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1.
Foods ; 13(13)2024 Jun 21.
Article in English | MEDLINE | ID: mdl-38998471

ABSTRACT

Literature reports suggest that the presence of proteins in pomegranate seeds is responsible for sensitization and IgE-mediated allergic reactions. The objective of this study was the analysis of a pomegranate seed extract and the isolation and characterization of proteins contained in high amounts. The extract characterization showed a protein profile with main bands at about 18 kDa and below 10 kDa upon SDS-PAGE, and molecules were recognized by specific IgEs upon immunoblotting. Then, two new 2S albumins, a monomeric and a heterodimeric one, were isolated by using classical biochemical methods. They were identified via direct protein sequencing and mass spectrometry, and their primary structure was analyzed and compared with homologous allergenic proteins via bioinformatics. In an Italian population of 703 suspected allergic patients, analyzed by using the FABER® test, the frequency of sensitization to the monomeric and heterodimeric 2S albumins was 1.7% and 0.28%, respectively. This study reports for the first time the isolation and characterization of two 2S albumins from pomegranate seeds. The clinical relevance of these molecules needs further investigation, for instance in populations having different exposures and allergy profiles.

2.
Dermatology ; 240(3): 414-424, 2024.
Article in English | MEDLINE | ID: mdl-38493762

ABSTRACT

INTRODUCTION: Generalized pustular psoriasis (GPP) is a rare and chronic, debilitating skin condition characterized, in its acute flare phase, by clinically severe and potentially life-threatening systemic manifestations. Data on GPP are still scanty, particularly in Europe and at a national level. The aim of this study was to provide expert indications on several disease-related and patient-related aspects of GPP, with specific focus to the Italian context. METHODS: We conducted an iterative eDelphi study following the recommended criteria for reporting methods and results. After a thorough bibliographic review aimed to identify unknown or controversial issues in GPP, the following areas were investigated through a few specific questions/statements for each area: (1) disease epidemiology; (2) disease characteristics, with specific interest toward GPP flares; (3) diagnosis and diagnostic delay; (4) GPP treatment; (5) GPP patient journey and use of healthcare resources in Italy; (6) unmet needs and quality of life. An Executive Board of 9 principal investigators revised and approved the topics to be examined and overviewed the whole project. A total of 35 experts from different Italian areas, including 34 board-certified Italian dermatologists and 1 representative of patients' associations, took part in the study. RESULTS: A high agreement in responses from Italian experts emerged during two eDelphi iterations on - among several other aspects - GPP prevalence and incidence in Italy, use of European Rare and Severe Psoriasis Expert Network diagnostic criteria, flare frequency and duration, best diagnostic and care pathway, and main unmet needs of Italian patients. On the other hand, a broad spectrum of treatments (of different drug classes) was reported both in the acute and chronic phases of GPP, and no consensus on the issue was thus achieved. CONCLUSIONS: Consensus findings from this Delphi study of GPP experts may be useful to fill gaps of knowledge and improve awareness of this rare disease, as well as to help clinical and public health management of GPP in Italy.


Subject(s)
Consensus , Delphi Technique , Psoriasis , Psoriasis/epidemiology , Psoriasis/therapy , Humans , Italy/epidemiology , Quality of Life , Health Services Needs and Demand , Delayed Diagnosis/statistics & numerical data
3.
Span. j. psychol ; 27: e2, Feb. 2024. tab, graf
Article in English | IBECS | ID: ibc-230532

ABSTRACT

The main goal of the present research is to develop and validate the Perceived Economic Inequality Scale (PEIS), an instrument measuring individuals’ perceptions of economic inequality at the national level. The study was conducted on a representative sample of the Italian population (N = 1,446, 51% women). The factorial structure of the scale was assessed through cross-validated exploratory-confirmatory factor analyses. To inspect the PEIS psychometric properties, item and correlation analyses were performed. The results showed that the PEIS is a valid and reliable unidimensional measure of perceived economic inequality at the national level. Further support of the PEIS construct validity was provided by the correlation of the scale score with the perceived wage gap and ideological beliefs like the economic system justification, social dominance orientation, meritocratic beliefs, and participants’ political orientation. Crucially, multigroup confirmatory factor analysis supported configural, metric, and scalar invariances of the scale across socio-demographic groups. The PEIS allows researchers to assess the subjective component of economic inequality by also serving as a useful tool for unpacking the psychological correlates of perceived inequality. (AU)


Subject(s)
Humans , Male , Female , Motivation , Social Perception , Psychometrics , Factor Analysis, Statistical , Perception , Surveys and Questionnaires , Reproducibility of Results
4.
Span J Psychol ; 27: e2, 2024 Feb 05.
Article in English | MEDLINE | ID: mdl-38311914

ABSTRACT

The main goal of the present research is to develop and validate the Perceived Economic Inequality Scale (PEIS), an instrument measuring individuals' perceptions of economic inequality at the national level. The study was conducted on a representative sample of the Italian population (N = 1,446, 51% women). The factorial structure of the scale was assessed through cross-validated exploratory-confirmatory factor analyses. To inspect the PEIS psychometric properties, item and correlation analyses were performed. The results showed that the PEIS is a valid and reliable unidimensional measure of perceived economic inequality at the national level. Further support of the PEIS construct validity was provided by the correlation of the scale score with the perceived wage gap and ideological beliefs like the economic system justification, social dominance orientation, meritocratic beliefs, and participants' political orientation. Crucially, multigroup confirmatory factor analysis supported configural, metric, and scalar invariances of the scale across socio-demographic groups. The PEIS allows researchers to assess the subjective component of economic inequality by also serving as a useful tool for unpacking the psychological correlates of perceived inequality.


Subject(s)
Motivation , Humans , Female , Male , Surveys and Questionnaires , Psychometrics , Factor Analysis, Statistical , Reproducibility of Results
5.
Front Psychiatry ; 14: 1208613, 2023.
Article in English | MEDLINE | ID: mdl-37621969

ABSTRACT

Introduction: While often positive, the lifecourse transition to motherhood is susceptible to the risk for developing mood disorders. Postpartum anxiety has often been overshadowed by other perinatal-specific mental health disorders, such as postpartum depression, and therefore has not been at the forefront or center of as much empirical study. This has meant there is a lack of effective and reliable tools with which to measure it, despite growing evidence suggesting its detrimental impact on mothers, their babies, wider family and social contacts, and on healthcare systems. This current study aimed to translate and validate the Postpartum Specific Anxiety Scale [PSAS] into the Italian language, and to validate the tool for its use in detecting anxiety specific to motherhood. Methods: The study (N = 457) comprised 4 stages: English-Italian translation and back-translation to obtain the Italian version [PSAS-IT]; a preliminary pilot study to adapt the PSAS to the characteristics of the Italian population; measurement invariance; and internal reliability of subscales. Results: The PSAS-IT demonstrates similar psychometric properties as the original English-language PSAS, with acceptable acceptability, construct and convergent validity, and internal consistency. Confirmatory factor analysis for multiple groups (Italy and United Kingdom) showed that the factor structure of the PSAS was valid for both groups [χ2 (2436) = 4679.481, p < 0.001, TLI = 0.969, CFI =0.972, RMSEA = 0.045, SRMR =0.064]. Discussion: The resulting findings offer a reliable measure of postpartum anxiety in Italian language up to six months after birth.

6.
Healthcare (Basel) ; 11(11)2023 May 25.
Article in English | MEDLINE | ID: mdl-37297697

ABSTRACT

Happiness is receiving more and more interest both as a determinant of health and a measure of outcome in biomedical and psychological sciences. The main objective of this study was to assess how the levels of happiness vary in a large sample of Italian adults and to identify the socio-demographic conditions which impair happiness domains the most. The participants of this survey consisted of 1695 Italian adults (85.9% women; 14.1% men) who completed the Measure of Happiness (MH) questionnaire online. In this study, the differences between groups in total and single domain (life perspective, psychophysical status, socio-relational sphere, relational private sphere, and financial status) happiness levels were examined through a propensity score matching analysis with respect to socio-demographic conditions, including gender, age, annual income, relationship status, having children, and education level. The results show that low income has a negative impact on happiness levels, whereas being in a relationship has a positive effect. Having children appears to have a negative impact on male happiness. Males appear to be happier than females, especially with regard to the psychophysics status. This evidence emphasizes the urgency for Italian policymakers to take actions on removing obstacles to people's happiness, especially with regard to financial distress, parenthood, and gender gaps.

7.
Healthcare (Basel) ; 11(11)2023 Jun 02.
Article in English | MEDLINE | ID: mdl-37297767

ABSTRACT

This research aims to provide a comprehensive overview of the key demographic, psychosocial, and lifestyle-related characteristics of forest therapy participants in Italy. A survey was conducted among 1070 adults who had engaged in standardized forest therapy experiences between June 2021 and October 2022. The findings indicate that most forest therapy participants in Italy share certain distinctive traits. They are primarily female, aged between 45 and 54 years, employed, and unmarried. Moreover, they possess a high level of education, predominantly reside in urban areas, demonstrate a strong environmental awareness, maintain a nature-oriented attitude, and typically exhibit moderate levels of trait anxiety. Additionally, they tend to be nonsmokers, possess a healthy BMI within the normal range, and consume an adequate quantity of fruits and vegetables on a daily basis. However, it should be noted that their male counterparts tend to be overweight and exhibit poorer dietary habits. Irrespective of gender, approximately 40% of forest therapy participants in Italy live with a chronic disease that requires daily medicinal treatment. Subsequent research should investigate whether these characteristics hold true in different countries. Furthermore, exploring the potential effectiveness of health-promoting interventions integrated with forest therapy sessions could prove beneficial in addressing these specific issues among forest therapy participants. By doing so, such interventions have the potential to contribute significantly to public health promotion and overall community well-being.

8.
Disabil Rehabil ; 45(10): 1713-1719, 2023 05.
Article in English | MEDLINE | ID: mdl-35532030

ABSTRACT

PURPOSE: A contribution to the Italian adaptation of the original English version of the World Health Organization Disability Assessment Schedule 2.0 for children and youth (WHODAS-Child), proxy-administered among children with autism spectrum disorder (ASD) without intellectual disability. MATERIALS AND METHODS: Observational and retrospective study with within-dependent variables by cross-sectional sampling on psychometric properties (internal consistency and construct/criterion validity) of the 36- and 7-item versions of the Italian WHODAS-Child. The original English version was translated into Italian, also considering the Italian version of the WHODAS 2.0 for adults. The Italian questionnaire was then translated back into English. All authors compared the original and back-translated English versions. The sample was collected among parents and clinicians of 100 children with ASD. To assess convergent/divergent validity, the Autism Diagnostic Observational Schedule (ADOS) was also administered. RESULTS: Cronbach's α for both versions' total scores was good. WHODAS-Child also showed a positive correlation with the three DSM-5 levels of impairment. A pattern of correlations with the ADOS was found for all domains of the WHODAS-Child except for the mobility and self-care domains. CONCLUSIONS: The WHODAS-Child Italian proxy-administered version has the potential to be a reliable and valid tool to measure functional impairment in children with ASD. Implications for rehabilitationWorld Health Organization Disability Assessment Schedule 2.0 for children and youth (WHODAS-Child) has shown to be sensitive in detecting children and youth functioning in the domains of activity and participation.WHODAS-Child Italian version seems to be a reliable and valid tool to measure the functional impairment in children with autism spectrum disorder.A critical issue for rehabilitation is that a single "minimal clinically important difference" score for the WHODAS-Child has not yet been established.


Subject(s)
Autism Spectrum Disorder , Adult , Humans , Adolescent , Psychometrics , Cross-Sectional Studies , Retrospective Studies , Disability Evaluation , Reproducibility of Results , World Health Organization , Surveys and Questionnaires , Italy
9.
Eat Weight Disord ; 27(8): 3561-3567, 2022 Dec.
Article in English | MEDLINE | ID: mdl-36307635

ABSTRACT

PURPOSE: The Power of Food Scale (PFS) is designed to measure the personal susceptibility to highly processed and palatable foods. The purpose of this study was to validate the Italian version of PFS (PFS-It) in the adult population. METHODS: Data were obtained from 536 Italian adults aged between 18 and 86 years. The PFS-It and the Binge Eating Scale (BES) were administered to all participants. RESULTS: The factorial structure of the PFS-It was investigated using a CFA that returned excellent fit indices. The Cronbach's alpha coefficients for the PFS-It total score and for its subscales (Food Available, Food Present, and Food Tasted), as well as for the BES total score, revealed good to moderate reliability. Finally, PFS-It was positively and significantly correlated with BES. CONCLUSION: To our knowledge, this is the first study to propose the norms and psychometric characteristics of the Power of Food Scale in an Italian population. The results show that PFS-it is a valid and reliable instrument for the measurement of Hedonic Hunger in an adult Italian population. LEVEL OF EVIDENCE: Level V, cross-sectional descriptive study.


Subject(s)
Feeding Behavior , Adult , Humans , Adolescent , Young Adult , Middle Aged , Aged , Aged, 80 and over , Cross-Sectional Studies , Reproducibility of Results , Surveys and Questionnaires , Psychometrics
10.
Article in English | MEDLINE | ID: mdl-35162262

ABSTRACT

In the early stages of the COVID-19 outbreak, high rates of clinically relevant anxiety, depression, and post-traumatic stress symptoms (PTSS) have been reported in the Italian population. The persistence of the pandemic and related restrictive measures highlight the need for a reassessment of psychopathological symptoms. The present longitudinal study consisted of two evaluations conducted during the two waves of infection. Participants were asked to complete the State-Trait Anxiety Inventory-Form Y1 (STAI Y1), the Beck Depression Inventory (BDI-II), and the PTSD Checklist for DSM-5 (PCL-5). There were no significant differences in depressive symptoms and PTSS scores reported by participants between T0 and T1, with single-case analysis revealing that in 71% and 69% of the participants, depressive symptoms and PTSS symptoms, respectively, remained stable during this period. On the contrary, mean scores comparison showed a significant decrease in anxiety levels, with 19% of participants in whom anxiety symptoms improved at single-case analysis. Taken together, these results suggest that depressive symptoms and PTSS not only occurred in a high percentage of participants but also tended to remain stable over time, thus warranting the importance of large-scale psychological screening and interventions to prevent the chronicization of these symptoms and their evolution to psychopathological disorders.


Subject(s)
COVID-19 , Stress Disorders, Post-Traumatic , Anxiety/epidemiology , Depression/epidemiology , Humans , Longitudinal Studies , SARS-CoV-2 , Stress Disorders, Post-Traumatic/epidemiology
11.
Leg Med (Tokyo) ; 55: 102027, 2022 Mar.
Article in English | MEDLINE | ID: mdl-35121352

ABSTRACT

The lingula is a small bony projection emerging from the medial ridge of the mandibular foramen, subjected to morphological variations. To date, scientific literature has described four different shapes (truncated, triangular, nodular and assimilated) and the relative distributions in different human populations. However, no data are available on Europeans so far. To this purpose, the present study aims to evaluate the distribution of the lingula shapes in the Italian population and to verify its relevance in ancestry estimation. Lingula was analysed in 235 dry mandibles selected among contemporary Italian cemeterial skeletons. Since only well-preserved sides were considered, 453 sides were evaluated according to a classification method, which includes the description of a fifth shape (the bridge shape) and the presence of mixed morphologies. In our sample, the most prevalent shape was the truncated shape (38.6%), followed by the nodular (26.3%), mixed morphologies (15.2%), triangular (10.8%), bridge (5.1%) and assimilated (4.0%) shapes. Within mixed morphologies, the most prevalent were the nodular/truncated (31.9%), nodular/triangular (30.4%), and nodular/assimilated (23.2%). Differently to previous studies, the lingula morphology could not actually offer a concrete and reliable help to ancestry estimation. However, its shape and extension would assume a stronger clinical influence for the execution and success of the alveolar nerve block used in dental and maxillofacial surgery procedures.


Subject(s)
Forensic Medicine , Mandible , Humans
12.
Article in English | MEDLINE | ID: mdl-35010756

ABSTRACT

Following the pandemic scenario, researchers from all over the world, including Italians, have undertaken fervent research activity using the epidemiological data available on the sites of government and national and international research institutes. The objectives of our study were: (1) to analyze the load and trend of the COVID-19 pandemic in Italy, from the beginning to October 2021; (2) to analyze vaccination coverage by age groups and types of vaccines administered and check how the vaccination campaign has influenced the course of the disease and deaths; (3) to evaluate the Italian situation in the European context, comparing the incidence and mortality of Italy with respect to European countries; (4) finally, to evaluate how much vaccination coverage may have had an effect on mortality in the various European countries. Databases were structured to archive Italian and European COVID-19 data provided by Our World in Data, and data came from the Ministry of Health, to evaluate percentage of vaccines administered. The monthly trend of the cumulative incidence per 100,000 inhabitants in the period January 2020-October 2021 was evaluated. It is important to underline 3 peaks of incidence and mortality rates that occurred during the three waves of COVID-19: March-April-May 2020, October-November-December 2020, and March-April-May 2021. There is a slight increase in incidence in August 2021 and in mortality in September 2021. The three mortality rate peaks, related to the three waves of COVID-19, are always higher in Italy than in Europe, particularly in April 2020, December 2020, and March 2021. From May 2021 to October 2021, the mortality trend reversed, and it turned out to be higher in Europe than in Italy. Regarding vaccination, Italy currently has an important coverage, not only in the most fragile population, where it exceeds 90%, but also in the 12-19 age group, with percentages above 65%. The Pfizer/BioNTech vaccine was used widely in all age groups (first and second dose), with highest administration in 12-19 age groups and 80+, while the lowest was recorded in the 70-79 age group. In conclusion, these data confirm the importance of vaccination in the management of the COVID-19 pandemic.


Subject(s)
COVID-19 , Humans , Italy/epidemiology , Pandemics , SARS-CoV-2 , Vaccination , Vaccination Coverage
13.
Curr Psychol ; : 1-9, 2022 Dec 28.
Article in English | MEDLINE | ID: mdl-36593908

ABSTRACT

We sought to test the COVID19-PB scale's psychometric properties and its dimensionality in a sample composed of 1107 Italian adults aged from 18 to 80 years (M = 39.59; SD = 16.36), 75% (n = 830) females, and 25% (n = 277) males. Exploratory, Confirmatory factor analysis and parallel analysis were used to validate the instrument that resulted from the Ebola Virus protective behaviours scale adaptation. Fear of covid-19 and a 1-item level of adherence to the Covid-19 protection scale were used to test the measure's convergent validity. A four-factor structure emerged from exploratory and confirmatory factor analysis: direct avoidance, avoidance of public spaces, avoidance of social interaction, and talking about the virus as protection. COVID-19 PB was a valuable measure to assess individuals' competencies in assuming correct behaviours during the pandemic.

14.
Article in English | MEDLINE | ID: mdl-34886443

ABSTRACT

Psychological and emotional forms of violence often represent a danger alarm and an important risk factor for other forms of intimate partner violence (IPV). Measuring psychological violence raises several issues of conceptualization and definition, which lead to the development of several assessment instruments; among them, the Scale of Psychological Abuse in Intimate Partner Violence (EAPA-P) showed good psychometric proprieties in a Spanish population and is used to identify which strategies are acted out to engage in psychological violence. The aim of the present study was to investigate the psychometric properties of the Italian version of EAPA-P among a group of Italian-speaking women (N = 343), thus evaluating its psychometric characteristics. Based on the English translation of the original Spanish version, an 11-item form of the EAPA-P was obtained, validity has been assessed through measures of emotion dysregulation, interpersonal guilt, conflict among partners and depression, anxiety, and stress symptomatology. Moreover, differences among groups were conducted to identify the capacity of the Italian version of EAPA-P to discriminate among women reporting experiencing psychological violence (N = 179), and who don't (N = 150). Results showed an excellent internal validity, good correlations, and a good discriminatory ability of the scale. Strengths, limitations, and practical implications of the study have been discussed according to recent literature.


Subject(s)
Emotional Abuse , Intimate Partner Violence , Anxiety , Female , Humans , Psychometrics , Risk Factors , Sexual Partners
15.
Infect Genet Evol ; 95: 105081, 2021 11.
Article in English | MEDLINE | ID: mdl-34520873

ABSTRACT

Coronavirus disease 2019 (COVID-19) has harshly impacted Italy since its arrival in February 2020. In particular, provinces in Italy's Central and Northern macroregions have dealt with disproportionately greater case prevalence and mortality rates than those in the South. In this paper, we compare the morbidity and mortality dynamics of 16th and 17th century Plague outbreaks with those of the ongoing COVID-19 pandemic across Italian regions. We also include data on infectious respiratory diseases which are presently endemic to Italy in order to analyze the regional differences between epidemic and endemic disease. A Growth Curve Analysis allowed for the estimation of time-related intercepts and slopes across the 16th and 17th centuries. Those statistical parameters were later incorporated as criterion variables in multiple General Linear Models. These statistical examinations determined that the Northern macroregion had a higher intercept than the Southern macroregion. This indicated that provinces located in Northern Italy had historically experienced higher plague mortalities than Southern polities. The analyses also revealed that this geographical differential in morbidity and mortality persists to this day, as the Northern macroregion has experienced a substantially higher COVID-19 mortality than the Southern macroregion. These results are consistent with previously published analyses. The only other stable and significant predictor of epidemic disease mortality was foreign urban potential, a measure of the degree of interconnectedness between 16th and 17th century Italian cities. Foreign urban potential was negatively associated with plague slope and positively associated with plague intercept, COVID-19 mortality, GDP per capita, and immigration per capita. Its substantial contribution in predicting both past and present outcomes provides a temporal continuity not seen in any other measure tested here. Overall, this study provides compelling evidence that temporally stable geographical factors, impacting both historical and current foreign pathogen spread above and beyond other hypothesized predictors, underlie the disproportionate impact COVID-19 has had throughout Central and Northern Italian provinces.


Subject(s)
COVID-19/epidemiology , Endemic Diseases/history , Models, Statistical , Pandemics , Plague/epidemiology , COVID-19/history , COVID-19/mortality , Cities , Emigrants and Immigrants/statistics & numerical data , Geography , Gross Domestic Product , History, 16th Century , History, 17th Century , History, 21st Century , Humans , Italy/epidemiology , Plague/history , Plague/mortality , Prevalence , Survival Analysis
16.
Results Phys ; 28: 104604, 2021 Sep.
Article in English | MEDLINE | ID: mdl-34336564

ABSTRACT

The second wave of a novel coronavirus in Italy has caused 247,369 new cases and 1782 deaths only in October 2020. This significantly alarming infectious disease controlling board to impose again mitigation measures for controlling the epidemic growth. In this paper, we estimate the latest COVID-19 reproduction number (R_0) and project the epidemic size for the future 45 days. The R_0 value has calculated as 2.83 (95% CI: 1.5-4.2) and the cumulative incidences 100,015 (95% CI; 73,201-100,352), and daily incidences might be reached up to 15,012 (95% CI: 8234-16,197) respectively.

17.
Aging Clin Exp Res ; 33(10): 2759-2766, 2021 Oct.
Article in English | MEDLINE | ID: mdl-33733325

ABSTRACT

BACKGROUND: Early detection of anxiety symptoms in older people is capital as it may be linked to increased physical/functional disabilities, onset and progression of neurodegenerative disorders, and poor cognitive functioning. Nonetheless, there is a paucity of psychometrically validated anxiety measures in the elderly. AIMS: This study aimed at assessing the psychometric properties of the State-Trait Anxiety Inventory-Form Y (STAI-Y) and providing the first normative data for the Italian elderly population. METHODS: The sample included 361 individuals aged 65-94. All subjects underwent the Mini-Mental State Examination (MMSE), the Geriatric Depression Scale (GDS), and the state (S-Anxiety) and trait anxiety (T-anxiety) scales of the STAI-Y. RESULTS: The S-Anxiety and T-Anxiety scales showed reliable internal consistency and, overall, good item characteristics. Divergent validity was "apparently" threatened, with S-Anxiety scale correlating with MMSE and GDS, and T-Anxiety scale only with GDS. The principal component analysis revealed a three-factor solution for both scales, i.e., presence and absence of state (or trait) anxiety, and performance anxiety. Since no effect of sociodemographic variables was found, unadjusted cutoffs were provided. CONCLUSIONS: Although some questions on the psychometric properties of the STAI-Y remain unanswered, this normative study can help clinicians and researchers to monitor anxiety levels in the Italian elderly population.


Subject(s)
Anxiety Disorders , Anxiety , Aged , Anxiety/diagnosis , Humans , Italy , Psychiatric Status Rating Scales , Psychometrics
18.
Hum Mutat ; 42(3): 272-289, 2021 03.
Article in English | MEDLINE | ID: mdl-33326653

ABSTRACT

To reconstruct the phenotypical and clinical implications of the Italian genetic structure, we thoroughly analyzed a whole-exome sequencing data set comprised of 1686 healthy Italian individuals. We found six previously unreported variants with remarkable frequency differences between Northern and Southern Italy in the HERC2, OR52R1, ADH1B, and THBS4 genes. We reported 36 clinically relevant variants (submitted as pathogenic, risk factors, or drug response in ClinVar) with significant frequency differences between Italy and Europe. We then explored putatively pathogenic variants in the Italian exome. On average, our Italian individuals carried 16.6 protein-truncating variants (PTVs), with 2.5% of the population having a PTV in one of the 59 American College of Medical Genetics (ACMG) actionable genes. Lastly, we looked for PTVs that are likely to cause Mendelian diseases. We found four heterozygous PTVs in haploinsufficient genes (KAT6A, PTCH1, and STXBP1) and three homozygous PTVs in genes causing recessive diseases (DPYD, FLG, and PYGM). Comparing frequencies from our data set to other public databases, like gnomAD, we showed the importance of population-specific databases for a more accurate assessment of variant pathogenicity. For this reason, we made aggregated frequencies from our data set publicly available as a tool for both clinicians and researchers (http://nigdb.cineca.it; NIG-ExIT).


Subject(s)
Exome , Genetic Variation , Europe , Exome/genetics , Humans , Italy , Exome Sequencing
20.
BMC Biol ; 18(1): 51, 2020 05 22.
Article in English | MEDLINE | ID: mdl-32438927

ABSTRACT

BACKGROUND: The cline of human genetic diversity observable across Europe is recapitulated at a micro-geographic scale by variation within the Italian population. Besides resulting from extensive gene flow, this might be ascribable also to local adaptations to diverse ecological contexts evolved by people who anciently spread along the Italian Peninsula. Dissecting the evolutionary history of the ancestors of present-day Italians may thus improve the understanding of demographic and biological processes that contributed to shape the gene pool of European populations. However, previous SNP array-based studies failed to investigate the full spectrum of Italian variation, generally neglecting low-frequency genetic variants and examining a limited set of small effect size alleles, which may represent important determinants of population structure and complex adaptive traits. To overcome these issues, we analyzed 38 high-coverage whole-genome sequences representative of population clusters at the opposite ends of the cline of Italian variation, along with a large panel of modern and ancient Euro-Mediterranean genomes. RESULTS: We provided evidence for the early divergence of Italian groups dating back to the Late Glacial and for Neolithic and distinct Bronze Age migrations having further differentiated their gene pools. We inferred adaptive evolution at insulin-related loci in people from Italian regions with a temperate climate, while possible adaptations to pathogens and ultraviolet radiation were observed in Mediterranean Italians. Some of these adaptive events may also have secondarily modulated population disease or longevity predisposition. CONCLUSIONS: We disentangled the contribution of multiple migratory and adaptive events in shaping the heterogeneous Italian genomic background, which exemplify population dynamics and gene-environment interactions that played significant roles also in the formation of the Continental and Southern European genomic landscapes.


Subject(s)
Evolution, Molecular , Genetic Variation , Genome, Human , Archaeology , DNA, Ancient/analysis , Humans , Italy , White People
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