A Lisa

National Research Council, Roma, Latium, Italy

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Publications (16)31.25 Total impact

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    ABSTRACT: Abstract We analyze the geographic location of 77,451 different Italian surnames (17,579,891 individuals) obtained from the lists of telephone subscribers of the year 1993. By using a specific neural network analysis (Self-Organizing Maps, SOMs), we automatically identify the geographic origin of 49,117 different surnames. To validate the methodology, we compare the results to a study, previously conducted, on the same database, with accurate supervised methods. By comparing the results, we find an overlap of 97%, meaning that the SOMs methodology is highly reliable and well traces back the geographic origin of surnames at the time of their introduction (Late Middle Ages/Renaissance in Italy). SOMs results enables one to distinguish monophyletic surnames from polyphyletic ones, that is surnames having had a single geographic and historic origin from those that started to be in use, with an identical spelling, in different locations (respectively, 76.06% and 21.05% of the total). As we are interested in geographic origins, polyphyletic surnames are excluded from further analyses. By comparing the present location of each monophyletic surname to its inferred geographic origin in late Middle Ages/Renaissance, we measure the extent of the migrations having occurred in Italy since that time. We find that the percentage of individuals presently living in the very area where their surname started to be in use centuries ago is extremely variable (ranging from 22.77% to 77.86% according to the province), thus meaning that self-assessed regional identities seldom correspond to the "autochthony" they imply. For example the upper part of the Thyrennian coast (Northern Latium, Tuscany) has a strong identity but few "autochthonous" inhabitants (∼28%) having been a passageway from the North to the South of Italy.
    Human Biology 06/2012; 84(3):235-70. · 1.52 Impact Factor
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    ABSTRACT: This study examines local heterogeneity in the aptitude of Sardinian mothers towards late reproduction, and explores its temporal persistence and association with both post-reproductive longevity and propensity to consanguineous marriage. Data on women's fertility from 1961 and birth records for 1980-1996 from Vital Statistics were analysed by means of the following indicators: the incidence of old mothers at last childbirth, female mortality (1980-2001) at 80 years of age and over and the proportion of consanguineous marriages (1930-1969). A variable kernel-smoothing method was used to create interpretable representations of the true spatial structure of the indicators, and to highlight areas of higher than expected intensity. In particular, an area of reproductive and post-reproductive longevity was identified where the traits combine with a higher tendency to relatedness. Intriguingly, this area corresponds approximately to the geographically and historically well defined central-eastern zone, which was the refuge of Sardinians during past invasions, and overlaps the Ogliastra region, which has been widely studied for its genetic homogeneity.
    Journal of Biosocial Science 10/2011; 44(3):257-72. · 0.98 Impact Factor
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    ABSTRACT: Evolution in human life-history traits is influenced by environmental factors and, when genetic components underlie the relations, by micro-evolutionary forces. Age at reproduction is largely influenced by the familial cultural context and socioeconomic level, besides the maternal well-being and genetic background. The Sardinian population is characterized by historico-geographical isolation and differentiates from Italian mainland and other European populations in bio-demographic and cultural characteristics, among which the tendency to delay maternity persisting through generations. In our study, we investigated whether, in Sardinia, areas of “reproductive longevity” exist, where a higher-than-average incidence of late maternities combines with a lower-than-average cost in terms of perinatal death. Data from the Italian Central Institute of Statistics regard all 1980–1996 Sardinian births. Using spatial analysis of late maternity (proportion of babies born to mothers aged ≥35 years) and associated perinatal mortality (proportion of babies stillborn and dead within 0–6 days born to mothers aged ≥35 years), we aimed at singling out areas where the indicators run high and low, respectively. The perinatal mortality cost associated with the advanced maternal age [odds ratios (95% CI)] was evaluated through multiple logistic regression models. We identified central inland excess areas qualified by higher incidence of late maternities (27% vs. 22% in nonexcess area) and lower cost in perinatal mortality [OR=1.38 (1.04–1.84) vs. OR=1.74 (1.55–1.96) in nonexcess area]. In these “reproductive longevity” areas, the inbreeding coefficient was 3.7-fold higher than in the nonexcess areas, suggesting possible population homozygosity in genetic factors affecting the trait. Further and deeper investigations on biological and environmental determinants could focus on these target areas.
    Evolution and Human Behavior 03/2009; 30(2):93-102. · 3.95 Impact Factor
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    ABSTRACT: Lombardy, in northern Italy, is the most populated and industrialized Italian region. We attempt to study its genetic structure with two independent sets of data: HLA allele frequencies and surnames. According to our results, it is plausible to deduce that ancient history, more than genetic isolation and drift, may have contributed to the present genetic structure of Lombardy. The hypothesis seems to be confirmed by the results of the cluster analysis of the 11 provinces of the region, which was performed using two different types of markers. Both genes and surnames show approximately the same structure. Not only Celts but also ancient Ligurians (and Etruscans) probably shaped the region into the present three clusters in which the 11 provinces appear to be genetically structured. In particular, an ancient historic, archaeological, and linguistic boundary, along the Adda River, seems to be preserved in present-day Lombardy's population structure.
    American Journal of Human Biology 05/2007; 19(3):311-8. · 2.34 Impact Factor
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    ABSTRACT: Genetic structure of Italian population is described as regards the level of inbreeding measured through the frequency of consanguineous marriages during a long period of time in different geographical areas. Analyses of spatial and temporal variation of the different types of marriages between close biological relatives allow us to point out the major factors responsible for the availability of cousins to marry within a specific area: population size, fertility, mortality and migration rates and, in general the demographic structure, changing over time and greatly affected by variation in the socio-economic structure. A deepened analysis, within each consanguinity degree, of the various pedigrees differing in the sex of ancestors, give information on the type of migration (patrilocal or matrilocal) occurred in various parts of Italy, as probable consequence of differential type of economy (for instance: pastoral or agricultural in Sardinia). Moreover, a cultural factor of varying intensity could be recognized in the greater observed frequency of marriages in which the nearest ancestors are females, interpreted as a tendency to maintain family ties by mothers of consanguineous mates.
    Human Evolution 01/2005; 20(2):201-215.
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    ABSTRACT: Telomeres constitute the ends of the linear eukaryotic chromosomes and are essential for the maintenance of chromosome stability and genome integrity. One of the consequences of an altered telomere structure is the formation of telomeric fusions (TFs), that is aberrant chromosomes in which two elements are fused at their telomeres. Proteins involved in the non-homologous end joining pathway for the repair of the DNA double strand breaks, as the DNA-dependent protein kinase catalytic subunit (DNA-PKcs), contribute to the formation of a functional telomere. To investigate the role of DNA-PKcs in telomere functionality, we studied the frequency of TFs in mouse embryonic fibroblasts obtained from animals in which the DNA-PKcs gene had been inactivated; the analysis was performed prior and after spontaneous immortalization in culture. Our results suggest that DNA-PKcs deficiency has a limited effect, if any, on TF formation in primary cells, while it further increases chromosomal instability in immortalized cells. In fact, the frequency of TFs was significantly higher in immortalized DNA-PKcs mutant cells compared to wild type cells. Together with TFs, we also found metacentric or submetacentric chromosomes in which no telomeric sequences were detected at the joining site. The frequency of this anomaly, that resembles the Robertsonian translocations observed in wild mice, was independent of the DNA-PKcs genotype. This suggests that the formation of these rearranged chromosomes does not rely on a functional DNA-PKcs.
    Cancer Letters 02/2004; 203(1):79-86. · 5.02 Impact Factor
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    ABSTRACT: A total of 202 Sardinian male subjects were examined for 13 biallelic stable markers, the complex 49a,f/TaqI system and three microsatellites of the Y chromosome in order to investigate, through surname analysis, on a possible territorial heterogeneity inside the island. The study of geographical distribution and linguistic derivation of Sardinian surnames allow us to discover their 'probable place of origin' and reconstruct ancient genetic isolates which borders are, today, no more recognizable. The molecular analysis revealed that about 90% of the Sardinian Y chromosomes fell into haplogroups E-M35, G-M201, I-M26, J-12f2 and R-M269. In contrast with the territorial homogeneity of these haplogroups, when the individuals were distributed according to their birthplace, a significant difference between the three historically and culturally distinct geographical areas into which Sardinia can be subdivided was observed when the individuals were distributed according to the ancestral location of surnames. In particular, the major contribution to this heterogeneity is due to the 'Sardinian-specific' haplogroup I-M26 (almost completely associated with the 49a,f-Ht12/12f2-10Kb/YCAIIa-21/YCAIIb-11 compound haplotype), which shows both a significantly higher incidence in the central-eastern (archaic) area and a significantly lower frequency in the northern area. The results of this study agree with the hypothesis that the ancestral homeland of this specific subset of haplogroup I is the mountainous central-eastern area of Sardinia, where the population underwent a long history of isolation since ancient times, and highlight the informative power of the surname analysis.
    European Journal of HumanGenetics 11/2003; 11(10):802-7. · 4.32 Impact Factor
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    ABSTRACT: DNA samples from 465 blood donors living in 7 towns of Sicily, the largest island of Italy, have been collected according to well defined criteria, and their genetic heterogeneity tested on the basis of 9 autosomal microsatellite and mitochondrial DNA polymorphisms for a total of 85 microsatellite allele and 10 mtDNA haplogroup frequencies. A preliminary account of the results shows that: a) the samples are genetically heterogeneous; b) the first principal coordinates of the samples are correlated more with their longitude than with their latitude, and this result is even more remarkable when one outlier sample (Butera) is not considered; c) distances among samples calculated from allele and haplogroup frequencies and from the isonymy matrix are weakly correlated (r = 0.43, P = 0.06) but such correlation disappears (r = 0.16) if the mtDNA haplogroups alone are taken into account; d) mtDNA haplogroups and microsatellite distances suggest settlements of people occurred at different times: divergence times inferred from microsatellite data seem to describe a genetic composition of the town of Sciacca mainly derived from settlements after the Roman conquest of Sicily (First Punic war, 246 BC), while all other divergence times take root from the second to the first millennium BC, and therefore seem to backdate to the pre-Hellenistic period. A more reliable association of these diachronic genetic strata to different historical populations (e.g. Sicani, Elymi, Siculi), if possible, must be postponed to the analysis of more samples and hopefully more informative uniparental DNA markers such as the recently available DHPLC-SNP polymorphisms of the Y chromosome.
    Annals of Human Genetics 02/2003; 67(Pt 1):42-53. · 2.22 Impact Factor
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    ABSTRACT: The role of natural selection in maintaining the thalassemia polymorphism is examined in a southern Italy district, in the past affected by malaria endemia. The Haldane's hypothesis that the thalassemia heterozygotes enjoy more protection than the normal homozygotes against the risk of malaria infection, seems to be confirmed by this indirect study at population level. The higher number of children born of the women who lived in the highly endemic villages, where the highest proportion of heterozygotes occurs, supports the hypothesis that the woman fertility contributes to the thalassemia maintenance. The joint effects of the acquired and inherited immunities and of the reproductive compensation are assumed as the mechanisms through which malaria and thalassemia influence fertility.
    Annals of Human Biology 01/1999; 26(2):163-73. · 1.48 Impact Factor
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    ABSTRACT: Without Abstract
    International Journal of Anthropology 01/1998; 13(3):279-287.
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    ABSTRACT: This study was designed to determine the prognostic value of erythrocyte adenosine deaminase (ADA) as a possible indicator of progression to AIDS, and compare this with other known cellular and serological markers. At the end of a 3-year study, a cohort of 114 human immunodeficiency virus-1 (HIV-1) seropositive intravenous drug users (IVDUs) from the five different Center for Disease Control (CDC) groups was examined in order to estimate the prognostic relevance with respect to the progression to acquired immunodeficiency syndrome (AIDS) of each of the following markers at baseline value: number and percentage of CD4+ T cells, number of CD8+ T cells, CD4+/CD8+ ratio, IgA and beta 2 microglobulin and ADA levels, and the presence of HIV antigens. Moreover, 57 IVDUs belonging to II and III CDC groups were analyzed in a follow-up study at 6-month intervals, in order to evaluate and compare the behavior of each marker over time. The prognostic significance of each marker was assessed by computing the survival distribution and the Cox analysis in a multivariate model providing the set of markers with greatest predictive value. The levels of ADA and the CD4+/CD8+ ratio showed a linear association with disease staging, whereas beta 2 microglobulin and CD4+/CD8+ ratio were the best predictors for AIDS progression. A highly significant increase in ADA and beta 2 microglobulin was observed during follow-up. The results obtained among HIV-positive IVDUs clearly indicate that the erythrocyte ADA may be considered a reliable marker of the development of HIV infection from the intermediate stages of the disease onwards.(ABSTRACT TRUNCATED AT 250 WORDS)
    Journal of Medical Virology 03/1995; 45(2):203-10. · 2.37 Impact Factor
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    ABSTRACT: Genetic analysis was performed on 72 Italian A-T families ascertained through 91 probands. The frequency of the A-T gene was estimated through Dahlberg's formula, which uses the frequencies of first cousin marriages among the patients' parents and in the general population were obtained from the collection of Catholic Church dispensations for the period 1910-1964. Accurate estimates of the disease frequency were made by subdividing data into 5-year periods and between provinces, in order to take into account temporal (decrease over time) and spatial (higher frequency in Southern Italy) heterogeneity. The estimate of the gene frequency for the whole sample was q = 0.012 +/- 0.0065, corresponding to a heterozygote frequency of 2.34% and to a disease frequency of 1 in 7090. When considering q before and after 1970, there was an apparent increase of heterozygote frequency from 1.69 to 3.43%, perhaps due to a better ascertainment of the disease in the latter period. A segregation ratio of 0.249 +/- 0.043 was obtained by analyzing the offspring of the 72 families under the model of incomplete multiple selection. This value is not significantly different from 0.25, as expected for an autosomal recessive disease.
    International Journal of Radiation Biology 01/1995; 66(6 Suppl):S31-3. · 1.84 Impact Factor
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    ABSTRACT: Women's fertility, gathered from the 1961 Italian population census, and estimates of heterozygote frequencies for thalassemia and G6PD deficiency (Siniscalco et al. 1961, 1966) in 52 Sardinian villages were examined to study at the population level the mechanisms that have maintained the stability of these polymorphisms over long periods. Sardinian villages were classified according to low or high frequency of heterozygotes, and the reproductive behavior of the women living in these areas was analyzed. A high mean number of children per woman and a low percentage of women without children with a high heterozygote frequency was demonstrated. The observed differential fertility and sterility were interpreted as being the result of different numeric ratios within each area between normal homozygous and heterozygous women, who were less and more resistant, respectively, to malarial infection, according to Haldane's theory. The effect of differing degrees of malaria on fertility rates has been demonstrated previously (Zei et al. 1990). To account for the effect of the genetic and epidemiological composition of an area on reproductive behavior, we classified data on women's fertility and sterility by heterozygote frequency level and malarial morbidity level. A combined and direct effect of inherited and acquired immunities on fertility and sterility rates was shown. The level of endemicity in an area may contribute to decreasing or increasing fitness, which is already influenced by the stable balanced polymorphisms.
    Human Biology 09/1994; 66(4):683-98. · 1.52 Impact Factor
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    ABSTRACT: Surname distributions were studied in order to reconstruct human migration patterns. Zones of sharp change in surname frequencies--presumably barriers to gene flow--were detected by the statistical technique of wombling (Barbujani et al. 1989), using data from consanguineous marriages (1910-64) collected from 280 Italian dioceses which we grouped into 80 provinces. The 28 observed surname boundaries were compared with physical (geographical) and cultural (linguistic) barriers, and with boundaries detected from distributions of 57 alleles in the same territorial subdivisions. Genetic and surname boundaries had similar locations, as expected given the analogy in the inheritance mechanism of genes and surnames. Physical barriers seemed to be the main cause of gene flow reduction. However, cultural factors alone (e.g. linguistic ones) also determined barriers that delimited areas of homogeneous gene (and surname) frequency probably due to increased endogamy. The observed similarity between spatial patterns of surnames, genes and languages supports the hypothesis of the co-evolution of genetic and linguistic variation.
    Annals of Human Genetics 06/1993; 57(Pt 2):123-40. · 2.22 Impact Factor
  • G Zei, A Lisa, P Astolfi
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    ABSTRACT: Using data from the 1961 Italian census, the study of fertility in Sardinia when malaria was endemic shows differential fertility between women living in areas with differing degrees of malaria. Cultural factors measured by women's level of education are negatively correlated with fertility, just as the 'urban' character of the area in which the women lived has a lowering effect on the fertility rate. The hypothesis of differential mortality according to social class, affecting lower-class women and in particular the more prolific among them, seems to be supported by data analysed through time. The subdivision of Sardinian towns and villages into those with a 'low' and a 'high' malaria rate was made on the basis of the classification given by Fermi in a period corresponding to the overall period of fertility of the women considered. Hypotheses about a greater acquired immunity and a higher frequency of heterozygotes for malarial genes, like thalassaemia and G-6-PD deficiency, in the area where malaria was more intense, are proposed to explain the higher fitness of women living in this area. The comparison between frequencies of heterozygotes for thalassaemia and G-6-PD deficiency, obtained by Siniscalco et al. for Sardinian villages in the two different malaria-infested areas, shows a significant difference when the areas are examined as a whole, but a great variability (principally for G-6-PD deficiency) between villages. Changes in ecological factors could have modified the geographical distribution of malaria today, compared with the distribution that may have determined the frequencies of heterozygotes many years ago.
    Annals of Human Biology 01/1990; 17(4):315-30. · 1.48 Impact Factor
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    ABSTRACT: From the introduction: There is scientific interest in studying the association between Insulin Dependent Diabetes Mellitus (IDDM) and malaria, since they have both shown association with the Human Leukocyte Antigens (HLA) system. Sardinia is a particularly suitable place in which to investigate the association between IDDM and malaria. According to the Roman historian Livy, malaria has probably been present in Sardinia since prehistoric times. It certainly spread gradually all over Sardinia after the Carthaginian conquest, became established after the Roman occupation and remained stable until the end of the nineteenth century. We analyse the association between IDDM risk and past malaria prevalence in Sardinia. The aim is to investigate the hypothesis that genetic selection caused by malaria in the past has affected the susceptibility to IDDM in Sardinians. We carry out two different analyses using two different datasets. In the first analysis, we investigate whether the geographical variation of IDDM relative risk could be partially explained by the geographical variation of the past prevalence of malaria. The dataset we use in this analysis includes IDDM incidence as observed in the period 1989-1994, and past malaria prevalence as recorded by Fermi in the period 1938-1940 in the 366 Sardinian communes (Fermi, 1938, 1940). Since a direct measurement of the selection operated by malaria is not available, we use past malaria prevalence as a proxy covariate. We apply Bayesian models with spatial smoothing priors for both relative risk and imprecisely observed covariates. In the second analysis we investigate the temporal variation of IDDM risk in two groups of areas, each of them characterized by different levels of past malaria morbidity. The dataset includes the commune-specific prevalence of IDDM among 18-year-old military conscripts born in Sardinia in the period 1936-1973 and an ecological indicator of malaricity that allows us to classify each commune into high/moderate/low past malaria morbidity groups. The indicator of malaricity has been obtained and validated using different sources of information, including those reported by Fermi. To obtain a smoothed risk profile over time, we use a Bayesian model and posit a second difference prior on the time-specific effects.

Publication Stats

109 Citations
31.25 Total Impact Points

Institutions

  • 1994–2007
    • National Research Council
      • Institute of Molecular Genetics IGM
      Roma, Latium, Italy
  • 2003–2004
    • National Institute of Molecular Genetics (INGM)
      Milano, Lombardy, Italy
  • 1995
    • Università degli studi di Parma
      Parma, Emilia-Romagna, Italy
    • Sapienza University of Rome
      • Department of Experimental Medicine
      Roma, Latium, Italy