann, Domenico Lio, Giuseppina Candore, Valentina Orlando, Claudio Franceschi, Giuseppina Colonna-Romano, Florinda Listì, Domenico Lio, Giuseppina Candore, Maria Paola Grimaldi, Giuseppe Paolisso, Calogero Caruso, Florinda Listi', Maria Paola Grimaldi, Valentina Orlando

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3 Citazioni (Scopus)


Genes involved in cardiovascular diseases (CVD) play an opposite role in human longevity. The a1-antitrypsin (AAT) is a serineprotease inhibitor required for the prevention of proteolytic tissue damage, by neutrophil elastase. The role of AAT in CVD has not been definitively assessed and its effect on longevity has not yet fully been studied. To clarify these points, we have studied the distribution of AAT allele variants in 3 cohorts: 127 young patients affected by acute myocardial infarction (AMI), 255 young controls and 143 centenarians from Sicily. The Z allele frequency was most frequent in centenarians (13.3%), intermediate in healthy young controls (3.1%) and less frequent in AMI patients (1.2%) (P = 0.0000001). The heterozygous MZ genotype was significantly over represented in centenarians (38/143) and under represented in AMI patients (3/127) with intermediate values in young controls (16/255) (P = 0.0000001). After adjustment for well-recognized AMI risk factors, the MZ genotype still predicted a significant negative risk factor for developing AMI in the Sicilian population. Thus, our data show a positive role of MZ heterozygosity in attainment of successful ageing linked to the positive effects of this genotype versus the cardiovascular ischemicdiseases.
Lingua originaleEnglish
pagine (da-a)139-145
Numero di pagine7
Stato di pubblicazionePublished - 2007

All Science Journal Classification (ASJC) codes

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  • ???subjectarea.asjc.2900.2909???
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