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STUDY OF FOOD LIKINGS: GENETIC AND NON-GENETIC INFLUENCES AND RELATIONSHIP WITH HEALTH
No full textLe preferenze alimentari sono influenzate da un gran numero di variabili come: fattori fisiologici, nutrizionali, ambientali, socio-culturali e genetici. Studi precedenti mostrano che le preferenze alimentari ottenute tramite questionari, sono più semplici da rilevare rispetto ai consumi; inoltre possono rispecchiare i consumi abituali e sono associate a fattori di rischio per malattie legate alla dieta. Il conseguimento di una migliore conoscenza dei fattori che influenzano le preferenze alimentari e delle implicazioni delle stesse sulle patologie legate all'alimentazione, come per esempio obesità e ipertensione, è di notevole importanza per la salute pubblica.
Questo lavoro ha lo scopo di studiare i fattori genetici e non genetici che influenzano le preferenze alimentari e di indagare le relazioni tra preferenze alimentari e stato di salute.
Lo studio è stato condotto grazie alla disponibilità di un vasto database con informazioni su circa 3000 persone provenienti da tre regioni d'Italia. Le preferenze alimentari sono state ottenute tramite la somministrazione di un questionario e valutate in una scala edonica a nove punti per circa un centinaio di cibi e bevande diverse. Informazioni personali e sullo stile di vita, parametri clinici, fenotipi sul comportamento alimentare, dati sensoriali e genetici sono stati valutati in relazione alle preferenze.
Sono stati raggiunti i seguenti risultati:
− le preferenze alimentari sono associate a diversi fattori non genetici, quali sesso, età, livello di istruzione, attività fisica e tratti del comportamento alimentare. Ad esempio, gli uomini, rispetto alle donne, hanno riportato una preferenza significativamente più elevata per bevande alcoliche, pesce e carne e una preferenza meno elevata per verdure, frutta e cibi dolci; sempre a titolo di esempio, una più alta preferenza per tutti gli alimenti è stata associata a una maggiore volontà di provare cibi non familiari;
− in una complessa interazione con età, sesso e livello di educazione, i deficit sensoriali sono risultati fattore di rischio per una diminuzione della preferenza per le verdure e per la disposizione a provare cibi non familiari;
− attraverso uno studio di associazione su tutto il genoma, un nuovo gene candidato (CAV1) è stato trovato associato alla disinibizione alimentare e alle preferenze. Questo gene, sebbene nel nostro campione non sia associato a misure di obesità, è stato ampiamente studiato riguardo a disordini metabolici, e, tramite modelli animali, è stato evidenziato un legame con l'obesità;
− sono state trovate relazioni tra preferenze alimentari ed adiposità, lipidi, glucosio e pressione arteriosa sistolica. Per esempio, una maggiore adiposità è associata a una maggiore preferenza per carne e formaggi, mentre valori più alti di colesterolo HDL sono associati a una maggiore preferenza per le verdure;
− mediante l’analisi del “polygenic risk score”, è stato trovato un legame tra alcune misure di obesità e uno score ottenuto da varianti genetiche già riscontrate in associazione con la preferenza per diverse verdure.
In conclusione, questi risultati evidenziano l’importanza di valutare le preferenze alimentari in combinazione con altri fattori e suggeriscono il possibile utilizzo delle preferenze in studi nutrizionali come misure rappresentative dei consumi. Nel complesso, questi risultati rappresentano un punto di inizio per una migliore conoscenza e comprensione dei complessi meccanismi che intercorrono tra preferenze alimentari, fattori associati e fenotipi legati alla dieta.Food liking is influenced by a large number of factors including physiological, nutritional, environmental, socio-cultural and genetics. From previous studies emerged that survey-reported food liking may reflect habitual consumption, being simpler to draw compared to intake, and may be associated with risk factors for diet-related diseases. Obtaining a better knowledge of genetic and non-genetic effects on food liking and the implication of food liking on diet-related diseases, for example obesity or hypertension, is of considerable public health importance.
This work aims to study the genetic and non-genetic factors influencing food liking and to investigate the relationship between food liking and health status.
The study was carried out thanks to the availability of an extensive database of about 3000 individuals coming from three regions of Italy.
Liking for approximately 100 different foods and beverages were evaluated on a 9-point hedonic scale. Food liking were analysed in relationship with personal and lifestyle information, clinical parameters, eating behaviour phenotypes, sensory and genetic data.
The following results were achieved:
- food liking was associated with non-genetic factors, comprising gender, age, educational level, physical activity and eating behaviour. For example, men, compared to women, reported a significantly higher liking for alcoholic beverages, fish and meat and a lower liking for vegetables, fruit and sweet foods; moreover, a higher liking for all foods was associated with higher self-reported willingness to try unfamiliar foods (food adventurousness):
- in a complex interplay with age, sex and educational level, sensory deficits were a risk factor for a decreasing of liking for vegetables and a reduced food adventurousness;
- a new candidate gene (CAV1) for eating disinhibition and food liking was found, through Genome-Wide Association study and replication analysis. This gene, although not associated in our sample with obesity measures, has been largely investigated for metabolic disorders, and animal models confirmed a link with obesity;
- food liking measures were associated with adiposity, serum lipids, fasting glucose and systolic blood pressure. For instance, greater adiposity was associated with a higher liking for meat and cheeses, while higher HDL-cholesterol was associated with higher vegetables liking;
- through polygenic risk score analysis, a link was found between obesity measures and genetic score obtained using variants previously associated with liking for different vegetables.
In conclusion, these results highlight the importance to evaluate food liking in combination with other factors and suggest the possible use of food liking in nutritional studies as proxy of intake measures. Overall, these results represent a starting point to better understand the very complex interplay existing between food liking, associated factors and diet-related phenotypes
Investigation of the link between PROP taste perception and vegetables consumption using FAOSTAT data
No full textIn this work we investigated, in populations located in Central Asia, the relationship between PROP taste perception and vegetables liking and consumption using FAOSTAT dataset. Collected data were analysed using distance matrices, Mantel test and Pearson correlation. Populations showing similar ability in tasting PROP bitterness are more similar as respect to vegetable consumption (r = 0.63, p-value = .05). Moreover, a significant negative correlation was found between the percentage of Non Taster (NT) in different countries and the percentage of vegetable consumption (r = -0.87, p-value = .02), while a significant positive correlation emerged between the percentage of Super Taster (ST) and the percentage of vegetable liking (r = 0.87, p-value = .02). In our work we showed that differences in bitter perception among populations contributes to differences in vegetable liking and vegetable consumption. More in detail, populations with higher percentage of ST consume more vegetables than population where the majority of individuals are NT
Identifying missing pieces in color vision defects: a genome-wide association study in Silk Road populations
Get PDFIntroduction: Color vision defects (CVDs) are conditions characterized by the alteration of normal trichromatic vision. CVDs can arise as the result of alterations in three genes (OPN1LW, OPN1MW, OPN1SW) or as a combination of genetic predisposition and environmental factors. To date, apart from Mendelian CVDs forms, nothing is known about multifactorial CVDs forms. Materials and Methods: Five hundred and twenty individuals from Silk Road isolated communities were genotyped and phenotypically characterized for CVDs using the Farnsworth D-15 color test. The CVDs traits Deutan-Protan (DP) and Tritan (TR) were analysed. Genome Wide Association Study for both traits was performed, and results were corrected with a False Discovery Rate linkage-based approach (FDR-p). Gene expression of final candidates was investigated using a published human eye dataset, and pathway analysis was performed. Results: Concerning DP, three genes: PIWIL4 (FDR-p: 9.01*10-9), MBD2 (FDR-p: 4.97*10-8) and NTN1 (FDR-p: 4.98*10-8), stood out as promising candidates. PIWIL4 is involved in the preservation of Retinal Pigmented Epithelium (RPE) homeostasis while MBD2 and NTN1 are both involved in visual signal transmission. With regards to TR, four genes: VPS54 (FDR-p: 4.09*10-9), IQGAP (FDR-p: 6,52*10-10), NMB (FDR-p: 8.34*10-11), and MC5R (FDR-p: 2.10*10-8), were considered promising candidates. VPS54 is reported to be associated with Retinitis pigmentosa; IQGAP1 is reported to regulate choroidal vascularization in Age-Related Macular Degeneration; NMB is involved in RPE homeostasis regulation; MC5R is reported to regulate lacrimal gland function. Discussion: Overall, these results provide novel insights regarding a complex phenotype (i.e., CVDs) in an underrepresented population such as Silk Road isolated communities
Sensory Capacities and Eating Behavior: Intriguing Results from a Large Cohort of Italian Individuals
Get PDFEating behavior (EB) is a complex system influenced by many factors, but an undisputed role is played by the senses. In this work, we examined the effect of the sensory capacities on EB in 1152 Italian adult individuals. After administering a questionnaire on EB and assessing sensory performance through standard audiometric, olfactory, and taste tests, the prevalence of reduced sensory capacities (RSCs) and the correlation with selected risk factors were calculated. Regression models, structural equation modelling, and conditional recursive partitioning were used to investigate the relationship between variables. Around 70% of the subjects show reduced capacities in at least one sense, with taste being the most prevalent (55.21%). Male sex, aging, and low educational level are risk factors for RSCs. The increased number of senses with reduced capacities is a predictor of diminished food adventurousness and lower liking for vegetables, fish, and alcoholic beverages, while reduced capacities (RCs) in taste is a predictor of lower liking for alcoholic beverages and sweets. Overall, in addition to providing an overall picture of RSCs in Italian samples, our study reveals the association of RSCs with EB variables. This finding could have a relevant role in influencing individuals’ dietary habits and, therefore, health status
Environmental and genetic contribution to hypertension prevalence: data from an epidemiological survey on Sardinian genetic isolates.
No full textBackground and objectivesHypertension represents a major cause of cardiovascular morbidity and mortality worldwide but its prevalence has been shown to vary in different countries. The reasons for such differences are still matter of debate, the relative contributions given by environmental and genetic factors being still poorly defined. We estimated the current prevalence, distribution and determinants of hypertension in isolated Sardinian populations and also investigated the environmental and genetic contribution to hypertension prevalence taking advantage of the characteristics of such populations.Methods and resultsAn epidemiological survey with cross-sectional design was carried out measuring blood pressure in 9845 inhabitants of 10 villages of Ogliastra region between 2002 and 2008. Regression analysis for assessing blood pressure determinants and variance component models for estimating heritability were performed. Overall 38.8% of this population had hypertension, its prevalence varying significantly by age, sex and among villages taking into account age and sex structure of their population. About 50% of hypertensives had prior cardiovascular disease. High blood pressure was independently associated with age, obesity related factors, heart rate, total cholesterol, alcohol consumption, low education and smoking status, all these factors contributing more in women than in men. Heritability was 27% for diastolic and 36% for systolic blood pressure, its contribution being significantly higher in men (57%) than in women (46%). Finally, the genetic correlation between systolic and diastolic blood pressure was 0.74, indicating incomplete pleiotropy.ConclusionGenetic factors involved in the expression of blood pressure traits account for about 30% of the phenotypic variance, but seem to play a larger role in men; comorbidities and environmental factors remain of predominant importance, but seem to contribute much more in women
Regulator of G-Protein Signalling 9: A New Candidate Gene for Sweet Food Liking?
Get PDFGenetics plays an important role in individual differences in food liking, which influences food choices and health. Sweet food liking is a complex trait and has been associated with increased body mass index (BMI) and related comorbidities. This genome-wide association study (GWAS) aimed to investigate the genetics of sweet food liking using two adult discovery cohorts (n = 1109, n = 373) and an independent replication cohort (n = 1073). In addition, we tested the association of our strongest result on parameters related to behaviour (food adventurousness (FA) and reward dependence (RD) and health status (BMI and blood glucose). The results demonstrate a novel strong association between the Regulator of G-Protein Signalling 9 (RGS9I) gene, strongest single nucleotide polymorphism (SNP) rs58931966 (p-value 7.05 × 10−9 in the combined sample of discovery and replication), and sweet food liking, with the minor allele (A) being associated with a decreased sweet food liking. We also found that the A allele of the rs58931966 SNP was associated with decreased FA and RD, and increased BMI and blood glucose (p-values < 0.05). Differences were highlighted in sex-specific analysis on BMI and glucose. Our results highlight a novel genetic association with food liking and are indicative of genetic variation influencing the psychological–biological drivers of food preference. If confirmed in other studies, such genetic associations could allow a greater understanding of chronic disease management from both a habitual dietary intake and reward-related perspective
A Complete Picture of the CYP2D6 Heterogeneity in Northeastern Italian Genetic Isolates
Get PDFThe CYP2D6 gene is a highly polymorphic pharmacogene involved in the metabolism of 25% of commonly used drugs. We aim to assess the feasibility of extracting relevant pharmacogenomic information from Whole Genome Sequencing (WGS) data and to highlight any difference in CYP2D6 allele frequencies between the northeastern Italian and European populations. To achieve this aim, WGS was performed on two cohorts: 664 individuals from six different isolated communities (FIC) and 123 outbred Italian individuals (FOP). In silico CYP2D6 genotyping was performed and allele frequencies from the FIC cohort were compared to those of FOP and European individuals from 1000 Genomes. Interestingly, 18 alleles identified in FIC were absent in the control cohorts. In particular, 13 individuals carried the extremely rare CYP2D6*28x2 allele, whose activity is unknown. Moreover, we identified a carrier of the CYP2D6*34x2 allele, which has never been described before. The population structure and genetic differentiation of the cohorts were investigated, revealing that the genetic isolates differ only slightly from the outbred and the European populations, but still offer new insight into CYP2D6 heterogeneity. The findings described here will be relevant to tailoring the treatments in the northeastern Italian population
Odontostomatological Traits in North-Eastern Italy’s Isolated Populations: An Epidemiological Cross-Sectional Study
Get PDFMalocclusions and temporomandibular disorders (TMDs) are oral health problems that are spread worldwide. To date, few studies focused on their prevalence and associated risk factors are available. This study aims to define the prevalence and distribution of odontostomatological traits and evaluate specific risk factors in isolated villages in north-eastern Italy, taking advantage of their environmental homogeneity. Nine hundred and forty-four participants aged six to eighty-nine years were enrolled. Thirty-one odontostomatological phenotypes, classified into five domains (airways, bad habits, extraoral and intraoral parameters, TMDs, and teeth), were evaluated. A descriptive statistical analysis was performed; mixed logistic models were used to test the relationships among the traits. According to the study’s findings, Angle’s class I was prevalent (65.3%) followed by class II malocclusion (24.3%); class III and reversed overjet were the least frequent malocclusions (10.4% and 1.8%, respectively). Temporomandibular joint (TMJ) click/noise was prevalent among TMDs (34.7%). The statistically significant (p-value < 0.05) risk factors were ankyloglossia for phonetic issues (OR 1.90) and bruxism for TMJ click/noise (OR 1.70) and pain (OR 2.20). Overall, this work provides a picture of the prevalence of malocclusions and TMDs in a large Italian sample and reveals risk factors to take into account in the development of preventive strategies and treatments
A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies
Get PDFBackground: Structural variants (SVs) play a significant role in gene function and are implicated in numerous human diseases. With advances in sequencing technologies, identifying SVs through whole-genome sequencing (WGS) has become a key area of research. However, variability in SV detection persists due to the wide range of available tools and the absence of standardized methodologies. Methods: We assessed the accuracy of SV detection across various short-read (srWGS) and long-read (lrWGS) sequencing technologies—including Illumina short reads, PacBio long reads, and Oxford Nanopore Technologies (ONT) long reads—using deletion calls from the HG002 benchmark dataset. We examined how variables such as variant calling algorithms, reference genome choice, alignment strategies, and sequencing coverage influence SV detection performance. Results: DRAGEN v4.2 delivered the highest accuracy among ten srWGS callers tested. Notably, leveraging a graph-based multigenome reference improved SV calling in complex genomic regions. Moreover, we proved that combining minimap2 with Manta achieved performance comparable to DRAGEN for srWGS. For PacBio lrWGS data, Sniffles2 outperformed the other two tested tools. For ONT lrWGS, alignment with minimap2—among four aligners tested—consistently led to the best results. At up to 10× coverage, Duet achieved the highest accuracy, while at higher coverages, Dysgu yielded the best results. Conclusions: These results show for the first time that alignment software choice significantly impacts SV calling from srWGS, with results comparable to commercial solutions. For lrWGS, the performance depends on the technology and coverage
Genome-wide association studies on Northern Italy isolated populations provide further support concerning genetic susceptibility for major depressive disorder
No full textObjectives: Major depressive disorder (MDD) is a psychiatric disorder with pathogenesis influenced by both genetic and environmental factors. To date, the molecular-level understanding of its aetiology remains unclear. Thus, we aimed to identify genetic variants and susceptibility genes for MDD with a genome-wide association study (GWAS) approach.
Methods: We performed a meta-analysis of GWASs and a gene-based analysis on two Northern Italy isolated populations (cases/controls n = 166/472 and 33/320), followed by replication and polygenic risk score (PRS) analyses in Italian independent samples (cases n = 464, controls n = 339).
Results: We identified two novel MDD-associated genes, KCNQ5 (lead SNP rs867262, p = 3.82 × 10-9) and CTNNA2 (rs6729523, p = 1.25 × 10-8). The gene-based analysis revealed another six genes (p < 2.703 × 10-6): GRM7, CTNT4, SNRK, SRGAP3, TRAPPC9, and FHIT. No replication of the genome-wide significant SNPs was found in the independent cohort, even if 14 SNPs around CTNNA2 showed association with MDD and related phenotypes at the nominal level of p (<0.05). Furthermore, the PRS model developed in the discovery cohort discriminated cases and controls in the replication cohort.
Conclusions: Our work suggests new possible genes associated with MDD, and the PRS analysis confirms the polygenic nature of this disorder. Future studies are required to better understand the role of these findings in MDD
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