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1.
Medicine (Baltimore) ; 99(30): e21331, 2020 Jul 24.
Artigo em Inglês | MEDLINE | ID: mdl-32791730

RESUMO

The aim of this study was to elucidate the possible association between migration inhibitory factor (MIF)-173G/C gene polymorphisms and transcript and plasma levels of MIF in spinal tuberculosis (TB) patients. Clinical data were collected from 254 spinal TB patients and 262 healthy controls participating in the study. The genotype of the MIF-173G/C gene was amplified by polymerase chain reaction and genotyped by DNA sequencing technology. The level of mRNA expression was determined by real-time polymerase chain reaction and MIF plasma levels were measured by a solid-phase enzyme-linked immunosorbent assay. The frequency of the C allele and GC+CC genotype in MIF-173G/C was over-represented in spinal TB patients. The mean MIF mRNA level in spinal TB patients and patients with the GG and GC+CC genotype were significantly lower than controls; however, our study also indicated that the MIF concentration in spinal TB patients and patients with the GG and GC+CC genotypes were significantly higher than controls. Spinal TB patients with the GG genotype had higher MIF plasma levels than patients with the GC+CC genotype. The C-reactive protein level and erythrocyte sedimentation rate was correlated with the MIF plasma level. In summary, the association between the MIF-173G/C genetic polymorphism, reduced transcript and increased plasma levels of MIF in spinal TB patients, and MIF may play an important role in the occurrence, development, and damage of spinal TB in the northern Province population of China.


Assuntos
Fatores Inibidores da Migração de Macrófagos/sangue , Polimorfismo Genético/genética , RNA Mensageiro/genética , Tuberculose da Coluna Vertebral/genética , Adulto , Alelos , Sedimentação Sanguínea , Proteína C-Reativa/metabolismo , Estudos de Casos e Controles , China/epidemiologia , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Análise de Sequência de DNA/métodos
2.
Nat Commun ; 11(1): 4058, 2020 08 13.
Artigo em Inglês | MEDLINE | ID: mdl-32792480

RESUMO

Tomatoes come in a multitude of shapes and flavors despite a narrow genetic pool. Here, we leverage whole-genome resequencing data available for 602 cultivated and wild accessions to determine the contribution of transposable elements (TEs) to tomato diversity. We identify 6,906 TE insertions polymorphisms (TIPs), which result from the mobilization of 337 distinct TE families. Most TIPs are low frequency variants and TIPs are disproportionately located within or adjacent to genes involved in environmental responses. In addition, genic TE insertions tend to have strong transcriptional effects and they can notably lead to the generation of multiple transcript isoforms. Using genome-wide association studies (GWAS), we identify at least 40 TIPs robustly associated with extreme variation in major agronomic traits or secondary metabolites and in most cases, no SNP tags the TE insertion allele. Collectively, these findings highlight the unique role of TE mobilization in tomato diversification, with important implications for breeding.


Assuntos
Elementos de DNA Transponíveis/genética , Lycopersicon esculentum/genética , Evolução Molecular , Genoma de Planta/genética , Estudo de Associação Genômica Ampla , Polimorfismo Genético/genética
3.
Mutat Res ; 785: 108322, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32800273

RESUMO

Treatment with interferon beta (IFNß) is one of the first-line treatments for multiple sclerosis. In clinical practice, however, many patients present suboptimal response to IFNß, with the proportion of non-responders ranging from 20 to 50%. This variable response can be affected by genetic factors, such as polymorphisms in the genes involved in the disease state, pharmacodynamics, metabolism or in the action mechanism of IFNß, which can affect the efficacy of this drug. This review assesses the impact of pharmacogenetics studies on response to IFNß treatment among patients diagnosed with relapsing-remitting multiple sclerosis (RRMS). The results suggest that the detection of polymorphisms in several genes (CD46, CD58, FHIT, IRF5, GAPVD1, GPC5, GRBRB3, MxA, PELI3 and ZNF697) could be used in the future as predictive markers of response to IFNß treatment in patients diagnosed with RRMS. However, few studies have been carried out and they have been performed on small sample sizes, which makes it difficult to generalize the role of these genes in IFNß treatment. Studies on large sample sizes with longer term follow-up are therefore required to confirm these results.


Assuntos
Marcadores Genéticos/genética , Interferon beta/farmacocinética , Esclerose Múltipla Recidivante-Remitente/genética , Polimorfismo Genético/genética , Humanos , Esclerose Múltipla Recidivante-Remitente/tratamento farmacológico
4.
Rev Soc Bras Med Trop ; 53: e20190488, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32638886

RESUMO

INTRODUCTION: Chagas disease (CD) is a neglected disease caused by the parasite Trypanosoma cruzi. One-third of infected patients will develop the cardiac form, which may progress to heart failure (HF). However, the factors that determine disease progression remain unclear. Increased angiotensin II activity is a key player in the pathophysiology of HF. A functional polymorphism of the angiotensin-converting enzyme (ACE) gene is associated with plasma enzyme activity. In CD, ACE inhibitors have beneficial effects supporting the use of this treatment in chagasic cardiomyopathy. METHODS: We evaluated the association of ACE I/D polymorphism with HF, performing a case-control study encompassing 343 patients with positive serology for CD staged as non-cardiomyopathy (stage A; 100), mild (stage B1; 144), and severe (stage C; 99) forms of Chagas heart disease. For ACE I/D genotyping by PCR, groups were compared using unconditional logistic regression analysis and adjusted for nongenetic covariates: age, sex, and trypanocidal treatment. RESULTS: A marginal, but not significant (p=0.06) higher prevalence of ACE I/D polymorphism was observed in patients in stage C compared with patients in stage A. Patients in stage C (CD with HF), were compared with patients in stages A and B1 combined into one group (CD without HF); DD genotype/D carriers were prevalent in the HF patients (OR = 2; CI = 1.013.96; p = 0.04). CONCLUSIONS: Our results of this cohort study, comprising a population from the Northeast region of Brazil, suggest that ACE I/D polymorphism is more prevalent in the cardiac form of Chagas disease with HF.


Assuntos
Doença de Chagas/genética , Insuficiência Cardíaca/fisiopatologia , Peptidil Dipeptidase A/genética , Polimorfismo Genético/genética , Adulto , Inibidores da Enzima Conversora de Angiotensina , Brasil , Estudos de Casos e Controles , Doença de Chagas/fisiopatologia , Estudos de Coortes , Progressão da Doença , Feminino , Genótipo , Insuficiência Cardíaca/genética , Humanos , Masculino , Pessoa de Meia-Idade
5.
Angiology ; 71(10): 934-941, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32696678

RESUMO

This meta-analysis was conducted to estimate associations between CDKN2B antisense (CDKN2B-AS) polymorphisms and susceptibility to atherosclerotic cardio-cerebral vascular diseases (ASCVD). A systematic literature research of PubMed, Medline, Web of Science, Embase, and CNKI was performed to identify eligible studies. Overall, 34 studies were included for meta-analyses. Pooled overall analyses showed that rs1333040, rs1333049, rs2383206, and rs2383207 polymorphisms were associated with susceptibility to ASCVD in the whole population. Further analyses by ethnicity revealed that all investigated polymorphisms were associated with susceptibility to ASCVD in East Asians. Moreover, rs2383206, rs2383207, rs10757274, and rs10757278 polymorphisms were associated with susceptibility to ASCVD in West Asians, while rs2383206, rs10757274, and rs10757278 were associated with susceptibility to ASCVD in Caucasians. When we stratified eligible studies by type of disease, positive results were found for all investigated polymorphisms in patients with coronary artery disease (CAD) or myocardial infarction, whereas positive results were only detected for rs2383206 and rs10757274 polymorphisms in patients with ischemic stroke (IS). Our findings suggest that rs1333040, rs1333049, rs2383206, rs2383207, rs10757274, and rs10757278 polymorphisms might serve as genetic biomarkers of CAD, and rs2383206 and rs10757274 polymorphisms might serve as genetic biomarkers of IS.


Assuntos
Aterosclerose/genética , Transtornos Cerebrovasculares/genética , Polimorfismo Genético/genética , RNA Longo não Codificante/genética , Predisposição Genética para Doença/genética , Humanos
6.
Nutr. hosp ; 37(3): 524-533, mayo-jun. 2020. tab, graf
Artigo em Inglês | IBECS | ID: ibc-193860

RESUMO

BACKGROUND: food is a powerful reinforcer that motivates people to eat. The TaqI A1 polymorphism (rs1800497; T>C) downstream of the dopamine D2 receptor (DRD2) gene has been associated with diminished DRD2 receptor density, higher food reinforcement, and impaired eating behavior in adults. OBJECTIVE: to evaluate the association between the rs1800497 polymorphism and the reinforcing value of food and eating in the absence of hunger in Chilean children. MATERIAL AND METHOD: nineteen Chilean children (aged 8-12 years) who were carriers of the A1-allele and 19 age- and gender-matched non-carriers (A2-allele) were evaluated on the reinforcing value of food and eating in the absence of hunger. Anthropometric measures were performed by standard procedures. Briefly, children received a standard pre-load lunch followed by an ad-libitum exposure to palatable foods. RESULTS: no differences were found between A1-allele carriers and non-carriers, whether obese or non-obese, in ad libitum energy intake, macronutrient consumption, or the relative reinforcing value of food (p > 0.05). In obese children, A1 carriers reported significantly lower satiety and fullness before lunch (p < 0.05). However, in children with normal weight A1 carriers were found to exhibit trends for greater satiety and fullness before lunch when compared to non-carriers, but this trend reversed after lunch such that carriers exhibited lower satiety and fullness (p = 0.06). CONCLUSIONS: although TaqI A1 may play an important role in some eating behavior-related traits such as satiety and fullness, especially in obese children, our findings indicate that this polymorphism does not appear to affect eating in the absence of hunger or food reinforcement in children


ANTECEDENTES: los alimentos son un poderoso reforzador de la alimentación. El polimorfismo TaqI A1 (rs1800497; T> C) del gen del receptor 2 de dopamina (DRD2) se ha asociado con una menor densidad de DRD2, un mayor refuerzo alimentario y un comportamiento alimentario alterado en adultos. OBJETIVO: evaluar la asociación entre el polimorfismo rs1800497, el valor reforzador del alimento y la conducta de comer en ausencia de hambre en niños chilenos. MATERIAL Y MÉTODO: treinta y ocho niños chilenos, 19 portadores del alelo A1 y 19 no portadores (alelo A2), pareados por género y edad, fueron evaluados en condiciones de laboratorio para determinar el valor reforzador del alimento y la conducta de comer en ausencia de hambre. Las mediciones antropométricas se realizaron por procedimientos estándar. Brevemente, los niños recibieron un almuerzo estándar seguido de una exposición ad-libitum a alimentos sabrosos. RESULTADOS: no hubo diferencias en la ingesta ad libitum de energía, ni en el consumo de macronutrientes, ni en el valor reforzador del alimento entre los portadores del alelo A1 frente a los no portadores (p > 0,05). Entre los niños obesos, los portadores del alelo A1 reportaron un menor nivel de saciedad y plenitud pre-almuerzo (p < 0,05). Sin embargo, entre los niños con normopeso se observó que los portadores de A1 tenían tendencia a presentar un mayor grado de saciedad y plenitud (pre-almuerzo) frente a los no portadores. Esta tendencia se invirtió post-almuerzo, de modo que los portadores exhibieron menor saciedad y plenitud (p = 0,06). CONCLUSIONES: la variante TaqI A1 podría desempeñar un papel importante en algunos rasgos relacionados con la conducta alimentaria, como la saciedad y la plenitud


Assuntos
Humanos , Masculino , Feminino , Criança , Fome/fisiologia , Variação Genética/genética , Comportamento Alimentar/fisiologia , Ingestão de Energia/genética , Obesidade/genética , Receptores de Dopamina D2/genética , Chile , Variação Genética/efeitos dos fármacos , Polimorfismo Genético/genética , Antropometria , Peso Corporal/genética , Ingestão de Energia/fisiologia , Receptores de Dopamina D2/fisiologia
7.
Anticancer Res ; 40(6): 3277-3285, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32487623

RESUMO

BACKGROUND/AIM: The aim was to clarify whether DNA repair gene polymorphisms can be used to predict response to cisplatin, 5-fluorouracil, and docetaxel (TPF) as induction chemotherapy (ICT) in Japanese patients with hypopharyngeal cancer (HPC). MATERIALS AND METHODS: DNA repair gene polymorphisms (rs3212986, rs1799793, rs13181, and rs25487) were analyzed in 117 HPC patients and 125 control subjects by PCR-restriction fragment length polymorphism. Forty-one HPC patients who received TPF-based ICT, followed by surgery or chemoradiotherapy/radiotherapy were analyzed for ICT response, laryngeal preservation, and survival outcome. RESULTS: ICT responders (29 cases) had significantly better overall survival than ICT non-responders (12 cases; 86.0% vs. 37.0%, respectively, p<0.01 by log-rank test) and better laryngeal preservation rates. The DNA repair gene polymorphisms were not related to ICT response. CONCLUSION: ICT is beneficial for chemoselection of HPC patients, but a role for DNA repair gene polymorphisms in ICT response was not confirmed.


Assuntos
Reparo do DNA/genética , Neoplasias Hipofaríngeas/tratamento farmacológico , Quimioterapia de Indução/métodos , Polimorfismo Genético/genética , Polimorfismo de Nucleotídeo Único/genética , Feminino , Humanos , Neoplasias Hipofaríngeas/mortalidade , Masculino , Análise de Sobrevida
8.
Endocrine ; 68(3): 479-484, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32542429

RESUMO

With the emergence of the Novel Coronavirus (2019-nCoV), researchers worldwide have started detecting the probable pathogenesis of the disease. The renin-angiotensin system (RAS) and angiotensin-converting enzymes have received a good deal of attention as possible pathways involved in 2019-nCoV pathogenesis. As the experiments seeking to find potential medications acting on these pathways are being conducted in the early phases, having an ecological worldview on the relationship between the prevalence of COVID-19 disease and the genetic differences in the genes involved in the RAS system could be valuable for the field. In this regard, we conducted a meta-analysis study of the prevalence of ACE (I/D) genotype in countries most affected by the COVID-19. In the meta-analysis, 48,758 healthy subjects from 30 different countries were evaluated in 116 studies, using the Comprehensive Meta-analysis software. The I/D allele frequency ratio was pooled by a random-effect model. The COVID-19 prevalence data of death and recovery rates were evaluated as the latitudes for the meta-regression analysis. Our results demonstrated that with the increase of the I/D allele frequency ratio, the recovery rate significantly increased (point estimate: 0.48, CI 95%: 0.05-0.91, p = 0.027). However, there was no significant difference in the case of death rate (point estimate: 1.74, CI 95%: 4.5-1.04, p = 0.22). This ecological perspective coupled with many limitations does not provide a direct clinical relevance between the COVID-19 and RAS system, but it shows potential pathophysiological associations. Our results raise concerns about ethnic and genetic differences that could affect the effectiveness of the currently investigated RAS-associated medications in different regions.


Assuntos
Betacoronavirus , Infecções por Coronavirus/genética , Peptidil Dipeptidase A/genética , Pneumonia Viral/genética , Polimorfismo Genético/genética , Sistema Renina-Angiotensina/genética , Infecções por Coronavirus/epidemiologia , Frequência do Gene , Predisposição Genética para Doença , Humanos , Pandemias , Pneumonia Viral/epidemiologia
9.
Proc Natl Acad Sci U S A ; 117(21): 11636-11647, 2020 05 26.
Artigo em Inglês | MEDLINE | ID: mdl-32404419

RESUMO

Micropolymorphisms within human leukocyte antigen (HLA) class I molecules can change the architecture of the peptide-binding cleft, leading to differences in peptide presentation and T cell recognition. The impact of such HLA variation on natural killer (NK) cell recognition remains unclear. Given the differential association of HLA-B*57:01 and HLA-B*57:03 with the control of HIV, recognition of these HLA-B57 allomorphs by the killer cell immunoglobulin-like receptor (KIR) 3DL1 was compared. Despite differing by only two polymorphic residues, both buried within the peptide-binding cleft, HLA-B*57:01 more potently inhibited NK cell activation. Direct-binding studies showed KIR3DL1 to preferentially recognize HLA-B*57:01, particularly when presenting peptides with positively charged position (P)Ω-2 residues. In HLA-B*57:01, charged PΩ-2 residues were oriented toward the peptide-binding cleft and away from KIR3DL1. In HLA-B*57:03, the charged PΩ-2 residues protruded out from the cleft and directly impacted KIR3DL1 engagement. Accordingly, KIR3DL1 recognition of HLA class I ligands is modulated by both the peptide sequence and conformation, as determined by the HLA polymorphic framework, providing a rationale for understanding differences in clinical associations.


Assuntos
Antígenos de Histocompatibilidade Classe I/genética , Células Matadoras Naturais/fisiologia , Polimorfismo Genético/genética , Antígenos de Histocompatibilidade Classe I/química , Antígenos de Histocompatibilidade Classe I/fisiologia , Humanos , Ativação Linfocitária/genética , Modelos Moleculares , Polimorfismo Genético/fisiologia , Receptores KIR/genética
10.
Br J Anaesth ; 125(1): 77-86, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32466842

RESUMO

BACKGROUND: General anaesthetics interact with the pathophysiological mechanisms of traumatic brain injury (TBI). We used a Drosophila melanogaster (fruit fly) model to test the hypothesis that ageing and genetic background modulate the effect of anaesthetics and hyperoxia on TBI-induced mortality in the context of blunt trauma. METHODS: We exposed flies to isoflurane or sevoflurane under normoxic or hyperoxic conditions and TBI, and subsequently quantified the effect on mortality 24 h after injury. To determine the effect of age on anaesthetic-induced mortality, we analysed flies at 1-8 and 43-50 days old. To determine the effect of genetic background, we performed a genome-wide association study (GWAS) analysis on a collection of young inbred, fully sequenced lines. RESULTS: Exposure to anaesthetics and hyperoxia differentially affected mortality in young and old flies. Pre-exposure of young but not old flies to anaesthetics reduced mortality. Post-exposure selectively increased mortality. For old but not young flies, hyperoxia enhanced the effect on mortality of post-exposure to isoflurane but not to sevoflurane. Post-exposure to isoflurane in hyperoxia increased the mortality of young fly lines in the Drosophila Genetic Reference Panel collection to different extents. GWAS analysis of these data identified single nucleotide polymorphisms in genes involved in cell water regulation and oxygen sensing as being associated with the post-exposure effect on mortality. CONCLUSIONS: Ageing and genetic background influence the effects of volatile general anaesthetics and hyperoxia on mortality in the context of traumatic brain injury. Polymorphisms in specific genes are identified as potential causes of ageing and genetic effects.


Assuntos
Envelhecimento/fisiologia , Anestésicos Inalatórios/farmacologia , Lesões Encefálicas Traumáticas/fisiopatologia , Encéfalo/fisiopatologia , Drosophila melanogaster , Patrimônio Genético , Animais , Encéfalo/efeitos dos fármacos , Lesões Encefálicas Traumáticas/genética , Modelos Animais de Doenças , Estudo de Associação Genômica Ampla/métodos , Hiperóxia/fisiopatologia , Isoflurano/farmacologia , Polimorfismo Genético/genética , Sevoflurano/farmacologia , Ferimentos não Penetrantes/fisiopatologia
11.
Gene ; 752: 144786, 2020 Aug 20.
Artigo em Inglês | MEDLINE | ID: mdl-32439379

RESUMO

AIM: Ischemic stroke (IS) is multifactorial disease and therefore different genes and proteins play a role in its development. Haptoglobin (Hp) removes free hemoglobin and protects from iron-induced oxidative damage, inflammatory response, atherosclerosis and cerebrovascular diseases. The aim of this study was to investigate Hp genetic variants in patients with carotid atherosclerotic lesions and IS. MATERIAL AND METHODS: A total of 121 subjects with IS participated in the study, 81 male and 40 female. RESULTS: Among 121 patients with IS, 79 had diffuse atherosclerotic plaques and stenosis. Hp genotype was statistically significantly associated with CDFI neck carotid artery stenosis findings (p = 0.006). Patients with Hp1-2 genotype had statistically significantly larger odds for atherosclerotic changes compared to those with Hp1-1 genotype, as well as those with Hp2-2 genotype. CONCLUSION: This study has shown an association of the Hp2-2 genotype and atherosclerosis in patients with IS, indicating Hp2-2 genotype as a genetic biomarker for precision medicine and personalized healthcare.


Assuntos
Aterosclerose/genética , Isquemia Encefálica/genética , Haptoglobinas/genética , Estenose das Carótidas/genética , Feminino , Genótipo , Haptoglobinas/metabolismo , Humanos , Masculino , Pessoa de Meia-Idade , Placa Aterosclerótica/genética , Polimorfismo Genético/genética , Fatores de Risco , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/genética
12.
Biol Res ; 53(1): 21, 2020 May 14.
Artigo em Inglês | MEDLINE | ID: mdl-32410692

RESUMO

BACKGROUND: Liriodendron chinense ranges widely in subtropical China and northern Vietnam; however, it inhabits several small, isolated populations and is now an endangered species due to its limited seed production. The objective of this study was to develop a set of nuclear SSR (simple sequence repeats) and multiple chloroplast genome markers for genetic studies in L. chinense and their characterization in diverse germplasm. RESULTS: We performed low-coverage whole genome sequencing of the L. chinense from four genotypes, assembled the chloroplast genome and identified nuclear SSR loci by searching in contigs for SSR motifs. Comparative analysis of the four chloroplast genomes of L. chinense revealed 45 SNPs, 17 indels, 49 polymorphic SSR loci, and five small inversions. Most chloroplast intraspecific polymorphisms were located in the interspaces of single-copy regions. In total, 6147 SSR markers were isolated from low-coverage whole genome sequences. The most common SSR motifs were dinucleotide (70.09%), followed by trinucleotide motifs (23.10%). The motif AG/TC (33.51%) was the most abundant, followed by TC/AG (25.53%). A set of 13 SSR primer combinations were tested for amplification and their ability to detect polymorphisms in a set of 109 L. chinense individuals, representing distinct varieties or germplasm. The number of alleles per locus ranged from 8 to 28 with an average of 21 alleles. The expected heterozygosity (He) varied from 0.19 to 0.93 and the observed heterozygosity (Ho) ranged from 0.11 to 0.79. CONCLUSIONS: The genetic resources characterized and tested in this study provide a valuable tool to detect polymorphisms in L. chinense for future genetic studies and breeding programs.


Assuntos
Genoma de Cloroplastos/genética , Genoma de Planta/genética , Liriodendron/genética , Polimorfismo Genético/genética , Alelos , Primers do DNA/genética , DNA de Plantas/genética , Genótipo , Repetições de Microssatélites , Sequenciamento Completo do Genoma
13.
PLoS One ; 15(4): e0232282, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32352998

RESUMO

The magnitude and distribution of genetic diversity through space and time can provide useful information relating to evolutionary potential and conservation status in threatened species. In assessing genetic diversity in species that are of conservation concern, several studies have focused on the use of Toll-like receptors (TLRs). TLRs are innate immune genes related to pathogen resistance, and polymorphisms may reflect not only levels of functional diversity, but may also be used to assess genetic diversity within and among populations. Here, we combined four potentially adaptive markers (TLRs) with one mitochondrial (COI) marker to evaluate genetic variation in the endangered Sierra Madre Sparrow (Xenospiza baileyi). This species offers an ideal model to investigate population and evolutionary genetic processes that may be occurring in a habitat restricted endangered species with disjunct populations (Mexico City and Durango), the census sizes of which differ by an order of magnitude. TLRs diversity in the Sierra Madre Sparrow was relatively high, which was not expected given its two small, geographically isolated populations. Genetic diversity was different (but not significantly so) between the two populations, with less diversity seen in the smaller Durango population. Population genetic structure between populations was due to isolation and different selective forces acting on different TLRs; population structure was also evident in COI. Reduction of genetic diversity in COI was observed over 20 years in the Durango population, a result likely caused by habitat loss, a factor which may be the main cause of diversity decline generally. Our results provide information related to the ways in which adaptive variation can be altered by demographic changes due to human-mediated habitat alterations. Furthermore, our findings may help to guide conservation schemes for both populations and their restricted habitat.


Assuntos
Polimorfismo Genético/genética , Pardais/genética , Animais , Evolução Biológica , Conservação dos Recursos Naturais/métodos , Ecossistema , Espécies em Perigo de Extinção , Genética Populacional/métodos , Repetições de Microssatélites/genética , Filogenia
14.
Adv Clin Exp Med ; 29(5): 581-585, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32442362

RESUMO

BACKGROUND: Endometrial cancer is the most common malignant neoplasm of the female reproductive organs. A dysfunctional endometrial renin-angiotensin system (RAS) might contribute to the growth and spread of endometrial cancer. The RAS-related gene polymorphisms, including the polymorphism of insertion/deletion (I/D) in the angiotensin-converting enzyme (ACE) gene, influence RAS activity. OBJECTIVES: In the present study, we examined the association between the I/D polymorphism of the ACE gene and endometrial cancer risk in Polish women. MATERIAL AND METHODS: Genotype analysis of the ACE I/D polymorphism was carried out using polymerase chain reaction (PCR) on 142 endometrial cancer type 1 patients and 68 cancer-free subjects. The results of the analyses were correlated with clinical data. RESULTS: The frequency of DD, DI and II ACE genotypes did not vary significantly between the experimental group and the control group (40 (28%), 61 (43%) and 41 (29%) vs 18 (26%), 31 (46%), and 19 (28%), respectively; p = 0.935). In addition, the incidence of the DD, DI and II polymorphisms in the ACE gene did not vary significantly between the experimental subgroups when stratified by cancer grade - G1, G2 and G3 endometrioid carcinoma - and the control group. Furthermore, the ACE polymorphism was not significantly associated with hypertension, diabetes or lymph node metastasis. CONCLUSIONS: The ACE I/D gene polymorphism was not associated with endometrial cancer risk or the clinicopathological features in Polish women.


Assuntos
Neoplasias do Endométrio/genética , Peptidil Dipeptidase A/genética , Estudos de Casos e Controles , Neoplasias do Endométrio/etnologia , Neoplasias do Endométrio/patologia , Feminino , Genótipo , Humanos , Polônia , Reação em Cadeia da Polimerase , Polimorfismo Genético/genética , Sistema Renina-Angiotensina
15.
Int J Food Microbiol ; 325: 108647, 2020 Jul 16.
Artigo em Inglês | MEDLINE | ID: mdl-32361480

RESUMO

Yeasts are one of the main organisms in the food industry and effective components of many ecosystems. The method for identifying and detecting certain yeast species or strains is a crucial step for the food industry and should be simple, reliable, fast, and inexpensive. In our study, inter-priming binding sites (iPBS) retrotransposon marker system was employed to elucidate the genetic variability at intraspecies and interspecies levels among 112 yeast strains belonging to eight species previously obtained from fermented foods. The molecular identification of yeast strains was firstly confirmed by sequencing the D1/D2 domain of the 26S rRNA. The eight selected retrotransposon-based primers produced 278 bands, all of which were polymorphic with an average of 34.75 polymorphic fragments per primer. The averages of polymorphism information contents and the resolving power values for the iPBS marker system were 0.23 and 10.11, respectively. The genetic parameters within each yeast species obtained from iPBS markers were observed as; the percentage of polymorphic loci for each species ranging from 19.23% to 71.21%, Nei's gene diversity from 0.085 to 0.228, while Shannon's information index values ranging from 0.125 to 0.349. The value of gene flow (0.09) and genetic variation among the populations (0.85) showed higher genetic variation among the species. UPGMA analyses demonstrated considerable genetic variability in the yeast strains, clustered them according to their species, and revealed the intraspecific variation. Each of the selected iPBS primer provided enough species-discrimination. Present evaluations suggest the utility of iPBS marker system to estimate the genetic variation of yeast strains. This study is a preliminary point for further studies on the identification methodology, and population genetics of yeast species having importance in the food industry with iPBS markers.


Assuntos
Retroelementos/genética , Saccharomycetales/genética , Fermento Seco/genética , Sítios de Ligação , Primers do DNA/genética , Ecossistema , Variação Genética/genética , Filogenia , Polimorfismo Genético/genética , Saccharomycetales/classificação
17.
Nutr. hosp ; 37(2): 293-298, mar.-abr. 2020. tab
Artigo em Espanhol | IBECS | ID: ibc-190593

RESUMO

INTRODUCCIÓN: el SNP 3'UTR C/T (rs10401670) del gen RETN es un polimorfismo que se ha asociado con la presencia de diabetes mellitus de tipo 2 en un único trabajo en la literatura. OBJETIVO: el objetivo de diseñar este estudio fue evaluar la influencia del SNP rs10401670 del gen de la resistina sobre los niveles séricos de resistina, así como sobre la presencia de diabetes mellitus de tipo 2 en sujetos con obesidad y la resistencia a la insulina. MATERIAL Y MÉTODOS: se analizó una población caucásica de 653 sujetos adultos con obesidad. A todos se les realizó una evaluación antropométrica (peso, circunferencia cintura, masa grasa), una evaluación de la ingesta nutricional y un análisis bioquímico (glucosa, insulina, proteína C-reactiva, perfil lipídico, insulina, HOMA-IR). La evaluación del genotipo rs10401670 se determinó en presencia de diabetes mellitus de tipo 2 (DM2). Se realizó un análisis univariante y posteriormente un análisis de regresión logística con la variable dependiente dicotómica "DM2 = Sí/No" (SPSS, 17.0, IL EUA). RESULTADOS: la distribución del genotipo fue la siguiente: CC, 212 (32,4 %); CT, 340 (52,0 %), y TT, 101 (15,6 %). No se hallaron diferencias significativas entre ambos genotipos en cuanto a perfil lipídico, glucosa basal, proteína C-reactiva, parámetros antropométricos, ingesta nutricional y tensión arterial, pero sí en los niveles de resistina (delta: 1,0 ± 0,2 ng/ml; p = 0,02), insulina (delta: 1,3 ± 0,1 ng/ml; p = 0,02) y HOMA-IR (delta: 1,2 ± 0,2 ng/ml; p = 0,01), que fueron superiores en los pacientes portadores del alelo mutado T. La prevalencia global de la diabetes mellitus de tipo 2 (DM2) en la muestra fue del 21,8 %. Con respecto al SNP rs10401670, entre los sujetos con CC un 17,9 % tenían DM2 y entre los portadores del alelo T, el 23,8 % tenían DM2. En el análisis de regresión logística, al analizar el efecto del alelo T ajustado según la edad, el sexo, los niveles de resistina circulante y el peso corporal, continuó mostrándose como variable independiente la presencia del alelo T del SNP rs10401670 sobre la presencia de DM2: OR: 2,27 (IC 95 %: 1,26-4,09). CONCLUSIONES: el alelo T de la variante genética rs10401670 se asocia con mayores niveles de resistina, insulina basal, resistencia a la insulina y prevalencia de la diabetes mellitus de tipo 2 en los sujetos obesos


BACKGROUND: the SNP 3'UTR C/T (rs10401670) of the RETN gene is a polymorphism that has been associated with the presence of type-2 diabetes mellitus in a single work in the literature. OBJECTIVE: the objective of our study was to evaluate the influence of this resistin gene SNP (rs10401670) on the serum levels of resistin, as well as on the presence of type-2 diabetes mellitus in obese subjects and on insulin resistance. MATERIAL AND METHODS: a Caucasian population of 653 obese subjects was analyzed. All subjects underwent an anthropometric evaluation (weight, waist circumference, fat mass), an evaluation of their nutritional intake, a biochemical profile (glucose, insulin, C-reactive protein, lipid profile, insulin, HOMA-IR), and an assessment of the rs10401670 genotype. Determinations were made in the presence of type-2 diabetes mellitus (DM2). A univariate analysis was carried out and a logistic regression was performed with a dichotomy parameter (DM2: yes/no) (SPSS, 17.0, IL, EUA). RESULTS: genotype distribution was as follows: CC, 212 subjects (32.4 %); CT, 340 subjects (52.0 %); and TT, 101 subjects (15.6 %). There were no significant differences between both genotypes in lipid profile, basal glucose, C-reactive protein, anthropometric parameters, nutritional intake, and blood pressure levels. Serum resistin levels (delta: 1.0 ± 0.2 ng/mL; p = 0.02), insulin levels (delta: 1.3 ± 0.1 ng/mL; p = 0.02), and HOMA-IR (delta: 1.2 ± 0.2 ng/mL; p = 0.01) were higher in T-allele carriers than non-T-allele carriers. The overall prevalence of type-2 diabetes mellitus (DM2) in the sample was 21.8 %. With respect to the rs10401670 polymorphism, 17.9 % of subjects with the CC genotype had DM2, and 23.8 % of T-allele carriers had DM2. In the logistic regression analysis the T-allele of the SNP rs10401670, adjusted by age, sex, resistin levels, and body weight showed an association with DM2 -OR: 2.27 (95 % CI: 1.26-4.09). CONCLUSIONS: the T-allele of the rs10401670 genetic variant is associated with higher levels of resistin, basal insulin, and insulin resistance, and a higher prevalence of type-2 diabetes mellitus, in obese subjects


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Resistina/genética , Resistência à Insulina , Diabetes Mellitus Tipo 2/epidemiologia , Obesidade/complicações , Resistina/sangue , Antropometria , Razão Cintura-Estatura , Avaliação Nutricional , Modelos Logísticos , Polimorfismo Genético/genética , Índice de Massa Corporal , Inquéritos Nutricionais
18.
Toxicol Appl Pharmacol ; 396: 115000, 2020 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-32275916

RESUMO

The pharmacokinetics of Tacrolimus is characterized by a high interindividual variability that is mainly explained by pharmacogenetics biomarkers. The aims were to develop a population pharmacokinetic model (Pk pop) taking into account post-transplant phases (PTP), CYP3A4*1B, CYP3A4*22 and CYP3A5*3 polymorphisms on Tac pharmacokinetics in adult kidney transplant patients. The Pk pop study was performed using a nonparametric approach (Pmetrics*). The influence of covariates (age, weight, sex, hematocrit and CYP3A4*1B, CYP3A4*22 and CYP3A5*3 polymorphisms) was tested on the model's Pk parameters. The performance of the final model was assessed using an external dataset. A one-compartment model (Vd: volume of distribution, CL: Tac Clearance) was found to correctly describe the evolution of the C0/D regardless of the PTP. The influence of the covariates has shown that only the CYP3A4*1B and CYP3A4*22 polymorphisms were significantly associated only with CL, regardless of PTP (p = .04 and 0.02, respectively). Only the CYP3A4*22 polymorphism influenced CL during early PTP (P1: the first three months, p = .02). During the late PTP (P2: >3 months), only CYP3A4 polymorphisms were found to affect CL (p = .03 for both). The external validation of the final model, including both CYP3A4 polymorphisms, showed an acceptable predictive performance during P1 and P2. We developed and validated a tac Pk pop model including both CYP3A4*22 and CYP3A4*1B polymorphisms, taking into account PTP. This model was very useful in the Tac dose proposal in this population on any PT day but could not be used in other organ transplants due to pharmacokinetic differences.


Assuntos
Citocromo P-450 CYP3A/genética , Imunossupressores/farmacocinética , Transplante de Rim , Tacrolimo/farmacocinética , Adulto , Estudos Transversais , Citocromo P-450 CYP3A/metabolismo , Feminino , Técnicas de Genotipagem , Humanos , Masculino , Taxa de Depuração Metabólica/genética , Pessoa de Meia-Idade , Testes Farmacogenômicos , Polimorfismo Genético/genética , Tunísia , Adulto Jovem
19.
Crit Rev Oncol Hematol ; 149: 102939, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32259776

RESUMO

A substantial proportion of cancer patients experience chemotherapy-induced nausea and vomiting (CINV) despite the use of antiemetic drugs. Prevalent genetic polymorphisms involved in antiemetic drug metabolism, drug transport and receptor pathways likely affect the effectiveness of antiemetics. Knowledge on which polymorphisms to integrate into individualised clinical care is needed. We did a systematic review evaluating the association between polymorphisms and effectiveness of antiemetics in cancer patients receiving moderately to highly emetogenic chemotherapy. Twenty studies n = 2331 evaluated eight polymorphisms in five candidate genes involved in 5-HT3 antagonist pathways. HTR3C C1214G increased the risk of acute chemotherapy-induced vomiting in the dominant model (odds ratio (OR) = 2.67, 95 % confidence interval (CI): 1.08-6.63). ABCB1 C3435T reduced the risk of acute CINV in the recessive model (OR = 0.60, 95 % CI: 0.44-0.81). Future studies should evaluate candidate genes that affect pharmacogenetics of other antiemetics beside 5-HT3 antagonists.


Assuntos
Antieméticos/uso terapêutico , Antineoplásicos/efeitos adversos , Sistema Enzimático do Citocromo P-450 , Náusea/prevenção & controle , Neoplasias/tratamento farmacológico , Farmacogenética , Receptores 5-HT3 de Serotonina , Antagonistas do Receptor 5-HT3 de Serotonina/uso terapêutico , Vômito/prevenção & controle , Antineoplásicos/uso terapêutico , Sistema Enzimático do Citocromo P-450/efeitos dos fármacos , Sistema Enzimático do Citocromo P-450/genética , Humanos , Náusea/induzido quimicamente , Náusea/genética , Polimorfismo Genético/genética , Receptores 5-HT3 de Serotonina/efeitos dos fármacos , Receptores 5-HT3 de Serotonina/genética , Vômito/induzido quimicamente , Vômito/genética
20.
Urol Clin North Am ; 47(2): 257-270, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32272997

RESUMO

The male contribution to infertility has traditionally been overlooked, or at best oversimplified. In recent years efforts have been made to optimize diagnostic and therapeutic techniques to maximize fertility outcomes. A renewed focus on the male partner has resulted in an increased understanding of both genetic and epigenetic changes within the male germline. Furthermore, single-nucleotide polymorphisms, copy-number variants, DNA damage, sperm cryopreservation, obesity, and paternal age have recently been recognized as important factors that play a role in male fertility. Developing a deeper knowledge of these issues could potentially lead to improved success with assisted reproductive technology.


Assuntos
Epigênese Genética/genética , Fertilização In Vitro/tendências , Infertilidade Masculina/genética , Infertilidade Masculina/terapia , Obesidade/genética , Herança Paterna/genética , Fatores Etários , Criopreservação , Dano ao DNA/genética , Feminino , Fertilização In Vitro/efeitos adversos , Fertilização In Vitro/métodos , Previsões , Humanos , Infertilidade Masculina/etiologia , Masculino , Mutação , Obesidade/complicações , Polimorfismo Genético/genética , Técnicas de Reprodução Assistida/efeitos adversos , Técnicas de Reprodução Assistida/tendências
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