Alberto Piazza

• PhD, MD
• Professor at University of Turin

Many anthropological, linguistic, genetic and genomic analyses have been carried out to evaluate the potential impact that evolutionary forces had in shaping the present-day Sardinian gene pool, the main outlier in the genetic landscape of Europe. However, due to the homogenizing effect of internal movements, which have intensified over the past fi...

Targeted GBS is a recent approach for obtaining an effective characterization for hundreds to thousands of markers. The high throughput of next‐generation sequencing technologies, moreover, allows sample multiplexing. The aims of this study were to (i) define a panel of single nucleotide polymorphisms (SNPs) in the cat, (ii) use GBS for profiling 1...

European populations display low genetic differentiation as the result of long-term blending of their ancient founding ancestries. However, it is unclear how the combination of ancient ancestries related to early foragers, Neolithic farmers, and Bronze Age nomadic pastoralists can explain the distribution of genetic variation across Europe. Populat...

European populations display low genetic diversity as the result of long term blending of the small number of ancient founding ancestries. However it is still unclear how the combination of ancient ancestries related to early European foragers, Neolithic farmers and Bronze Age nomadic pastoralists can fully explain genetic variation across Europe....

The rarity of human remains makes it difficult to apprehend the first settlements in Corsica. It is admitted that initial colonization could have occurred during the Mesolithic period when glaciations would have shortened the open water travel distance from the continent. Mesolithic sites in Corsica show relatively short and irregular occupation, a...

Y-STR data from this study, Boattini et al. 2013 and King et al. 2011. (XLSX)

Primers and their concentrations used for multiplex SNaPshot assays to simultaneously analyze: main Y-chromosome haplogroups, haplogroups R (3 multiplex analyses), haplogroup J (2 multiplex analyses) and haplogroup G. F and R stand for Forward and Reverse respectively. (XLSX)

Primers and their concentrations used for multiplex fragment analysis assay to simultaneously analyze STR DYS388, DYS445 and DYS461. F and R stand for Forward and Reverse respectively. (DOC)

Corsica, Provence and Tuscany Y-chromosome tree. Hierarchic phylogenetic relationships and frequencies (percentages), haplogroup diversity observed in the 321 Corsican, 259 Provencal and 261 Tuscan samples. (XLSX)

First and second axes of the PCA based on 23 Y-chromosome haplogroup frequencies in 31 populations from the northern rim of the Mediterranean basin. (TIF)

Y-STR based phylogenetic networks. Populations from Corsica, Provence and Tuscany under study and Italian populations from Boattini A, et al. 2013 [30]. (TIF)

Multidimensional Scaling (MDS) of Rst genetic distances between populations of the Tyrrhenian Sea (stress: 0.659). Black: present study, open squares: Oltremontano speakers, filled squares: Cismontano speakers. Others colors refer to the eight Italian areas in Boattini A, et al. 2013 [30] (Light Green: Northwestern Italy, Grey: Northeastern Italy,...

Chronological List of Major Archaeological Strata adapted from D'Anna A et al. 2007 [61]. (DOCX)

Recent scientific literature has highlighted the relevance of population genetic studies both for disease association mapping in admixed populations and for understanding the history of human migrations. Deeper insight into the history of the Italian population is critical for understanding the peopling of Europe. Because of its crucial position at...

In the period between 400 to 800 AD, also known as the period of the Barbarian invasions, intense migration is documented in the historical record of Europe. However, little is known about the demographic impact of these historical movements, potentially ranging from negligible to substantial. As a pilot study in a broader project on Medieval Europ...

The peculiar position of Sardinia in the Mediterranean sea has rendered its population an interesting biogeographical isolate. The aim of this study was to investigate the genetic population structure, as well as to estimate Runs of Homozygosity and regions under positive selection, using about 1.2 million single nucleotide polymorphisms genotyped...

Knowledge of markers in the human genome which show spatial patterns and display extreme correlation with different environmental determinants play an important role in understanding the factors which affect the biological evolution of our species. We used the genotype data of more than half a million single nucleotide polymorphisms (SNPs) from the...

Additional file 1: SNPs and regions from the proximity- based algorithm. Additional file 1 in the online supporting information contains all regions selected by the proximitybased method, duly annotated. Additional file 2: The complete list of genes reported in previously published GWAs and showing continuous correlation signals with our proximity...

Leukocyte telomere length (LTL) provides a potential marker of biological age, closely related to the endothelial dysfunction and consequently to the atherosclerotic process. To investigate the relationship between the LTL and the risk of premature acute myocardial infarction and to evaluate the predictive value of LTL on the onset of major cardiov...

In spite of the common belief of Europe as reasonably homogeneous at genetic level, advances in high-throughput genotyping technology have resolved several gradients which define different geographical areas with good precision. When Northern and Southern European groups were considered separately, there were clear genetic distinctions. Intra-count...

Variable contribution of each SNP to the first four PC against the genomic location. Manhattan plot done in the Italian data set, the top SNPs in panel d localize to chromosome 8 inside the 8p23 region. (TIF)

Top 100 PC and associated Eigenvalues in different datasets.Top 100 PC and associated Eigenvalues for European dataset (a), Italian dataset (b) and Italian dataset without Sardinia (c). (TIF)

Number of SNPs inside each panel before and after a filter for SNP call rate. SNPs intersection between the six studies was 163,355. After a filtering for minor allele frequency (MAF>0.01) the number of polymorphisms was reduced to 163,350. A subset of 163,095 SNPs passed Hardy-Weinberg equilibrium. A subsequent dataset of 125,799 SNPs after Linkag...

Correlation between PC's score and genetic/geographical values.Correlation between PC1 score, PC2 score, PC3 score PC4 score and genetic distance (IBS) and latitude, longitude and geographical distance (great circle distance) within the Italian dataset. All the correlation values were significative (p-value less than 2.2 e−16). (DOC)

Hidden population structure within the Italian dataset. Scatter plot of the first two eigenvectors based on 125,799 autosomal SNPs and 1,012 individuals. Colors represent the four different macro-areas; green- Southern Italy (Apulia, Calabria/Sicily, Campania, Basilicata), red- Central Italy (Tuscany, Lazio, Emilia Romagna and Abruzzo/Marche), blac...

Individuals predicted to be homozygous inverted or heterozygous or homozygous non-inverted for the 8p23.1. Panel A Scatter plot of the PC1 and PC2 done using only SNPs located inside the 8p23 region (163 markers). Panel B Individuals predicted to be homozygous inverted or heterozygous or homozygous non-inverted using K mean clustering, K = 3. The f...

Italian population projected scatter plot of the PC3 and PC4. Panel A Analysis based on 125,799 autosomal SNPs and 1,012 individuals. Color code shows different Italian subpopulations; green: Southern Italy, red: Central Italy, black: Northern Italy, blue: Sardinia.Panel B K-mean (K = 3) of PC3/PC4. Different colors shows the three diffent clusters...

Model-based ancestry analysis based on a subset from HGDP-CEPH and HapMap CEU data on 1260 individuals. Ancestry for each individual was inferred with ADMIXTURE [50] from K = 2 to K = 9. (TIF)

Cross-validation error plot from the ADMIXTURE program. Populations coming from the Italian dataset plus HGDP-CEPH (Palestinian; Druze; Mozambite; Bedouins; French) and some Hapmap populations. K = 1–10. (TIF)

The main purpose of this contribution is to document the role of natural selection, a major factor in Darwinian evolution which is difficult to dissect specially in the case of human evolution. Recent major steps in human genetics can be summarized as follows: (a) the complete sequence of the human genome; (b) the Single Nucleotide Polymorphisms (S...

The 12q24.12 locus has been reported to be involved in the control of many traits and also in severe diseases such as cardiovascular disease, hypertension and some immune-related disease. To our knowledge, no study has been published so far investigating the role of this locus in the pathogenesis of preeclampsia (PE). We genotyped four single nucle...

The purpose of this study was to test whether the 9p21.3 variant rs1333040 influences the occurrence of new cardiovascular events and coronary atherosclerosis progression after early-onset myocardial infarction. 9p21.3 genetic variants are associated with ischemic heart disease, but it is not known whether they influence prognosis after an acute co...

We conducted a genome-wide association study testing single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) for association with early-onset myocardial infarction in 2,967 cases and 3,075 controls. We carried out replication in an independent sample with an effective sample size of up to 19,492. SNPs at nine loci reached genome-wide...

We conducted a genome-wide association study testing single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) for association with early-onset myocardial infarction in 2,967 cases and 3,075 controls. We carried out replication in an independent sample with an effective sample size of up to 19,492. SNPs at nine loci reached genome-wide...

The presence or absence of genetic heterogeneity in Sicily has long been debated. Through the analysis of the variation of Y-chromosome lineages, using the combination of haplogroups and short tandem repeats from several areas of Sicily, we show that traces of genetic flows occurred in the island, due to ancient Greek colonization and to northern A...

A new family of cross-reacting HL—A specificities is described. Sera obtained from a multiparous woman and four polytransfused individuals identify three antigenic determinants belonging to the first HL—A segregant series: TO 30 (gene frequency .0446), TO 31 (gene frequency .0150), and TO 40. Serological, familial, and population analysis shows tha...

The distribution of Y-chromosomal single nucleotide polymorphism (SNP) haplogroups and short tandem repeat (STR) haplotypes was determined in a sample of 102 unrelated men of Arab origin from northwestern Algeria (Oran area). A total of nine different haplogroups were identified by a panel of 22 binary markers. The most common haplogroups observed...

Transforming growth factor beta 1 (TGF-beta1) gene play an important role in the acute myocardial infarction (AMI), however no investigation has been conducted so far in young AMI patients. In this study, we evaluated the influence of TGF-beta1 polymorphisms/haplotypes on the onset and progression of AMI in young Italian population. 201 cases and 2...

The objective is to investigate the relationships between fruit and vegetable intake, DNA repair gene polymorphisms and the risk of bladder cancer. We have analyzed a hospital-based case-control study of 266 individuals with incident, histologically confirmed bladder cancer diagnosed between 1994 and 2003. Controls (n = 193) were patients treated f...

The Etruscan culture developed in Central Italy (Etruria) in the first millennium BC and for centuries dominated part of the Italian Peninsula, including Rome. The history of the Etruscans is at the roots of Mediterranean culture and civilization, but their origin is still debated: local or Eastern provenance? To shed light on this mystery, bovine...

An international collaborative study of 45 transplant centers was undertaken at the 14th International HLA (human leukocyte antigen) and Immunogenetics Workshop to see if HLA antibodies detected posttransplant are predictive of chronic graft failure. With the newly developed assay, MICA (major histocompatibility complex class I-related chain A) ant...

The origin of the Etruscan people has been a source of major controversy for the past 2,500 years, and several hypotheses have been proposed to explain their language and sophisticated culture, including an Aegean/Anatolian origin. To address this issue, we analyzed the mitochondrial DNA (mtDNA) of 322 subjects from three well-defined areas of Tusc...

The renin-angiotensin-aldosterone system (RAAS) is involved in the cardiovascular homeostasis as shown by previous studies reporting a positive association between specific RAAS genotypes and an increased risk of myocardial infarction. Anyhow the prognostic role in a long-term follow-up has not been yet investigated. Aim of the study was to evaluat...

The three-year follow-up of 4,144 patients of the 14th International Workshop Prospective Chronic Rejection study has reinforced the evidence that post-transplant HLA antibodies are predictive of long-term graft loss. Three years after a single testing for HLA antibodies, 10% of kidney recipients who were antibody-positive had lost their grafts, in...

Over the last decade, the analysis of Y-chromosomal STRs has emerged as a powerful tool for paternity testing and forensic casework. More recently, single multiplex PCR assays including new Y-STRs, which complement those comprised in the Y Haplotype Reference Database (YHRD) minimal haplotype (minHt) and the Scientific Working Group on DNA Analysis...

Eight Y-chromosomal short tandem repeats (STRs)-DYS19, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393 and DYS385-were typed in a population sample (n=255) of unrelated Sicilian males from nine different towns on the main island and from the island of Pantelleria.

Eight Y-chromosome STR loci (DYS19, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393 and DYS385) were analysed in a sample of 236 unrelated males from four towns of Piedmont (Trino, Biella, Cavaglià, Postua). One hundred and fifty six different haplotypes were observed and 55 of them were not previously observed in the Y-STR Haplotype Reference...

Bladder cancer is associated with tobacco smoking and occupational exposure. The repair of DNA damage has a key role in protecting the genome from the insults of cancer-causing agents. We analyzed 13 polymorphisms in seven DNA repair genes belonging to different repair pathways [X-ray repair cross-complementing group 1 (XRCC1): 26304C>T, 26651A>G,...

Isolated populations have been the object of several genetic and anthropological studies, since endogamy and inbreeding often lead to the acquisition of a particular gene pool. In this context, we studied the small, ancient population of Postua in the north-western Italian Alps. We used biodemographic and molecular techniques to analyse the popula...

This study evaluated vascular brachytherapy (VBT) as a potent antiproliferative treatment to prevent in-stent restenosis (ISR) after coronary angioplasty of de novo lesions in patients carrying the D allele of the I/D polymorphism of the ACE gene and high ACE plasma levels (>34 U/l). A prospective randomized trial was designed to detect a 30% impro...

It has been suggested that genes other than CFTR could modulate the severity of lung disease in cystic fibrosis (CF). Neutrophil Fcgamma receptor II (FcgammaRII) is involved in host defense against microorganisms and in inflammatory response. We evaluated the association between genetic variability of this gene and both airway infection with Pseudo...

Transforming growth factor beta1 (TGF-beta1) plays an important role in the modulation of cellular growth and differentiation in a wide variety of cell types and in the production/degradation of the extracellular matrix (ECM). We investigated whether G-800A, C-509T and Leu10-->Pro polymorphisms in the TGF-beta1 gene could be involved in the develop...

Eight Y-chromosomal short tandem repeats (STRs)--DYS19, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393, and DYS385--were typed in a population sample (n = 113) of unrelated males from seven different regions of Greece (Macedonia, Thessaly, Epirus, Central Greece, Peloponnese, Crete Island, and Chios Island).

The ID (insertion/deletion) polymorphism of the ACE (angiotensin-converting enzyme) gene controls plasma ACE levels. Both have been correlated with ISR (in-stent restenosis) in preliminary analyses, but not confirmed in larger studies. In the present study, baseline and 6-month quantitative coronary analysis were performed in 897 patients who had s...

One of the many commercial technologies for genotyping single nucleotide polymorphisms (SNPs) is template direct dye-terminator incorporation with fluorescence-polarization (TDI-FP assay). It is a single-base extension assay followed by reading the fluorescence polarization values in an appropriate instrument. We have evaluated the suitability of t...

Because of the receptor-mediated antiproliferative effects of estradiol on vascular smooth muscle cells, our study aimed at identifying a role of PvuII and XbaI polymorphisms of the alpha-estrogen receptor (alphaER) gene in the occurrence of restenosis after coronary stent implantation (in-stent restenosis [ISR]). In 858 patients (148 women), 955 l...

Allelic frequencies of 182 tri- and tetra-autosomal microsatellites were used to examine phylogenetic relationships among 19 extant human populations. In particular, because the languages of the Basques and Hunza Burusho have been suggested to have an ancient relationship, this study sought to explore the genetic relationship between these two majo...

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 preli...

The Plasma level of angiotensin-converting enzyme (ACE) has been identified as a major risk factor for restenosis after coronary stent implantation in selected patients; ACE inhibition may therefore contribute to prevent its occurrence. The effect of oral ACE inhibition at conventional doses was analyzed retrospectively in a series of 897 patients...

A resource of 1064 cultured lymphoblastoid cell lines (LCLs) (1) from individuals in different world populations and corresponding milligram quantities of DNA is deposited at the Foundation Jean Dausset (CEPH) (2) in Paris. LCLs were collected from various laboratories by the Human Genome Diversity Project (HGDP) (3) and CEPH to provide unlimited s...

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DNA repair genes have an important role in protecting individuals from cancer-causing agents. Polymorphisms in several DNA repair genes have been identified and individuals with non-dramatic reductions in the capacity to repair DNA damage are observed in the population, but the impact of specific genetic variants on repair phenotype and cancer risk...

Individuals differ widely in their ability to repair DNA damage, and DNA-repair deficiency may be involved in modulating cancer risk. In a case-control study of 124 bladder-cancer patients and 85 hospital controls (urological and non-urological), 3 DNA polymorphisms localized in 3 genes of different repair pathways (XRCC1-Arg399Gln, exon 10; XRCC3-...

Am J Hypertens (2001) 14, 186A–187A; doi:10.1016/S0895-7061(01)01644-2 P-464: The insertion/deletion polymorphism of the angiotensin-converting enzyme gene is not correlated to the stable or unstable presentation of patients with coronary artery disease Antonello Vado1,2, Mauro Feola1,2, Valeria Ferrero1,2, Flavio Ribichini1,2, Elena Colajanni1,2,...

Molecular analysis of 289 chromosomes has been performed in a cohort of phenylketonuria (PKU) patients whose ancestors lived in five Italian regions, Calabria, Campania, Piemonte, Puglia/Basilicata and Sicilia. Phenylalaninehydroxylase (PAH) gene mutations and minihaplotypes (combinations of PAH gene STR and VNTR systems) have been determined for 7...

Binary polymorphisms associated with the non-recombining region of the human Y chromosome (NRY) preserve the paternal genetic legacy of our species that has persisted to the present, permitting inference of human evolution, population affinity and demographic history. We used denaturing high-performance liquid chromatography (DHPLC; ref. 2) to iden...

A number of reports have investigated the association between various gene polymorphisms and the phenotypic expression of myocardial infarction. No investigations have evaluated the prognostic role of genetic factors in young people with premature coronary disease. The aim of this study was to investigate the influence of genetic factors compared w...

The Fifth International Mutation Detection Workshop brought together inventors and major users of mutation detection methodology in a freshly refurbished 17(th) century monastery in northern Italy. There were over 120 registrants from 22 nations, all of which gave either a poster or oral presentation, making it difficult to distill the meeting into...

The Fifth International Mutation Detection Workshop brought together inventors and major users of mutation detection methodology in a freshly refurbished 17th century monastery in northern Italy. There were over 120 registrants from 22 nations, all of which gave either a poster or oral presentation, making it difficult to distill the meeting into a...

Scholars of human evolution are well aware that physical traits are mostly adaptive, reflecting the geography or environment — rather than the history — of those who carry them. Therefore, they will appreciate a paper by Chu and thirteen other Chinese co-authors1 in Proceedings of the National Academy of Sciences, who have done a genetic analysis o...

Tissue proliferation is almost invariably observed in recurrent lesions within stents, and ACE, a factor of smooth muscle cell proliferation, may play an important role. Plasma ACE level is largely controlled by the insertion/deletion (I/D) polymorphism of the enzyme gene. The association among restenosis within coronary stents, plasma ACE level, a...

Earlier analysis of the Italian population showed patterns of genetic differentiation that were interpreted as being the result of population settlements going back to pre-Roman times. DNA disease mutations may be a powerful tool in further testing this hypothesis since the analysis of diseased individuals can detect variants too rare to be resolve...

Earlier analysis of the Italian population showed patterns of genetic differentiation that mere interpreted as being the result of population settlements going back to pre-Roman times. DNA disease mutations may be a powerful tool in further testing this hypothesis since the analysis of diseased individuals can detect variants too rare to be resolve...

IVS10nt546 (IVS10nt-11g→a) is the most common molecular defect of the phenylalanine hydroxylase gene causing phenylketonuria in Mediterranean populations. Previous studies have proposed various and alternative hypotheses concerning the geographical origin and pattern of diffusion of this mutation in this area. In this study, this issue was re-exami...

A well defined Italian sample from Trino Vercellese (Northern Italy) is analysed for 75 nuclear DNA RFLPs. It represents the only European sample [Matullo et al 1994] which is unmixed in a comparative study of eight populations from four continents [Bowcock et al 1991a; Lin et al 1994]. Genetic substructure of this sample has been investigated by a...