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1.
Medicine (Baltimore) ; 99(45): e23051, 2020 Nov 06.
Artículo en Inglés | MEDLINE | ID: mdl-33157959

RESUMEN

BACKGROUND: During the last decade, a number of studies have evaluated the potential association between some genetic polymorphisms and childhood asthma risk, however, the results of published studies appear conflicts. The aim of the present study was to investigate association between genetic polymorphisms and pediatric asthma. METHODS: Relevant studies were searched in PubMed, Embase, Web of Science, CNKI (China National Knowledge Infrastructure), Wanfang, and Weipu database. Pooled odds ratios (OR) with 95% confidence interval (CI) were calculated to evaluate the strength of the associations. RESULTS: Fifty five case-control studies were finally included in this meta-analysis, including 17,971 pediatric asthma cases and 17,500 controls. Eighteen polymorphisms were identified, of which, 9 polymorphisms were found to be associated with asthma risk in overall populations: IL-13 +2044G/A, IL-4 -590C/T, ADAM33 F+1, ADAM33 T2, ADAM33 T1, ADAM33 ST+4,ORMDL3 rs7216389, VDR FokI, VDR TaqI. Furthermore, IL-13 +2044G/A, IL-4 -590C/T, ADAM33 T2, ADAM33 T1, VDR BsmI polymorphisms may cause an increased risk of asthma among Chinese children. CONCLUSIONS: This meta-analysis found that IL-13 +2044G/A, IL-4 -590C/T, ADAM33 F+1, ADAM33 T2, ADAM33 T1, ADAM33 ST+4,ORMDL3 rs7216389, VDR FokI, and VDR TaqI polymorphisms might be risk factors for childhood asthma. Further study with large population and more ethnicities is needed to estimate these associations.


Asunto(s)
Proteínas ADAM/genética , Asma/genética , Interleucina-13/genética , Adolescente , Grupo de Ascendencia Continental Asiática/genética , Estudios de Casos y Controles , Niño , Preescolar , Manejo de Datos , Femenino , Humanos , Lactante , Masculino , Polimorfismo Genético/genética , Factores de Riesgo
2.
Braz Dent J ; 31(5): 466-470, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33146328

RESUMEN

Homeostasis between salivary calcium and phosphorus is important for maintaining oral health. The aim of this study was to evaluate if polymorphisms in ESR1 (Estrogen Receptor Alpha), ESR2 (Estrogen Receptor Beta) and miRNA17 (microRNA17) are associated with calcium and phosphorus levels in saliva. Saliva from 276 12-year-old children were collected by masticatory stimulation and calcium and phosphorus levels were determined by Mass Spectrometry. Genomic DNA was extracted from remaining saliva and genetic polymorphisms in ESR1 (rs12154178, rs1884051, rs9340799 and rs2234693), in ESR2 (rs4986938 and rs1256049) and in miRNA17 (rs4284505) were genotyped using TaqMan chemistry and a real-time PCR equipment. Statistical differences in genotype and allele distributions between 'low' and 'high' calcium and phosphorus levels were determined using chi-square or Fisher´s exact tests. The analysis was also adjusted by sex (alpha of 5%). ESR1 rs9340799 had the less common genotype associated with higher calcium levels (p=0.03). The less common allele of ESR1 rs1884051 was associated with lower phosphorus levels (p=0.005) and there was an excess of heterozygotes for miRNA17 rs4284505 among individuals with lower calcium levels (p=0.002), both adjusted by sex. This study provides evidence that genetic polymorphisms in ESR1 and miRNA17 are involved in determining salivary calcium and phosphorus levels.


Asunto(s)
Calcio , Receptor alfa de Estrógeno , MicroARNs , Niño , Receptor alfa de Estrógeno/genética , Predisposición Genética a la Enfermedad , Humanos , MicroARNs/genética , Fósforo , Polimorfismo Genético , Polimorfismo de Nucleótido Simple , Saliva
3.
Kardiologiia ; 60(8): 78-83, 2020 Sep 17.
Artículo en Ruso | MEDLINE | ID: mdl-33155962

RESUMEN

Aim To study the involvement of cytokine polymorphous loci in development of arterial hypertension (AH) in men from the Central Black Earth region of Russia.Materials and methods 821 men were evaluated, including 564 patients with AH and 257 individuals of the control group. Analysis of 8 cytokine mononucleotide polymorphisms (MNP) was performed using the real-time polymerase chain reaction with TagMan probes. Statistical analysis was performed with the STATISTICA (v.10.0) and PLINK (v.1.06) software. The regulatory potential of MNP was analyzed with the HaploReg (v.4.1) service (http://archive.broadinstitute.org).Results The rs1061624 ТNFR2 polymorphous locus was associated with development of AH in men in recessive (odd ratio (OR), 0.33; 95 % confidence interval (CI): 0.18-0.61, рperm=0.0004) and additive (OR, 0.50, 95 % CI: 0.34-0.74, рperm=0.0006) genetic models and exerted a protective effect in development of AH. The rs1061624 MNP of the ТNFR2 gene has a regulatory significance; it is located in the DNA sites hypersensitive to the action of DNAase 1 and in binding sites for transcriptional factors and histones that mark enhancers and promoters in different organs and tissues.Conclusion The rs1061624 ТNFR2 gene polymorphism is involved in the development of AH in men of the Central Black Earth region of Russia.


Asunto(s)
Hipertensión , Receptores Tipo II del Factor de Necrosis Tumoral , ADN , Humanos , Hipertensión/genética , Masculino , Polimorfismo Genético , Federación de Rusia
4.
J Clin Pediatr Dent ; 44(5): 364-372, 2020 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-33181847

RESUMEN

OBJECTIVES: Temporomandibular disorder (TMD) is considered a functional disorder with multifactorial aspects. The goal of this study was to investigate if genetic polymorphisms in the COL2A1 gene could be associated with TMD in adolescents. STUDY DESIGN: The case group (TMD-affected) included individuals diagnosed with any of the following TMD subgroups according to the RDC/TMD criteria: myofascial pain, disc displacements and arthralgia. Genomic DNA for molecular analysis was extracted from buccal cells and genetic polymorphisms in COL2A1 were genotyped by real time polymerase chain reactions using the TaqMan assay. Data were analyzed using the Epi Info 3.5.7 and Stata software. RESULTS: 249 subjects were included in this study (148 subjects "affected" by TMD). There were no significant differences between the affected and unaffected individual (p>0.05), for TMD, arthralgia and myofascial pain however, rs2276454 was borderline in the genotype distribution (p=0.07) and was associated with disc displacement (p=0.03) in the allelic distribution. Recessive model showed significant differences between groups for with disc displacement (p=0.02). CONCLUSIONS: Genetic polymorphisms in COL2A1 are not associated with myofascial pain, arthralgia or TMD in adolescents but this study provides evidence that rs2276454 is involved in the disc displacement of the temporomandibular joint.


Asunto(s)
Luxaciones Articulares , Polimorfismo Genético , Trastornos de la Articulación Temporomandibular , Síndrome de la Disfunción de Articulación Temporomandibular , Adolescente , Artralgia , Colágeno Tipo II/genética , Dolor Facial , Humanos , Mucosa Bucal , Articulación Temporomandibular , Trastornos de la Articulación Temporomandibular/genética
5.
Hum Genomics ; 14(1): 40, 2020 10 22.
Artículo en Inglés | MEDLINE | ID: mdl-33092637

RESUMEN

BACKGROUND: The emergence of the novel coronavirus in Wuhan, Hubei Province, China, in December 2019 marked the synchronization of the world to a peculiar clock that is counting infected cases and deaths instead of hours and minutes. The pandemic, highly transmissible severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has indeed caused considerable morbidity and mortality and drastically changed our everyday lives. As we continue to become acquainted with the seventh coronavirus known to infect our species, a number of its characteristics keep surprising us. Among those is the wide spectrum of clinical manifestations of the resulting coronavirus disease 2019 (COVID-19), which ranges from asymptomatic or mildly symptomatic infections to severe pneumonia, respiratory failure, and death. MAIN BODY: Data, now from patient populations, are beginning to accumulate on human genetic factors that may contribute to the observed diversified disease severity. Therefore, we deemed it prudent to review the associations between specific human genetic variants and clinical disease severity or susceptibility to infection that have been reported in the literature to date (at the time of writing this article in early August 2020 with updates in mid-September). With this work, we hope (i) to assist the fast-paced biomedical research efforts to combat the virus by critically summarizing current knowledge on the potential role of host genetics, and (ii) to help guide current genetics and genomics research towards candidate gene variants that warrant further investigation in larger studies. We found that determinants of differing severity of COVID-19 predominantly include components of the immune response to the virus, while determinants of differing susceptibility to SARS-CoV-2 mostly entail genes related to the initial stages of infection (i.e., binding of the cell surface receptor and entry). CONCLUSION: Elucidating the genetic determinants of COVID-19 severity and susceptibility to SARS-CoV-2 infection would allow for the stratification of individuals according to risk so that those at high risk would be prioritized for immunization, for example, if or when safe and effective vaccines are developed. Our enhanced understanding of the underlying biological mechanisms could also guide personalized therapeutics. Such knowledge is already beginning to provide clues that help explain, at least in part, current epidemiologic observations regarding the typically more severe or benign disease course in older males and children, respectively.


Asunto(s)
Infecciones por Coronavirus/diagnóstico , Predisposición Genética a la Enfermedad/genética , Neumonía Viral/diagnóstico , Betacoronavirus/patogenicidad , Humanos , Pandemias , Polimorfismo Genético/genética , Resultado del Tratamiento
6.
Fa Yi Xue Za Zhi ; 36(4): 531-537, 2020 Aug.
Artículo en Inglés, Chino | MEDLINE | ID: mdl-33047539

RESUMEN

Abstract: Objective To investigate the population genetic data of 47 autosomal insertion/deletion (InDel) polymorphism genetic markers involved in AGCU InDel 50 kit in Guangdong Han, Guangxi Zhuang, Guangxi Yao, Guangxi Jing, and Guangxi Mulam, and to evaluate their application in forensic DNA identification. Methods Multiplex amplification of the 768 unrelated individuals from the 5 ethnic groups mentioned above was performed with the AGCU InDel 50 kit. Genotyping was carried out by 3500xL gene analyzer, population genetic parameters were gathered and polymorphism analysis was performed. Results No linkage disequilibrium was found among 47 autosomal InDel loci in the 5 ethnic groups. The distribution of genotype frequency of 47 autosomal InDel loci confirmed to the Hardy-Weinberg equilibrium in Guangdong Han and Guangxi Zhuang. Except for rs139934789, the other 46 loci confirmed to the Hardy-Weinberg equilibrium in Guangxi Yao, Guangxi Jing, and Guangxi Mulam. The results of genetic variation analysis among the populations showed that 1.12% of genetic variation was caused by ethnic group differences. The cumulative discrimination power of 47 autosomal InDel loci for the 5 ethnic groups were all above 0.999 999 999 999 999. The cumulative probability of exclusion for each ethnic group was less than 0.999 9. The two Y-InDels were identified in all male individuals and were absent in all female individuals. Conclusion Except for rs139934789, the other 46 InDel loci have a relatively good genetic polymorphism in the 5 Chinese ethnic groups, and can be used for forensic individual identification and as effective supplements for paternity testing.


Asunto(s)
Grupos Étnicos , Genética de Población , Grupo de Ascendencia Continental Asiática/genética , China , Grupos Étnicos/genética , Femenino , Frecuencia de los Genes , Sitios Genéticos , Humanos , Mutación INDEL , Masculino , Repeticiones de Microsatélite , Polimorfismo Genético
7.
Fa Yi Xue Za Zhi ; 36(4): 538-544, 2020 Aug.
Artículo en Inglés, Chino | MEDLINE | ID: mdl-33047540

RESUMEN

Abstract: Objective To provide a theoretical basis for building a Y chromosome database in specific regions by analyzing the pedigree specific core haplogroup and region specific genetic structure in Changshu. Methods One thousand seven hundred and two samples from unrelated Han male individuals in Changshu were collected. Then 27 Y-STR were genotyped through YfilerTM Plus PCR Amplification Kit, Y-SNP haplogroup of each sample was speculated using Y-Predictor software and some samples were verified by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). Results A total of 1 556 haplotypes were found on the 27 Y-STR genetic markers of the 1 702 samples. The haplotype diversity (HD) value was 0.999 827. DYS385 (0.933) had the highest gene diversity (GD) value while DYS438 (0.409) had the lowest. By the Y-Predictor software, all samples were confirmed to be from 162 sub-haplogroups of C, D, N, O, Q and R. Samples were randomly selected to verify the prediction results by the software and the prediction accuracy of Y-Predictor software was as high as 95.74%. Conclusion This study found that 27 Y-STR genetic markers have relatively high polymorphisms in the Changshu population, and have good forensic individual identification and paternity testing ability.


Asunto(s)
Cromosomas Humanos Y , Genética de Población , Cromosomas Humanos Y/genética , Frecuencia de los Genes , Haplotipos , Humanos , Masculino , Repeticiones de Microsatélite , Polimorfismo Genético
8.
Sci Rep ; 10(1): 18289, 2020 10 26.
Artículo en Inglés | MEDLINE | ID: mdl-33106569

RESUMEN

The World Health Organization characterized COVID-19 as a pandemic in March 2020, the second pandemic of the twenty-first century. Expanding virus populations, such as that of SARS-CoV-2, accumulate a number of narrowly shared polymorphisms, imposing a confounding effect on traditional clustering methods. In this context, approaches that reduce the complexity of the sequence space occupied by the SARS-CoV-2 population are necessary for robust clustering. Here, we propose subdividing the global SARS-CoV-2 population into six well-defined subtypes and 10 poorly represented genotypes named tentative subtypes by focusing on the widely shared polymorphisms in nonstructural (nsp3, nsp4, nsp6, nsp12, nsp13 and nsp14) cistrons and structural (spike and nucleocapsid) and accessory (ORF8) genes. The six subtypes and the additional genotypes showed amino acid replacements that might have phenotypic implications. Notably, three mutations (one of them in the Spike protein) were responsible for the geographical segregation of subtypes. We hypothesize that the virus subtypes detected in this study are records of the early stages of SARS-CoV-2 diversification that were randomly sampled to compose the virus populations around the world. The genetic structure determined for the SARS-CoV-2 population provides substantial guidelines for maximizing the effectiveness of trials for testing candidate vaccines or drugs.


Asunto(s)
Betacoronavirus/genética , Polimorfismo Genético , Betacoronavirus/clasificación , Betacoronavirus/aislamiento & purificación , Infecciones por Coronavirus/epidemiología , Infecciones por Coronavirus/patología , Infecciones por Coronavirus/virología , Genotipo , Humanos , Proteínas de la Nucleocápside/genética , Pandemias , Filogenia , Neumonía Viral/epidemiología , Neumonía Viral/patología , Neumonía Viral/virología , Glicoproteína de la Espiga del Coronavirus/genética , Proteínas no Estructurales Virales/genética , Proteínas Virales/genética
9.
Proc Biol Sci ; 287(1931): 20200975, 2020 07 29.
Artículo en Inglés | MEDLINE | ID: mdl-33043864

RESUMEN

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.


Asunto(s)
Insectos/fisiología , Conducta Sexual Animal , Animales , Femenino , Masculino , Ortópteros , Fenotipo , Polimorfismo Genético , Selección Genética
10.
Zootaxa ; 4838(4): zootaxa.4838.4.5, 2020 Aug 28.
Artículo en Inglés | MEDLINE | ID: mdl-33056804

RESUMEN

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.


Asunto(s)
Saltamontes , Animales , Ambiente , Femenino , Masculino , México , Polimorfismo Genético
11.
J Renin Angiotensin Aldosterone Syst ; 21(4): 1470320320963939, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33045911

RESUMEN

OBJECTIVE: The previous studies on angiotensin converting enzyme (ACE) insertion/deletion (I/D) genetic polymorphism and glioma risk were inconsistent. Therefore, we performed a meta-analysis to assess the association between ACE I/D polymorphisms and glioma risk. METHODS AND RESULTS: In total, four populations (1110 cases and 1335 controls) on ACE I/D polymorphism were included. Overall, the meta-analysis demonstrated no significant association between ACE I/D polymorphism and glioma risk. In addition, the analysis of the association of ACE I/D polymorphism and clinical grade also showed no significant association. CONCLUSION: Our meta-analysis didn't find a significant association between ACE I/D polymorphism glioma risk. However, further studies with larger sample size and more ethnic groups are required to confirm the results.


Asunto(s)
Neoplasias Encefálicas/genética , Eliminación de Gen , Predisposición Genética a la Enfermedad/genética , Glioma/genética , Mutagénesis Insercional/genética , Peptidil-Dipeptidasa A/genética , Polimorfismo Genético/genética , Neoplasias Encefálicas/epidemiología , Glioma/epidemiología , Humanos , Medición de Riesgo
12.
Medicine (Baltimore) ; 99(41): e22169, 2020 Oct 09.
Artículo en Inglés | MEDLINE | ID: mdl-33031260

RESUMEN

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.


Asunto(s)
Eyaculación Prematura/genética , Proteínas de Transporte de Serotonina en la Membrana Plasmática/genética , Estudios de Casos y Controles , Humanos , Masculino , Polimorfismo Genético
13.
Science ; 370(6512): 50-56, 2020 10 02.
Artículo en Inglés | MEDLINE | ID: mdl-33004510

RESUMEN

Sleep is evolutionarily conserved across all species, and impaired sleep is a common trait of the diseased brain. Sleep quality decreases as we age, and disruption of the regular sleep architecture is a frequent antecedent to the onset of dementia in neurodegenerative diseases. The glymphatic system, which clears the brain of protein waste products, is mostly active during sleep. Yet the glymphatic system degrades with age, suggesting a causal relationship between sleep disturbance and symptomatic progression in the neurodegenerative dementias. The ties that bind sleep, aging, glymphatic clearance, and protein aggregation have shed new light on the pathogenesis of a broad range of neurodegenerative diseases, for which glymphatic failure may constitute a therapeutically targetable final common pathway.


Asunto(s)
Enfermedad de Alzheimer/etiología , Sistema Glinfático/fisiopatología , Trastornos del Sueño-Vigilia/complicaciones , Sueño , Envejecimiento , Enfermedad de Alzheimer/fisiopatología , Animales , Acuaporina 4/genética , Enfermedades Cardiovasculares/etiología , Humanos , Sistema Linfático/fisiopatología , Ratones , Polimorfismo Genético , Proteínas Priónicas/metabolismo , Agregado de Proteínas , Trastornos del Sueño-Vigilia/fisiopatología
14.
PLoS One ; 15(10): e0241172, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33091066

RESUMEN

The novel coronavirus 2019 (COVID-19) global pandemic has drastically affected the world economy, raised public anxiety, and placed a substantial psychological burden on the governments and healthcare professionals by affecting over 4.7 million people worldwide. As a preventive measure to minimise the risk of community transmission of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in India, a nationwide lockdown was imposed initially for 21 days to limit the movement of 1.3 billion people. These restrictions continue in most areas, with a conditional relaxation occurring in a few Indian states. In an attempt to assess the emerging mutants of SARS-CoV-2 and determine their spread in India, we analysed 112 complete genomes of SARS-CoV-2 in a time-lapse manner. We found 72 distinct SARS-CoV-2 haplotypes, defined by 143 polymorphic sites and high haplotype diversity, suggesting that this virus possesses a high evolutionary potential. We also demonstrated that early introduction of SARS-CoV-2 into India was from China, Italy and Iran and observed signs of community spread of the virus following its rapid demographic expansion since its first outbreak in the country. Additionally, we identified 18 mutations in the SARS-CoV-2 spike glycoprotein and a few selected mutations showed to increase stability, binding affinity, and molecular flexibility in the overall tertiary structure of the protein that may facilitate interaction between the receptor binding domain (RBD) of spike protein and the human angiotensin-converting enzyme 2 (ACE2) receptor. The study provides a pragmatic view of haplotype-dependent spread of SARS-CoV-2 in India which could be important in tailoring the pharmacologic treatments to be more effective for those infected with the most common haplotypes. The findings based on the time-lapse sentinel surveillance of SARS-CoV-2 will aid in the development of a real-time practical framework to tackle the ongoing, fast-evolving epidemic challenges in the country.


Asunto(s)
Betacoronavirus/genética , Infecciones por Coronavirus/epidemiología , Infecciones por Coronavirus/transmisión , Neumonía Viral/epidemiología , Neumonía Viral/transmisión , Vigilancia de Guardia , Infecciones por Coronavirus/prevención & control , Infecciones por Coronavirus/virología , Genoma Viral/genética , Haplotipos , Humanos , India/epidemiología , Simulación del Acoplamiento Molecular , Mutación , Pandemias/prevención & control , Peptidil-Dipeptidasa A/metabolismo , Filogenia , Neumonía Viral/prevención & control , Neumonía Viral/virología , Polimorfismo Genético , Estructura Terciaria de Proteína , Cuarentena/métodos , Glicoproteína de la Espiga del Coronavirus/química , Glicoproteína de la Espiga del Coronavirus/genética , Glicoproteína de la Espiga del Coronavirus/metabolismo
15.
Artículo en Ruso | MEDLINE | ID: mdl-33081452

RESUMEN

OBJECTIVE: To assess the dynamics of cognitive functions in patients with schizophrenia during intake of various forms of folate as an add-on to antipsychotic therapy. MATERIAL AND METHODS: Using a battery of cognitive tests, the authors evaluated the dynamics of cognitive functions in 3 groups of patients with schizophrenia who received folic acid (n=25), metafolin (n=25) during 4 weeks and in the control group (n=25). Genetic variants of the polymorphism of the folate metabolism enzyme methylenetetrahydrofolate reductase (MTHFR) 677C>T were determined using real-time PCR. Only the carriers of the minor T allele were included in the study. RESULTS AND CONCLUSION: The improvement of certain cognitive functions was noted after folate administration, it was more pronounced and statistically significant in the metapholin group. The results hold promises for further studies of prolonged use of folate in prophylactic doses for schizophrenia.


Asunto(s)
Ácido Fólico , Esquizofrenia , Cognición , Humanos , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Polimorfismo Genético , Esquizofrenia/tratamiento farmacológico , Esquizofrenia/genética
16.
Medicine (Baltimore) ; 99(44): e22775, 2020 Oct 30.
Artículo en Inglés | MEDLINE | ID: mdl-33126315

RESUMEN

BACKGROUND: Although several studies have identified an association between the receptor for advanced glycation end-product (RAGE) rs1800624 polymorphism and breast cancer, the results have been conflicting. Therefore, we conducted a meta-analysis to assess the relationship between the RAGE rs1800624 polymorphism and breast cancer risk. METHODS: Studies were searched in the PubMed, Web of Science, Embase, Wanfang Med Online, and China National Knowledge Infrastructure databases until September 20, 2019 to identify all potential literature on this association. Fixed-effect or random-effect models were used to calculate odds ratios (ORs) and their corresponding 95% confidence intervals (95% CIs). Subgroup and sensitivity analyses and tests for publication bias were also performed. RESULTS: Five eligible studies involving 2823 subjects (1410 patients and 1413 healthy controls) were included in the current meta-analysis. The pooled analysis indicated a positive correlation between the RAGE rs1800624 polymorphism and the risk of breast cancer in a homozygous genetic model (OR = 1.423, 95% CI = 1.043-1.941, P = .026). Ethnicity-based subgroup analysis demonstrated that RAGE rs1800624 polymorphism may increase the risk of breast cancer in the Asian population in homozygous model (OR = 1.661, 95% CI = 1.178-2.342, P = .004). CONCLUSION: The RAGE rs1800624 polymorphism may increase the risk of breast cancer in the homozygous genetic model, especially in Asian populations. Large-scale and well-designed studies are needed in different populations to further evaluate the role of the RAGE polymorphism in breast cancer.


Asunto(s)
Neoplasias de la Mama/genética , Predisposición Genética a la Enfermedad/genética , Polimorfismo Genético/genética , Receptor para Productos Finales de Glicación Avanzada/genética , Estudios de Casos y Controles , Femenino , Genotipo , Humanos , Oportunidad Relativa
18.
Medicine (Baltimore) ; 99(36): e21918, 2020 Sep 04.
Artículo en Inglés | MEDLINE | ID: mdl-32899025

RESUMEN

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.


Asunto(s)
Glutatión Transferasa/genética , Esquizofrenia/genética , Adulto , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo Genético , Factores de Riesgo
19.
Urologiia ; (4): 84-89, 2020 Sep.
Artículo en Ruso | MEDLINE | ID: mdl-32897019

RESUMEN

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.


Asunto(s)
Gutatión-S-Transferasa pi/genética , Glutatión Transferasa/genética , Infertilidad Masculina , Adulto , Estudios de Casos y Controles , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Infertilidad Masculina/genética , Masculino , Estrés Oxidativo , Polimorfismo Genético , Adulto Joven
20.
Zhongguo Zhong Yao Za Zhi ; 45(15): 3659-3665, 2020 Aug.
Artículo en Chino | MEDLINE | ID: mdl-32893555

RESUMEN

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.


Asunto(s)
Dermatoglifia del ADN , Variación Genética , Análisis por Conglomerados , Marcadores Genéticos , Filogenia , Polimorfismo Genético
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