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1.
Medicine (Baltimore) ; 99(41): e22169, 2020 Oct 09.
Artigo em Inglês | MEDLINE | ID: mdl-33031260

RESUMO

Previous studies on the association between serotonin transporter linked polymorphic region (5-HTTLPR) polymorphism and premature ejaculation (PE) have led to inconsistent results. The purpose of the present meta-analysis was to examine whether 5-HTTLPR polymorphism is associated with PE susceptibility.All eligible studies were searched and acquired from PubMed, Embase, Science Direct, CNKI, and Wanfang databases according to inclusion and exclusion criteria. Odds ratios (ORs) with 95% confidence intervals (CIs) were computed to assess the strength of the association between 5-HTTLPR polymorphism and PE. In addition, heterogeneity test, publication bias and sensitivity analysis were also conducted.Firstly, the association were observed in 8 studies (L vs S: OR = 0.74, 95% CI = 0.63-0.87; LL vs SS: OR = 0.61, 95% CI = 0.44-0.83; SL vs SS: OR = 0.73, 95% CI = 0.55-0.96; LL + SL vs SS: OR = 0.67, 95% CI = 0.52-0.86; LL vs SL + SS: OR = 0.72, 95% CI = 0.55-0.92). When the 2 studies not in Hardy-Weinberg equilibrium (HWE) were omitted, a positive association could only be observed between the 5-HTTLPR polymorphism and PE in allele contrast model (L vs S: OR = 0.81, 95% CI = 0.67-0.98). In the stratified analysis by subgroup, significantly associations were also found between PE and 5-HTTLPR polymorphism in Caucasians but not Asians (L vs S: OR = 0.79, 95% CI = 0.63-0.98; LL + SL vs SS: OR = 0.67, 95% CI = 0.46-0.96).Our meta-analysis demonstrated that the 5-HTTLPR polymorphism was associated with the susceptibility to PE in the Caucasian population. Compared with S allele, L allele is likely to be less susceptible to PE.


Assuntos
Ejaculação Precoce/genética , Proteínas da Membrana Plasmática de Transporte de Serotonina/genética , Estudos de Casos e Controles , Humanos , Masculino , Polimorfismo Genético
2.
Proc Biol Sci ; 287(1931): 20200975, 2020 07 29.
Artigo em Inglês | MEDLINE | ID: mdl-33043864

RESUMO

Alternative mating strategies are widespread among animal taxa, with strategies controlled by a genetic polymorphism (Mendelian strategy) being rarer in nature than condition-dependent developmental strategies. Mendelian strategies are predicted to have equal average fitnesses and the proportion of offspring produced by a strategy should equal the equilibrium proportion of individuals representing the strategy in a population. Developmental strategies are not expected to produce offspring in equilibrium proportions; however, whether the alternative phenotypes should have equal average fitness is debated. The Wellington tree weta (Hemideina crassidens) (Orthoptera: Anostostomatidae) is a harem polygynous insect in which intense sexual competition has favoured the evolution of three alternative mating strategies that differ in weapon size and the ability to fight for control of harems. Here, we use molecular genotyping to test the hypothesis that the alternative strategies in this species are maintained by having equal relative fitness and that morphs produce offspring in equilibrium proportions. As expected, the average relative fitness of the three strategies did not significantly differ and the proportion of offspring produced by each morph is equal to the frequency of that morph in the population. Our results support the hypothesis that the alternative male morphs in H. crassidens represent Mendelian strategies.


Assuntos
Insetos/fisiologia , Comportamento Sexual Animal , Animais , Feminino , Masculino , Ortópteros , Fenótipo , Polimorfismo Genético , Seleção Genética
3.
Zootaxa ; 4838(4): zootaxa.4838.4.5, 2020 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-33056804

RESUMO

The species Melanotettix dibelonius Bruner, 1904 was previously recorded from Michoacán and Guerrero states in Mexico. This species is characterized by its tegmina, which are always shorter than head and pronotum together and sometimes shorter than the pronotum. After recent field expeditions (2015-2019) and an extensive review of museum specimens from the most important Orthoptera collections in Mexico and USA (291 specimens), we discovered a long-winged form of this species south of its previous known range, which effectively expanded its distribution range into Oaxaca state. We discuss some aspects regarding the patterns of geographic distribution and morphological variation among the long-winged and short-winged morphs. We conduct statistical analyses and observed that on average, the tegmina of long-winged individuals (both females and males) are slightly longer than twice the length of pronotum; whereas in short-winged individuals the tegmina are nearly as long or slightly longer than the length of the pronotum. Moreover, on average, females appear to have longer tegmina than males in both morphotypes. We provide photographic records of both forms live and mounted, the most comprehensive distribution map to date and a discussion of evolutionarily interesting patterns found in this species.


Assuntos
Gafanhotos , Animais , Meio Ambiente , Feminino , Masculino , México , Polimorfismo Genético
4.
Zhongguo Zhong Yao Za Zhi ; 45(15): 3659-3665, 2020 Aug.
Artigo em Chinês | MEDLINE | ID: mdl-32893555

RESUMO

As a traditional Chinese medicinal material, Chrysosplenium is urgently needed for genetic resource investigation and protection research due to the decrease of its wild resources in recent years. After investigating the wild resources, we conducted genetic polymorphism and clustering studies of 24 species(a total of 36 samples) of Chrysosplenium using SRAP technique. The results showed that a total of 374 polymorphic bands were obtained using 18 pairs of SRAP primers to amplify these samples, on average of 20.7 bands for each primer pair. We used the biological software to analyze the population's genetic parameter and got the N_a value as 2.000 0, N_(e )value as 1.408 4, the average Nei's index as 0.263 5, and the average Shannon information index as 0.419 1. UPGMA cluster analysis showed that all the samples can be divided into three major groups at the genetic similarity coefficient of 0.70: there are 18 species(24 samples) gathered for the Ⅰ groups, 3 species or variation(7 samples) for Ⅱ groups, and 3 species(5 samples) for Ⅲ groups. The differences of these Chrysosplenium species at the molecular level are consistent with that of their geographical and ecological distribution. At the same time, we used SRAP technology to construct 36 DNA digital fingerprints of Chrysosplenium and obtained the unique molecular identification band type of each material. These results will provide effective methods and reliable basis for the identification, protection and genetic diversity analysis of the germplasm resources of Chrysosplenium, and lay a foundation for the further development and utilization of them.


Assuntos
Impressões Digitais de DNA , Variação Genética , Análise por Conglomerados , Marcadores Genéticos , Filogenia , Polimorfismo Genético
6.
Adv Exp Med Biol ; 1268: 53-114, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32918214

RESUMO

Increasing scientific evidence supports the link between vitamin D and cancer risk. The active metabolite 1,25(OH)2D exerts its activity by binding to the vitamin D receptor (VDR), an intracellular receptor that mediates transcriptional activation and repression of target genes. The binding of 1,25(OH)2D to VDR is able to regulate hundreds of different genes. VDR is active in virtually all tissues including the colon, breast, lung, ovary, bone, kidney, parathyroid gland, pancreatic b-cells, monocytes, T lymphocytes, melanocytes, keratinocytes, and also cancer cells.The relevance of VDR gene restriction fragment length polymorphisms for various types of cancer has been investigated by a great number of studies.We have carried out a systematic review of the literature to analyze the relevance of more VDR polymorphisms (Fok1, Bsm1, Taq1, Apa1, and Cdx2) for individual malignancies considering ethnicity as a key factor for heterogeneity.Up to December 2018, we identified 176 independent studies with data to assess the risk of breast, prostate, colorectal, skin (melanoma and non-melanoma skin cancer), lung, ovarian, kidney, bladder, gallbladder, esophageal, thyroid, head and neck, liver and pancreatic cancer, oral squamous cell carcinoma, non-Hodgkin lymphoma, multiple myeloma and sarcoma.Significant associations with VDR polymorphisms have been reported for prostate (Fok1, Bsm1, Taq1, Apa1, Cdx2), breast (Fok1, Bsm1, Taq1, Apa1, CdX2), colorectal (Fok1, Bsm1, Taq1, Apa1), and skin cancer (Fok1, Bsm1, Taq1). Very few studies reported risk estimates for the other cancer sites.Conflicting data have been reported for most malignancies, and at present, it is still not possible to make any definitive statements about the importance of the VDR genotype for cancer risk. It seems probable that other factors such as ethnicity, phenotype, 25(OH)D plasma levels, and UV radiation exposure play a role as confounding factors and introduce heterogeneity.To conclude, there is some indication that VDR polymorphisms may modulate the risk of some cancer sites and in future studies VDR genetic variation should be integrated also with assessment of vitamin D status and stratified by ethnicity.


Assuntos
Neoplasias/genética , Polimorfismo Genético , Receptores de Calcitriol/genética , Humanos , Neoplasias/sangue , Vitamina D/sangue
7.
Urologiia ; (4): 84-89, 2020 Sep.
Artigo em Russo | MEDLINE | ID: mdl-32897019

RESUMO

Genetic factors cause various forms of male infertility in 30-50% of cases. The role of oxidative stress in male infertility has been broadly recognised, and the search for a new marker to determine the redox environment in semen has gained considerable interest. AIM: to establish the association of two polymorphic loci Ile105Val, Ala114Val of the GSTP1 gene (glutathione transferase class pi-1) with the parameters of oxidative stress in men with infertility. MATERIALS AND METHODS: the main study group consisted of 160 men of reproductive age with infertility (mean age - 29,9+/-5,3 years). The control group included 104 practically healthy men with realized reproductive function (average age - 30,2+/-3,6 years). Molecular and genetic study of polymorphisms of the GSTP1 gene was performed by using real-time PCR. The material for the study was DNA samples, the extraction of which was carried out from samples of whole venous blood. The components of lipid peroxidation and antioxidant protection were determined in the blood and ejaculate using spectrophotofluorometric METHOD: s. Resalts: While analyzing the frequency of occurrence of the Ile105Val polymorphism of the GSTP1 gene in men with infertility and fertile men, statistically significant differences were found at (2=7,487; p=0,024). No significant differences were found between the groups (2=3,823; p=0,14), when were compared the frequency distribution of the genotypes of the Ala114Val polymorphism of the GSTP1 gene in men diagnosed with infertility and fertile patients. In men with infertility, carriers of the GSTP1(Ile105Val) heterozygous polymorphism, associations of the studied gene were established with an increase in GSH activity by 7% and a decrease in GR by 20% in blood and a decrease in SOD activity by 8% in the ejaculate, in contrast, fertile men, carriers of heterozygous polymorphism GSTP1(Ile105Val), which have associations with an increase in total AOA blood by 20% and with a decrease in GPO activity by 24% in the ejaculate. In men with infertility, carriers of the heterozygous polymorphism of GSTP1(Ala114Val), associations of the studied gene were established with a decrease in -tocopherol concentration by 15%, an increase in GPO activity by 25% in blood and a decrease in SOD activity by 7% in ejaculate, in contrast, fertile men, carriers of heterozygous polymorphism GSTP1(l114Val), which have associations with an increase in the concentration of DK in blood by 19% and with a decrease in GST activity by 32% in the ejaculate. CONCLUSION: identification of carriers of polymorphic loci Ile105Val, Ala114Val GSTP1, as well as determination of enzymes of the thiol disulfide system can be recommended for additional assessment of the risk of reproductive disorders in men.


Assuntos
Glutationa S-Transferase pi/genética , Glutationa Transferase/genética , Infertilidade Masculina , Adulto , Estudos de Casos e Controles , Predisposição Genética para Doença , Genótipo , Humanos , Infertilidade Masculina/genética , Masculino , Estresse Oxidativo , Polimorfismo Genético , Adulto Jovem
8.
Medicine (Baltimore) ; 99(38): e22278, 2020 Sep 18.
Artigo em Inglês | MEDLINE | ID: mdl-32957381

RESUMO

BACKGROUND: Diabetic nephropathy (DN) is a multifactorial disease with gene-environment interaction resulting in progressive renal function damage. Multiple studies have assessed the association between matrix metalloproteinase-9 (MMP-9) gene promoter polymorphism and DN susceptibility. However, the results are inconclusive. In the present study, we will conduct a meta-analysis to further examine this relationship more precisely. METHODS: Electronic databases (Pubmed, Web of Science, Embase, Google Scholar, Wanfang, China Biological Medicine and China National Knowledge Infrastructure) will be used to search clinical case-control studies about MMP-9 polymorphism and DN published until 18 August 2020. The language will be restricted to Chinese and English. Two reviewers will take charge of completing the selection of study, the extraction of data as well as the assessment of study quality independently. The Newcastle-Ottawa Scale will be used to evaluate the study quality. We will evaluate the association under 5 genetic models. Fixed-effects or random-effects models will be used to calculate the effect sizes of odds ratio and 95% confidence intervals. Afterwards, subgroup analysis will be conducted in terms of the ethnicity and genotyping method. Additionally, sensitivity analysis will be performed via sequentially omitting each of the included studies one at a time. The funnel plots, Egger regression test, and Begg rank correlation test will be used to test the potential publication bias. All the statistical analyses will be performed using Review Manager 5.3 and Stata 12.0. RESULTS: This protocol reported according to the Preferred Reporting ltems for Systematic Reviews and Meta-Analyses Protocols (PRISMA-P) statement. This study will provide a better understanding of the association between MMP-9 polymorphisms and DN risk. CONCLUSION: Publishing this protocol will minimize the potential bias related to data mining, thus contributing to generation of reliable evidence. OSF REGISTRATION NUMBER: DOI 10.17605/OSF.IO/H5FS4.


Assuntos
Nefropatias Diabéticas/genética , Metaloproteinase 9 da Matriz/genética , Metanálise como Assunto , Polimorfismo Genético , Revisões Sistemáticas como Assunto , Nefropatias Diabéticas/enzimologia , Predisposição Genética para Doença , Humanos , Regiões Promotoras Genéticas/genética , Fatores de Risco
9.
Genes (Basel) ; 11(9)2020 09 03.
Artigo em Inglês | MEDLINE | ID: mdl-32899439

RESUMO

The importance of host genetics and demography in coronavirus disease 2019 (COVID-19) is a crucial aspect of infection, prognosis and associated case fatality rate. Individual genetic landscapes can contribute to understand Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) burden and can give information on how to fight virus spreading and the associated severe acute respiratory distress syndrome (ARDS). The spread and pathogenicity of the virus have become pandemic on specific geographic areas and ethnicities. Interestingly, SARS-CoV-2 firstly emerged in East Asia and next in Europe, where it has caused higher morbidity and mortality. This is a peculiar feature of SARS-CoV-2, different from past global viral infections (i.e., SARS-1 or MERS); it shares with the previous pandemics strong age- and sex-dependent gaps in the disease outcome. The observation that the severest COVID-19 patients are more likely to have a history of hypertension, diabetes and/or cardiovascular disease and receive Renin-Angiotensin-System (RAS) inhibitor treatment raised the hypothesis that RAS-unbalancing may have a crucial role. Accordingly, we recently published a genetic hypothesis on the role of RAS-pathway genes (ACE1, rs4646994, rs1799752, rs4340, rs13447447; and ACE2, rs2285666, rs1978124, rs714205) and ABO-locus (rs495828, rs8176746) in COVID-19 prognosis, suspecting inherited genetic predispositions to be predictive of COVID-19 severity. In addition, recently, Genome-Wide Association Studies (GWAS) found COVID-19-association signals at locus 3p21.31 (rs11385942) comprising the solute carrier SLC6A20 (Na+ and Cl- coupled transporter family) and at locus 9q34.2 (rs657152) coincident with ABO-blood group (rs8176747, rs41302905, rs8176719), and interestingly, both loci are associated to RAS-pathway. Finally, ACE1 and ACE2 haplotypes seem to provide plausible explanations for why SARS-CoV-2 have affected more heavily some ethnic groups, namely people with European ancestry, than Asians.


Assuntos
Infecções por Coronavirus/patologia , Pneumonia Viral/patologia , Sistema Renina-Angiotensina/genética , Sistema ABO de Grupos Sanguíneos/genética , Betacoronavirus/isolamento & purificação , Infecções por Coronavirus/virologia , Haplótipos , Humanos , Proteínas de Membrana Transportadoras/genética , Pandemias , Peptidil Dipeptidase A/genética , Peptidil Dipeptidase A/metabolismo , Pneumonia Viral/virologia , Polimorfismo Genético , Prognóstico , Caracteres Sexuais
10.
Adv Clin Exp Med ; 29(9): 1057-1063, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32926601

RESUMO

BACKGROUND: Diabetes mellitus (DM) has become more and more common and has a high morbidity and mortality rate worldwide. It is a multifactorial chronic disease affected by both genetic and environmental factors. OBJECTIVES: To evaluate the association between antioxidant enzyme activities and their genetic variations and the level of malondialdehyde (MDA) in type II diabetes patients living in the Adiyaman province in the southeast part of Turkey. MATERIAL AND METHODS: One hundred patients diagnosed with type II DM (T2DM) and 100 healthy controls were included in the study. Malondialdehyde levels and antioxidant enzyme activities were measured spectrophometrically. DNA isolation was performed and genotyping was carried out using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). RESULTS: Our results revealed no significant differences in genotype distributions and allele frequencies of all polymorphisms between groups (p > 0.05). Significantly elevated MDA levels and a significant reduction in catalase (CAT) and paraoxonase (PON) enzyme activities were observed in patients compared to the control group in terms of study groups and genetic variations (p < 0.05). Moreover, CAT activity was reduced in TT genotype in terms of CAT -262 C/T polymorphism in patients (p < 0.05). Paraoxonase activity was observed to be lower in MM genotype in both groups (p < 0.05). CONCLUSIONS: CAT -262 C/T polymorphism may be one of the factors that lead to severe clinical situation in DM. Our results suggest that TT genotype may be more prone to lipid peroxidation.


Assuntos
Diabetes Mellitus Tipo 2 , Polimorfismo Genético , Estudos de Casos e Controles , Diabetes Mellitus Tipo 2/genética , Frequência do Gene , Genótipo , Humanos , Turquia
11.
Int J Paediatr Dent ; 30(5): 642-649, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32902920

RESUMO

BACKGROUND & AIM: To investigate the association between the genetic polymorphisms FokI (rs2228570) and BglI (rs739837) in vitamin D receptor (VDR) with dental caries and gingivitis susceptibility. DESIGN: This study included 353 Brazilian children (8 to 11 years old). Dental caries was assessed using ICDAS (International System for Detection and Assessment of Carious Lesions) and gingival bleeding using Community Periodontal Index (CPI). The presence of visible biofilm was also evaluated. DNA was extracted from saliva, and real-time PCR was used to evaluate genetic polymorphisms in VDR: rs2228570 (FokI, A>G/Met>Thr) and rs739837 (BglI, G>T). Dental caries was evaluated as a continuous data (mean and standard deviation-SD) and was also categorized (ICDAS0 versus ICDAS1-6 or ICDAS1-2 versus ICDAS3-6). Gingivitis was categorized in with and without. One-way ANOVA was used for comparisons of caries among genotypes. Chi-square test, logistic regression, and haplotype analysis were performed (P < .05). RESULTS: Biofilm was associated with dental caries susceptibility and gingivitis (P < .05). The mean distribution of the caries lesions and cavitated caries lesions among FokI and BgII genotypes were not statistically significant (P > .05). Genotype distributions among caries groups (in the two different cut-offs) and among gingivitis and non-gingivitis groups were not statistically significant (P > .05). CONCLUSION: The polymorphisms FokI and BglI in VDR were not associated with dental caries or gingivitis.


Assuntos
Cárie Dentária , Gengivite , Brasil , Criança , Predisposição Genética para Doença , Genótipo , Humanos , Polimorfismo Genético , Receptores de Calcitriol/genética
12.
Medicine (Baltimore) ; 99(36): e21918, 2020 Sep 04.
Artigo em Inglês | MEDLINE | ID: mdl-32899025

RESUMO

Schizophrenia (SCZ) is a chronic disability disorder related to oxidative stress. Glutathione S-transferase (GST) is a group enzyme that protects cells and tissues from oxidative stress damage. Among GSTs, GSTT1 and GSTM1 have well defined genetic polymorphisms. The purpose of our research was to explore the correlation between GSTT1 and GSTM1 polymorphism and SCZ risk in Chinese Han population.A total of 650 subjects (386 SCZ patients and 264 healthy individuals) were included in this case-control designed study. The GSTT1 and GSTM1 polymorphisms were analyzed by multiplex polymerase chain reaction (PCR). We explored the relationship between these 2 polymorphisms and the risk of SCZ.We found that the GSTT1 null genotype had a protective effect on the development of SCZ [odds ratio (OR) = 0.601, 95% confidence interval (95% CI) = 0.412-0.986, P = .031]. We also found that the combination of null genotypes of the GSTT1 and GSTM1 genes was made at a lower risk of SCZ (OR = 0.452, 95% CI = 0.238-0.845, P = .028). However, we found no correction between Positive and Negative Syndrome Scale score (PANSS) and GSTM1, GSST1 genotypes in SCZ patients.Our finding revealed that GSTT1 null polymorphisms may be related to the reduced risk of SCZ in Chinese Han population, and this risk was further reduced with the combination of GSTT1 null polymorphisms and GSTM1 null polymorphisms.


Assuntos
Glutationa Transferase/genética , Esquizofrenia/genética , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo Genético , Fatores de Risco
13.
Zhonghua Liu Xing Bing Xue Za Zhi ; 41(7): 1097-1102, 2020 Jul 10.
Artigo em Chinês | MEDLINE | ID: mdl-32741178

RESUMO

Objective: The aim of this study is to investigate the relationship between fat mass and obesity associated (FTO) gene polymorphism and the risk of gestational diabetes mellitus (GDM), and provide clues and basis for the study of GDM mechanism. Methods: The case group of GDM pregnant women who delivered at the First Affiliated Hospital of Shanxi Medical University from March 1, 2012 to July 30, 2014 were selected, and matched the control group among non-GDM pregnant women by age, gestational age and residential address, and 324 cases and 318 controls were finally included. DNA was extracted and genotyped, and min P test and unconditional logistic regression model were used to estimate the relationship between FTO gene polymorphism and GDM. Results: At gene level, we did not find the association between FTO and the risk of GDM (P>0.05). After adjusted for family history of diabetes, pre-pregnancy body mass index and multiple comparisons using false discovery rate method, unconditional logistic regression analysis showed that pregnant women who carried the rs11075995 TT genotype (OR=0.59, 95%CI: 0.35-0.89), rs3826169 GG genotype (OR=0.59, 95%CI: 0.35-0.88), and rs74245270 GA genotype (OR=0.69, 95%CI: 0.49-0.98), GA or AA genotype(OR=0.70, 95%CI: 0.50-0.97) had reduced risk of GDM. However, pregnant women who carried the rs74018601 GA genotype (OR=1.51, 95%CI: 1.07-2.12), GA or AA genotype (OR=1.46, 95%CI: 1.06-2.02), rs7205009 AA genotype (OR=1.83, 95%CI: 1.18-2.86), GA or AA genotype (OR=1.53, 95%CI: 1.08-2.19), and rs9888758 AG genotype (OR=1.43, 95%CI: 1.02-2.00) had elevated risk of GDM. Conclusion: The polymorphisms of FTO gene rs11075995,rs3826169, rs74245270, rs74018601, rs7205009 and rs9888758 were associated with the risk of GDM.


Assuntos
Tecido Adiposo , Diabetes Gestacional/epidemiologia , Obesidade/genética , Polimorfismo Genético , Estudos de Casos e Controles , China/epidemiologia , Feminino , Genótipo , Humanos , Gravidez , Fatores de Risco
15.
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
16.
Wiad Lek ; 73(7): 1505-1509, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32759446

RESUMO

OBJECTIVE: The aim:of the study is to determine the frequency of polymorphism of estrogen receptor gene ESR1 (T-397C variant) in patients with premenstrual syndrome. PATIENTS AND METHODS: Materials and methods: 50 women with diagnosis of premenstrual syndrome (the basic group) and 25 persons without it (the control group) were examined. Polymerase chain reaction was used to study T-397C polymorphism of estrogen receptor gene ESR1. RESULTS: Results:There was no significant difference in allele and genotype rates of ESR1 gene between persons with premenstrual syndrome and controls. TT genotype was determined in 24.0 % women in the control group and 24 % of patients in basic group (OR=1.00, 95 % CI=0.32-3.08, p=1.00), TC genotype - in 52.0 % and 46.0 % of individuals respectively (OR=0.79, 95 % CI=0.30-2.06, p=0.62), CC genotype - 24.0 % and 30.0 % of women respectively (OR=1.36, 95 % CI=0.45-4.07, p=0.59). Also, the frequency of T allele and C allele was similar in individuals with pathology and healthy women. There was no significant difference in allele and genotype rates of T-397C variant of ESR1 gene between patients with mild and severe forms of premenstrual syndrome and controls. CONCLUSION: Conclusions: There is no association of T-397C polymorphic variant of estrogen receptor gene ESR1 with the development of premenstrual syndrome.


Assuntos
Predisposição Genética para Doença , Síndrome Pré-Menstrual , Receptores Estrogênicos/genética , Estudos de Casos e Controles , Estrogênios , Feminino , Genótipo , Humanos , Polimorfismo Genético
17.
Zh Nevrol Psikhiatr Im S S Korsakova ; 120(7. Vyp. 2): 61-66, 2020.
Artigo em Russo | MEDLINE | ID: mdl-32844632

RESUMO

Multiple sclerosis (MS) is often accompanied by a deficiency of vitamin D, the causes of which are not exactly clear how. It is suggested that this may be due to genetically determined characteristics of enzymes of vitamin D3 metabolism in patients with MS. OBJECTIVE: To evaluate the relationship between vitamin D status and polymorphisms of the genes encoding enzymes of the vitamin D metabolism CYP27B1 (rs703842) and CYP24A1 (rs2248359) in patients with MS. MATERIAL AND METHODS: Caucasians born and living in the Altai region of the Russian Federation, 90 patients with relapsing-remitting MS and 87 volunteers without MS took part in the study. The level of 25-hydroxyvitamin D (25(OH)D) in the blood serum was measured by enzyme immunoassay. Genotyping was carried out using the TaqMan probe method. RESULTS: A level of 25(OH)D of less than 30 ng/ml was more common among patients with MS compared with the control. A relationship between the MS risk and the TC genotype CYP27B1 (rs703842) was identified. In patients with MS and in the control, the GA genotype CYP24A1 (rs2248359) was associated with a 25(OH)D level of less than 30 ng/ml. CONCLUSION: The high prevalence of vitamin D deficiency in patients with MS may be associated with the genetically determined features of CYP27B1.


Assuntos
25-Hidroxivitamina D3 1-alfa-Hidroxilase/genética , Esclerose Múltipla , Deficiência de Vitamina D , Humanos , Esclerose Múltipla/complicações , Polimorfismo Genético , Federação Russa , Vitamina D , Deficiência de Vitamina D/genética , Vitamina D3 24-Hidroxilase/genética
18.
Am J Pathol ; 190(10): 2013-2017, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32735889

RESUMO

Coronavirus disease 2019 has markedly varied clinical presentations, with most patients being asymptomatic or having mild symptoms. However, severe acute respiratory disease, caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), is common and associated with mortality in patients who require hospitalization. The etiology of susceptibility to severe lung injury remains unclear. Angiotensin II, converted by angiotensin-converting enzyme (ACE) from angiotensin I and metabolized by ACE 2 (ACE2), plays a pivotal role in the pathogenesis of lung injury. ACE2 is identified as an essential receptor for SARS-CoV-2 to enter the cell. The binding of ACE2 and SARS-CoV-2 leads to the exhaustion and down-regulation of ACE2. The interaction and imbalance between ACE and ACE2 result in an unopposed angiotensin II. Considering that the ACE insertion (I)/deletion (D) gene polymorphism contributes to the ACE level variability in general population, in which mean ACE level in DD carriers is approximately twice that in II carriers, we propose a hypothesis of genetic predisposition to severe lung injury in patients with coronavirus disease 2019. It is plausible that the ACE inhibitors and ACE receptor blockers may have the potential to prevent and to treat the acute lung injury after SARS-CoV-2 infection, especially for those with the ACE genotype associated with high ACE level.


Assuntos
Infecções por Coronavirus , Predisposição Genética para Doença , Lesão Pulmonar/etiologia , Pandemias , Peptidil Dipeptidase A/genética , Pneumonia Viral , Angiotensina I/metabolismo , Angiotensina II/metabolismo , Antagonistas de Receptores de Angiotensina/farmacologia , Inibidores da Enzima Conversora de Angiotensina/farmacologia , Animais , Betacoronavirus/patogenicidade , Infecções por Coronavirus/tratamento farmacológico , Infecções por Coronavirus/fisiopatologia , Frequência do Gene , Genótipo , Humanos , Lesão Pulmonar/virologia , Peptidil Dipeptidase A/metabolismo , Pneumonia Viral/tratamento farmacológico , Pneumonia Viral/fisiopatologia , Polimorfismo Genético , Receptores Virais/metabolismo , Sistema Renina-Angiotensina/genética , Sistema Renina-Angiotensina/fisiologia
19.
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
20.
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
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