Publications by authors named "Maura Carrai"

18 Publications

  • Page 1 of 1

Canine parvovirus is shed infrequently by cats without diarrhoea in multi-cat environments.

Vet Microbiol 2021 Oct 10;261:109204. Epub 2021 Aug 10.

Sydney School of Veterinary Science, Faculty of Science, The University of Sydney, New South Wales 2006, Australia; Jockey Club College of Veterinary Medicine & Life Sciences, City University of Hong Kong, Kowloon Tong, Hong Kong Special Administrative Region, China. Electronic address:

Whether subclinical shedding of canine parvovirus (CPV) by cats might contribute to the epidemiology of canine CPV infections, particularly in facilities housing both cats and dogs, requires clarification. Conflicting results are reported to date. Using conventional PCR (cPCR) to amplify the VP2 gene, shedding of the CPV variants (CPV-2a, 2b, 2c) by healthy cats in multi-cat environments was reportedly common in Europe but rare in Australia. The aim of this study was to determine whether low-level faecal CPV shedding occurs in multi-cat environments in Australia and Italy using a TaqMan real-time PCR to detect Carnivore protoparvovirus 1 (CPV and feline parvovirus, FPV) DNA, and minor-groove binder probe real-time PCR assay to differentiate FPV and CPV types and to characterize CPV variants. In total, 741 non-diarrhoeic faecal samples from shelters in Australia (n = 263) and from shelters or cat colonies in Italy (n = 478) were tested. Overall, Carnivore protoparvovirus 1 DNA was detected in 49 of 741 (6.61 %) samples. Differentiation was possible for 31 positive samples. FPV was most common among positive samples (28/31, 90.3 %). CPV was detected in 4/31 samples (12.9 %) including CPV-2a in one sample, CPV-2b in another and co-infections of FPV/CPV-2b and CPV-2a/CPV-2b in the remaining two samples. A high rate of subclinical FPV infection was detected in one shelter during an outbreak of feline panleukopenia, during which 21 of 22 asymptomatic cats (95.5 %) sampled were shedding FPV. Faecal shedding of CPV by cats in multi-cat environments is uncommon suggesting that domestic cats are not significant reservoirs of CPV.
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http://dx.doi.org/10.1016/j.vetmic.2021.109204DOI Listing
October 2021

Dysbiosis of the Urinary Bladder Microbiome in Cats with Chronic Kidney Disease.

mSystems 2021 Aug 27;6(4):e0051021. Epub 2021 Jul 27.

Centre for Companion Animal Health, Jockey Club College of Veterinary Medicine and Life Sciences, City University of Hong Konggrid.35030.35, Hong Kong SAR.

Although feline urinary tract diseases cause high morbidity and mortality rates, and subclinical bacteriuria is not uncommon, the feline urinary microbiome has not been characterized. We conducted a case-control study to identify the feline urinary bladder microbiome and assess its association with chronic kidney disease (CKD), feline idiopathic cystitis (FIC), and positive urine cultures (PUCs). Of 108 feline urine samples subjected to 16S rRNA gene sequencing, 48 (44.4%) samples reached the 500-sequence rarefaction threshold and were selected for further analysis, suggesting that the feline bladder microbiome is typically sparse. Selected samples included 17 CKD, 9 FIC, 8 PUC cases and 14 controls. Among these, 19 phyla, 145 families, and 218 genera were identified. were the most abundant, followed by . Notably, four major urotypes were identified, including two urotypes predominated by Escherichia or and two others characterized by relatively high alpha diversity, Diverse 1 and Diverse 2. Urotype was associated with disease status ( value of 0.040), with the Escherichia-predominant urotype being present in 53% of CKD cases and in all of the Escherichia coli PUC cases. Reflecting these patterns, the overall microbial composition of CKD cases was more similar to that of E. coli PUC cases than to that of controls ( value of <0.001). Finally, PUC cases had microbial compositions distinct from those of controls as well as CKD and FIC cases, with significantly lower Shannon diversity and Faith's phylogenetic diversity values. Despite the clinical importance of urinary diseases in cats, the presence of resident urine microbes has not been demonstrated in cats, and the role of these microbes as a community in urinary health remains unknown. Here, we have shown that cats with and without urinary tract disease harbor unique microbial communities in their urine. We found no evidence to suggest that the bladder microbiome is implicated in the pathogenesis of feline idiopathic cystitis, a disease similar to bladder pain syndrome/interstitial cystitis in humans. However, cats with chronic kidney disease had dysbiosis of their bladder microbiome, which was predominated by Escherichia and had a community structure similar to that of cats with Escherichia coli cystitis. These findings suggest that chronic kidney disease alters the bladder environment to favor Escherichia colonization, potentially increasing the risk of overt clinical infection.
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http://dx.doi.org/10.1128/mSystems.00510-21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8407359PMC
August 2021

Identification of Novel Astroviruses in the Gastrointestinal Tract of Domestic Cats.

Viruses 2020 11 12;12(11). Epub 2020 Nov 12.

School of Veterinary Science, Faculty of Science, University of Sydney, Sydney, NSW 2006, Australia.

Astroviruses, isolated from numerous avian and mammalian species including humans, are commonly associated with enteritis and encephalitis. Two astroviruses have previously been identified in cats, and while definitive evidence is lacking, an association with enteritis is suggested. Using metagenomic next-generation sequencing of viral nucleic acids from faecal samples, we identified two novel feline astroviruses termed Feline astrovirus 3 and 4. These viruses were isolated from healthy shelter-housed kittens (Feline astrovirus 3; 6448 bp) and from a kitten with diarrhoea that was co-infected with Feline parvovirus (Feline astrovirus 4, 6549 bp). Both novel astroviruses shared a genome arrangement of three open reading frames (ORFs) comparable to that of other astroviruses. Phylogenetic analysis of the concatenated ORFs, ORF1a, ORF1b and capsid protein revealed that both viruses were phylogenetically distinct from other feline astroviruses, although their precise evolutionary history could not be accurately determined due to a lack of resolution at key nodes. Large-scale molecular surveillance studies of healthy and diseased cats are needed to determine the pathogenicity of feline astroviruses as single virus infections or in co-infections with other enteric viruses.
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http://dx.doi.org/10.3390/v12111301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7697530PMC
November 2020

Analysis of canine parvoviruses circulating in Australia reveals predominance of variant 2b and identifies feline parvovirus-like mutations in the capsid proteins.

Transbound Emerg Dis 2021 Mar 29;68(2):656-666. Epub 2020 Jul 29.

Faculty of Science, Sydney School of Veterinary Science, University of Sydney, Camperdown, NSW, Australia.

Canine parvovirus (CPV) is a major enteric pathogen of dogs worldwide that emerged in the late 1970s from a feline parvovirus (FPV)-like ancestral virus. Shortly after its emergence, variant CPVs acquired amino acid (aa) mutations in key capsid residues, associated with biological and/or antigenic changes. This study aimed to identify and analyse CPV variants and their capsid mutations amongst Australian dogs, to gain insights into the evolution of CPV in Australia and to investigate relationships between the disease and vaccination status of dogs from which viruses were detected. CPV VP2 sequences were amplified from 79 faecal samples collected from dogs with parvoviral enteritis at 20 veterinary practices in five Australian states. The median age at diagnosis was 4 months (range 1-96 months). Only 3.7% of dogs with vaccination histories had completed recommended vaccination schedules, while 49% were incompletely vaccinated and 47.2% were unvaccinated. For the first time, CPV-2b has emerged as the dominant antigenic CPV variant circulating in dogs with parvoviral enteritis in Australia, comprising 54.4% of viruses, while CPV-2a and CPV-2 comprised 43.1% and 2.5%, respectively. The antigenic variant CPV-2c was not identified. Analysis of translated VP2 sequences revealed a vast repertoire of amino acid (aa) mutations. Several Australian CPV strains displayed signatures in the VP2 protein typical of Asian CPVs, suggesting possible introduction of CPV strains from Asia, and/or CPV circulation between Asia and Australia. Canine parvoviruses were identified containing aa residues typical of FPV at key capsid (VP2) positions, representing reverse mutations or residual mutations retained from CPV-2 during adaptation from an FPV-like ancestor, suggesting that evolutionary intermediates between CPV-2 and FPV are circulating in the field. Similarly, intermediates between CPV-2a-like viruses and CPV-2 were also identified. These findings help inform a better understanding of the evolution of CPV in dogs.
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http://dx.doi.org/10.1111/tbed.13727DOI Listing
March 2021

Phylogenetic and Geospatial Evidence of Canine Parvovirus Transmission between Wild Dogs and Domestic Dogs at the Urban Fringe in Australia.

Viruses 2020 06 19;12(6). Epub 2020 Jun 19.

Sydney School of Veterinary Science, The University of Sydney, Sydney, NSW 2006, Australia.

Canine parvovirus (CPV) is an important cause of disease in domestic dogs. Sporadic cases and outbreaks occur across Australia and worldwide and are associated with high morbidity and mortality. Whether transmission of CPV occurs between owned dogs and populations of wild dogs, including , and hybrids, is not known. To investigate the role of wild dogs in CPV epidemiology in Australia, PCR was used to detect CPV DNA in tissue from wild dogs culled in the peri-urban regions of two Australian states, between August 2012 and May 2015. CPV DNA was detected in 4.7% (8/170). There was a strong geospatial association between wild-dog CPV infections and domestic-dog CPV cases reported to a national disease surveillance system between 2009 and 2015. Postcodes in which wild dogs tested positive for CPV were 8.63 times more likely to also have domestic-dog cases reported than postcodes in which wild dogs tested negative ( = 0.0332). Phylogenetic analysis of CPV VP2 sequences from wild dogs showed they were all CPV-2a variants characterized by a novel amino acid mutation (21-Ala) recently identified in CPV isolates from owned dogs in Australia with parvoviral enteritis. Wild-dog CPV VP2 sequences were compared to those from owned domestic dogs in Australia. For one domestic-dog case located approximately 10 km from a wild-dog capture location, and reported 3.5 years after the nearest wild dog was sampled, the virus was demonstrated to have a closely related common ancestor. This study provides phylogenetic and geospatial evidence of CPV transmission between wild and domestic dogs in Australia.
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http://dx.doi.org/10.3390/v12060663DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7354627PMC
June 2020

Feline Parvovirus Seroprevalence Is High in Domestic Cats from Disease Outbreak and Non-Outbreak Regions in Australia.

Viruses 2020 03 16;12(3). Epub 2020 Mar 16.

Sydney School of Veterinary Science, Faculty of Science, University of Sydney, Camperdown, NSW 2050, Australia.

Multiple, epizootic outbreaks of feline panleukopenia (FPL) caused by feline parvovirus(FPV) occurred in eastern Australia between 2014 and 2018. Most affected cats were unvaccinated.We hypothesised that low population immunity was a major driver of re-emergent FPL. The aim ofthis study was to (i) determine the prevalence and predictors of seroprotective titres to FPV amongshelter-housed and owned cats, and (ii) compare the prevalence of seroprotection between a regionaffected and unaffected by FPL outbreaks. FPV antibodies were detected by haemagglutinationinhibition assay on sera from 523 cats and titres ≥1:40 were considered protective. Socioeconomicindices based on postcode and census data were included in the risk factor analysis. The prevalenceof protective FPV antibody titres was high overall (94.3%), even though only 42% of cats wereknown to be vaccinated, and was not significantly different between outbreak and non-outbreakregions. On multivariable logistic regression analysis vaccinated cats were 29.94 times more likelyto have protective FPV titres than cats not known to be vaccinated. Cats from postcodes of relativelyless socioeconomic disadvantage were 5.93 times more likely to have protective FPV titres. Thepredictors identified for FPV seroprotective titres indicate targeted vaccination strategies in regionsof socioeconomic disadvantage would be beneficial to increase population immunity. The criticallevel of vaccine coverage required to halt FPV transmission and prevent FPL outbreaks should bedetermined.
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http://dx.doi.org/10.3390/v12030320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7150783PMC
March 2020

Identification of A Novel Papillomavirus Associated with Squamous Cell Carcinoma in A Domestic Cat.

Viruses 2020 01 20;12(1). Epub 2020 Jan 20.

Sydney School of Veterinary Science, Faculty of Science, University of Sydney, Sydney NSW 2006, Australia.

Papillomaviruses infect the skin and mucosal surfaces of diverse animal hosts with consequences ranging from asymptomatic colonization to highly malignant epithelial cancers. Increasing evidence suggests a role for papillomaviruses in the most common cutaneous malignancy of domestic cats, squamous cell carcinoma (SCC). Using total DNA sequencing we identified a novel feline papillomavirus in a nasal biopsy taken from a cat presenting with both nasal cavity lymphoma and recurrent squamous cell carcinoma affecting the nasal planum. We designate this novel virus as Felis catus papillomavirus 6 (FcaPV6). The complete FcaPV6 7453 bp genome was similar to those of other feline papillomaviruses and phylogenetic analysis revealed that it was most closely related to FcaPV3, although was distinct enough to represent a new viral type. Classification of FcaPV6 in a new genus alongside FcaPVs 3, 4 and 5 is supported. Archived excisional biopsy of the SCC, taken 20 months prior to presentation, was intensely positive on p16 immunostaining. FcaPV6, amplified using virus-specific, but not consensus, PCR, was the only papillomavirus detected in DNA extracted from the SCC. Conversely, renal lymphoma, sampled at necropsy two months after presentation, tested negative on FcaPV6-specific PCR. In sum, using metagenomics we demonstrate the presence of a novel feline papillomavirus in association with cutaneous squamous cell carcinoma.
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http://dx.doi.org/10.3390/v12010124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7019393PMC
January 2020

Distinct Lineages of Feline Parvovirus Associated with Epizootic Outbreaks in Australia, New Zealand and the United Arab Emirates.

Viruses 2019 12 13;11(12). Epub 2019 Dec 13.

Sydney School of Veterinary Science, Faculty of Science, University of Sydney, Camperdown NSW 2050, Australia.

Feline panleukopenia (FPL), a frequently fatal disease of cats, is caused by feline parvovirus (FPV) or canine parvovirus (CPV). We investigated simultaneous outbreaks of FPL between 2014 and 2018 in Australia, New Zealand and the United Arab Emirates (UAE) where FPL outbreaks had not been reported for several decades. Case data from 989 cats and clinical samples from additional 113 cats were obtained to determine the cause of the outbreaks and epidemiological factors involved. Most cats with FPL were shelter-housed, 9 to 10 weeks old at diagnosis, unvaccinated, had not completed a primary vaccination series or had received vaccinations noncompliant with current guidelines. Analysis of parvoviral VP2 sequence data confirmed that all FPL cases were caused by FPV and not CPV. Phylogenetic analysis revealed that each of these outbreaks was caused by a distinct FPV, with two virus lineages present in eastern Australia and virus movement between different geographical locations. Viruses from the UAE outbreak formed a lineage of unknown origin. FPV vaccine virus was detected in the New Zealand cases, highlighting the difficulty of distinguishing the co-incidental shedding of vaccine virus in vaccinated cats. Inadequate vaccination coverage in shelter-housed cats was a common factor in all outbreaks, likely precipitating the multiple re-emergence of infection events.
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http://dx.doi.org/10.3390/v11121155DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6950618PMC
December 2019

Umbilical tissue as a sampling technique for DNA testing in neonate dogs.

Anim Genet 2018 Oct 5;49(5):499-500. Epub 2018 Aug 5.

School of Life and Environmental Sciences, Faculty of Science, University of Sydney, Camperdown, NSW, 2006, Australia.

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http://dx.doi.org/10.1111/age.12706DOI Listing
October 2018

Association between taste receptor (TAS) genes and the perception of wine characteristics.

Sci Rep 2017 08 23;7(1):9239. Epub 2017 Aug 23.

Department of Biology, Pisa University, Pisa, Italy.

Several studies have suggested a possible relationship between polymorphic variants of the taste receptors genes and the acceptance, liking and intake of food and beverages. In the last decade investigators have attempted to link the individual ability to taste 6-n-propylthiouracil (PROP) and the sensations, such as astringency and bitterness, elicited by wine or its components, but with contradictory results. We have used the genotype instead of the phenotype (responsiveness to PROP or other tastants), to test the possible relation between genetic variability and the perception of wine characteristic in 528 subjects from Italy and the Czech Republic. We observed several interesting associations, among which the association between several TAS2R38 gene single nucleotide polymorphisms (P = 0.002) and the TAS2R16-rs6466849 polymorphism with wine sourness P = 0.0003). These associations were consistent in both populations, even though the country of origin was an important factor in the two models, thus indicating therefore that genetics alongside cultural factors also play a significant role in the individual liking of wine.
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http://dx.doi.org/10.1038/s41598-017-08946-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5569080PMC
August 2017

Association of the bitter taste receptor gene TAS2R38 (polymorphism RS713598) with sensory responsiveness, food preferences, biochemical parameters and body-composition markers. A cross-sectional study in Italy.

Int J Food Sci Nutr 2018 Mar 24;69(2):245-252. Epub 2017 Jul 24.

a Department of Public Health, Experimental and Forensic Medicine, Section of Human Nutrition, Endocrinology and Nutrition Unit, Azienda di Servizi alla Persona , University of Pavia , Pavia , Italy.

This study examined the relationship between TAS2R38 gene polymorphism (RS713598), G/G, C/G or C/C genotype, and sensory responsiveness, food preferences, biochemical parameters and body composition in a cross-sectional study in 118 adults (24 men and 94 women). The frequencies of C/C, G/G and C/G were respectively 20.3%, 29.7% and 50.0%. As regards taste responsiveness, subjects with G-allele had a higher perception threshold than the C/C genotype for 6-n-propyl-2-thiouracil (PROP) (p < .05), and caffeine (p < .05). The G-alleles had higher preferences for beer (OR: 6.25; p < .05), but lower for butter (OR: 0.64; p < .05) and cured meat (OR: 0.55; p < .05). Biochemical parameters and body composition markers did not differ between genotypes. Subjects with RS713598 polymorphism had a higher bitter taste perception threshold and higher or lower preferences for selected nutrient/energy dense foods, such as beer, butter and cured meat.
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http://dx.doi.org/10.1080/09637486.2017.1353954DOI Listing
March 2018

Global diversity in the TAS2R38 bitter taste receptor: revisiting a classic evolutionary PROPosal.

Sci Rep 2016 05 3;6:25506. Epub 2016 May 3.

National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD 20892, USA.

The ability to taste phenylthiocarbamide (PTC) and 6-n-propylthiouracil (PROP) is a polymorphic trait mediated by the TAS2R38 bitter taste receptor gene. It has long been hypothesized that global genetic diversity at this locus evolved under pervasive pressures from balancing natural selection. However, recent high-resolution population genetic studies of TAS2Rs suggest that demographic events have played a critical role in the evolution of these genes. We here utilized the largest TAS2R38 database yet analyzed, consisting of 5,589 individuals from 105 populations, to examine natural selection, haplotype frequencies and linkage disequilibrium to estimate the effects of both selection and demography on contemporary patterns of variation at this locus. We found signs of an ancient balancing selection acting on this gene but no post Out-Of-Africa departures from neutrality, implying that the current observed patterns of variation can be predominantly explained by demographic, rather than selective events. In addition, we found signatures of ancient selective forces acting on different African TAS2R38 haplotypes. Collectively our results provide evidence for a relaxation of recent selective forces acting on this gene and a revised hypothesis for the origins of the present-day worldwide distribution of TAS2R38 haplotypes.
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http://dx.doi.org/10.1038/srep25506DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853779PMC
May 2016

Population-specific association of genes for telomere-associated proteins with longevity in an Italian population.

Biogerontology 2015 Jun 29;16(3):353-64. Epub 2015 Jan 29.

Department of Biology, Ecology and Earth Science, University of Calabria, 87036, Rende, Italy.

Leukocyte telomere length (LTL) has been observed to be hereditable and correlated with longevity. However, contrasting results have been reported in different populations on the value of LTL heritability and on how biology of telomeres influences longevity. We investigated whether the variability of genes correlated to telomere maintenance is associated with telomere length and affects longevity in a population from Southern Italy (20-106 years). For this purpose we analyzed thirty-one polymorphisms in eight telomerase-associated genes of which twelve in the genes coding for the core enzyme (TERT and TERC) and the remaining in genes coding for components of the telomerase complex (TERF1, TERF2, TERF2IP, TNKS, TNKS2 and TEP1). We did not observe (after correcting for multiple testing) statistically significant associations between SNPs and LTL, possibly suggesting a low genetic influence of the variability of these genes on LTL in the elderly. On the other hand, we found that the variability of genes encoding for TERF1 and TNKS2, not directly involved in LTL, but important for keeping the integrity of the structure, shows a significant association with longevity. This suggests that the maintenance of these chromosomal structures may be critically important for preventing, or delaying, senescence and aging. Such a correlation was not observed in a population from northern Italy that we used as an independent replication set. This discrepancy is in line with previous reports regarding both the population specificity of results on telomere biology and the differences of aging in northern and southern Italy.
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http://dx.doi.org/10.1007/s10522-015-9551-6DOI Listing
June 2015

Direct genotyping of C3435T single nucleotide polymorphism in unamplified human MDR1 gene using a surface plasmon resonance imaging DNA sensor.

Anal Bioanal Chem 2015 May 27;407(14):4023-8. Epub 2015 Jan 27.

Dipartimento di Chimica "Ugo Schiff", Università di Firenze, Via della Lastruccia 3-13, 50019, Sesto Fiorentino, FI, Italy.

Optical genotyping of C3435T single nucleotide polymorphisms (SNPs) in unamplified human multidrug resistance (MDR1) gene was here performed by a surface plasmon resonance imaging (SPRi) dual-targeting DNA assay, allowing its selective detection down to 0.18 fM of the whole genomic DNA. The result was achieved by the combination of the rational selection of the DNA probe and an optimized sample pretreatment (i.e., ultrasound fragmentation and thermal denaturation). Some assay developments and tunings were reported in a previously published research, but here, for the first time, the biosensor reliability and its analytical performance were directly tested on the unamplified human DNA extracted from lymphocytes. The assay resulted to be able to differentiate among all the possible genotypes of C3435T (homozygote and heterozygote) in the diluted genomic samples using a label-free approach and by bypassing the classical PCR amplification of the target sequences. Moreover, the reusability of the DNA-based chip allowed up to 40 subsequent measuring cycles, opening new horizons in multi-SNP genotyping based on cheap and daily routine clinical monitoring by optical biosensing.
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http://dx.doi.org/10.1007/s00216-014-8424-1DOI Listing
May 2015

Bitter taste receptor polymorphisms and human aging.

PLoS One 2012 2;7(11):e45232. Epub 2012 Nov 2.

Genomic Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.

Several studies have shown that genetic factors account for 25% of the variation in human life span. On the basis of published molecular, genetic and epidemiological data, we hypothesized that genetic polymorphisms of taste receptors, which modulate food preferences but are also expressed in a number of organs and regulate food absorption processing and metabolism, could modulate the aging process. Using a tagging approach, we investigated the possible associations between longevity and the common genetic variation at the three bitter taste receptor gene clusters on chromosomes 5, 7 and 12 in a population of 941 individuals ranging in age from 20 to 106 years from the South of Italy. We found that one polymorphism, rs978739, situated 212 bp upstream of the TAS2R16 gene, shows a statistically significant association (p = 0.001) with longevity. In particular, the frequency of A/A homozygotes increases gradually from 35% in subjects aged 20 to 70 up to 55% in centenarians. These data provide suggestive evidence on the possible correlation between human longevity and taste genetics.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0045232PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3487725PMC
May 2013

Association between TAS2R38 gene polymorphisms and colorectal cancer risk: a case-control study in two independent populations of Caucasian origin.

PLoS One 2011 2;6(6):e20464. Epub 2011 Jun 2.

Department of Biology, University of Pisa, Pisa, Italy.

Molecular sensing in the lingual mucosa and in the gastro-intestinal tract play a role in the detection of ingested harmful drugs and toxins. Therefore, genetic polymorphisms affecting the capability of initiating these responses may be critical for the subsequent efficiency of avoiding and/or eliminating possible threats to the organism. By using a tagging approach in the region of Taste Receptor 2R38 (TAS2R38) gene, we investigated all the common genetic variation of this gene region in relation to colorectal cancer risk with a case-control study in a German population (709 controls and 602 cases) and in a Czech population (623 controls and 601 cases). We found that there were no significant associations between individual SNPs of the TAS2R38 gene and colorectal cancer in the Czech or in the German population, nor in the joint analysis. However, when we analyzed the diplotypes and the phenotypes we found that the non-taster group had an increased risk of colorectal cancer in comparison to the taster group. This association was borderline significant in the Czech population, (OR = 1.28, 95% CI 0.99-1.67; P(value) = 0.058) and statistically significant in the German population (OR = 1.36, 95% CI 1.06-1.75; P(value) = 0.016) and in the joint analysis (OR = 1.34, 95% CI 1.12-1.61; P(value) = 0.001). In conclusion, we found a suggestive association between the human bitter tasting phenotype and the risk of CRC in two different populations of Caucasian origin.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0020464PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3107225PMC
September 2011

A gene-wide investigation on polymorphisms in the taste receptor 2R14 (TAS2R14) and susceptibility to colorectal cancer.

BMC Med Genet 2010 Jun 9;11:88. Epub 2010 Jun 9.

German Cancer Research Center (DKFZ), Heidelberg, Germany.

Background: Molecular sensing in the gastro-intestinal (GI) tract is responsible for the detection of ingested harmful drugs and toxins, thereby genetic polymorphisms affecting the capability of initiating these responses may be critical for the subsequent efficiency of the gut in eliminating possible threats to the organism. Although these fundamental control systems have been known for long time, the initial molecular recognition events that sense the chemical composition of the luminal contents of the GI tract have remained elusive. TAS2R14 is one of the better characterized members of the taste receptor family and has several polymorphic variants. Several substances that have been shown to activate TAS2R14 are powerful toxic and carcinogenic agents.

Methods: Using a tagging approach we investigated all the common genetic variation of the gene region in relation to colon cancer risk with a case-control study design. This is, at the best of our knowledge also the first report on the allele frequencies of the gene in the Caucasian population.

Results: We found no evidence of statistically significant associations between polymorphisms in the TAS2R14 gene and colon cancer risk.

Conclusion: In conclusion we can confidently exclude a major role for common polymorphisms of the TAS2R14 gene in colorectal cancer risk in this population, although in this report we had insufficient statistical power to completely exclude the possibility that rare variants of the TAS2R14 might be involved in colorectal cancer risk.
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http://dx.doi.org/10.1186/1471-2350-11-88DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2893173PMC
June 2010
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