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1.
Medicine (Baltimore) ; 99(5): e18921, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-32000403

RESUMEN

BACKGROUND: Recent studies have suggested that the potential functional polymorphism R47H in triggering receptors expressed on myeloid cells 2 (TREM2) is associated with several neurodegenerative diseases, however, the results remain inconclusive. This meta-analysis aimed to investigate the association between TREM2 R47H and the risk for 3 typical neurodegenerative diseases: Alzheimer disease (AD), Parkinson disease (PD), and amyotrophic lateral sclerosis (ALS). METHODS: A literature review was carried out using PubMed, Medline, and Embase. Data analysis was conducted using Stata 15.0 software. The pooled odds ratio (ORs) and 95% confidence interval (CIs) were calculated. RESULTS: A total of 35 articles were identified as eligible: 22 on AD, 3 on ALS, 7 on PD, 2 on AD and ALS, and 1 on ALS and PD. The AD set included 23,092 cases and 30,920 controls, the ALS set included 7391 cases and 12,442 controls, and the PD set included 8498 patients and 9161 controls. We found that R47H was associated with an increased risk of AD in the total pooled population (P < .001, OR = 4.02, 95% CI = 3.15-5.13). However, this significant difference existed for Caucasian people (OR = 4.16, 95% CI = 3.24-5.33) but not for Asian or African people. Moreover, we did not find any significant differences in minor allele frequency distribution between the PD and control groups or between the ALS and control groups, not only for the total pooled population but also for the subgroups of different ethnicities. CONCLUSION: Our study suggested that R47H in the TREM2 gene leads to an increased risk for developing AD, but not for ALS and PD, which adds evidence to the notion that diverse pathogenesis may be involved in different neurogenerative diseases.


Asunto(s)
Enfermedad de Alzheimer/genética , Esclerosis Amiotrófica Lateral/genética , Glicoproteínas de Membrana/genética , Enfermedad de Parkinson/genética , Receptores Inmunológicos/genética , Predisposición Genética a la Enfermedad , Humanos , Polimorfismo Genético
2.
Medicine (Baltimore) ; 99(5): e18937, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-32000410

RESUMEN

This study is to investigate the relationship of P-selectin (Ps) gene rs1800807 and rs1800808 polymorphisms with plasma soluble P-selectin (sPs) in Han, Uygur, and Kazakh people with atrial fibrillation (AF) and thromboembolism (TE) in Xinjiang, China.A total of 778 Han patients (including 131 patients with AF and TE, 229 patients with AF and 418 healthy individuals), 660 Uygur patients (including 118 patients with AF and TE, 232 patients with AF and 310 healthy individuals), and 505 Kazakh patients (including 42 patients with AF and TE, 156 patients with AF and 307 healthy individuals) were enrolled in this study. Polymerase chain reaction-restriction fragment length polymorphism and direct DNA sequence analysis were used to analyze the polymorphisms of rs1800807 and rs1800808 of Ps gene. ELISA was used to determine the plasma sPs level. The association between plasma sPs levels and Ps gene polymorphisms was further analyzed.The sPs concentrations of GG genotype at rs1800807 locus in the Han, Uygur and Kazakh ethnic groups in Xinjiang, China were significantly higher than those of the CC genotype and CG genotype (P < .05). In the rs1800808 locus, plasma sPs concentrations of the heterozygous mutant CT genotypes in Han and Uygur populations were significantly higher than those in the CC and TT genotypes, whereas the plasma sPs concentrations in Kazakh TT genotypes were significantly higher than those in the CC and CT genotypes (P < .05). Among different ethnic groups, there were significant differences in sPs levels of rs1800807 and rs1800808 genotypes (P < .05).Plasma sPs concentrations are associated with Ps genotypes and sPs concentration of the same genotype shows racial differences.


Asunto(s)
Fibrilación Atrial/sangre , Fibrilación Atrial/genética , Selectina-P/sangre , Selectina-P/genética , Tromboembolia/sangre , Tromboembolia/genética , Grupo de Ascendencia Continental Asiática/genética , Fibrilación Atrial/complicaciones , Fibrilación Atrial/etnología , Biomarcadores/sangre , China , Femenino , Estudios de Asociación Genética , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo Genético , Tromboembolia/complicaciones , Tromboembolia/etnología
4.
Anticancer Res ; 40(1): 101-107, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31892558

RESUMEN

BACKGROUND: Mitochondria are energy-producing organelles, and dysfunction in these organelles causes various types of disease. Although several studies have identified mutations in nuclear DNA that are associated with the etiology of ulcerative colitis (UC), information regarding mitochondrial DNA (mtDNA) in UC is limited. This study aimed to investigate the mitochondrial DNA polymorphism underlying the etiology of UC and UC-associated colorectal cancer. MATERIALS AND METHODS: Next-generation sequencing was performed to assess mitochondrial DNA mutations in 12 patients with UC-associated cancer. The mtDNA mutations in the non-neoplastic mucosa, tumor tissues, and healthy controls were compared. RESULTS: The incidence of mutations of nicotinamide adenine dinucleotide phosphate ubiquinone oxidase subunit, ATP synthetase, and tRNA was higher in non-neoplastic mucosa in those with UC compared with the healthy controls. However, no statistically significant differences were observed in mutations between the tumor tissues and non-neoplastic mucosa in UC. CONCLUSION: Significant mutations in mtDNA were observed in the non-neoplastic mucosa of patients with UC-associated cancer.


Asunto(s)
Colitis Ulcerosa/complicaciones , Colitis Ulcerosa/genética , Neoplasias Colorrectales/etiología , Genes Mitocondriales , Polimorfismo Genético , Transformación Celular Neoplásica/genética , Colitis Ulcerosa/metabolismo , Colitis Ulcerosa/patología , Neoplasias Colorrectales/metabolismo , Neoplasias Colorrectales/patología , Susceptibilidad a Enfermedades , Femenino , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Mucosa Intestinal/metabolismo , Mucosa Intestinal/patología , Masculino , Mutación
5.
Zhonghua Er Ke Za Zhi ; 58(1): 41-45, 2020 Jan 02.
Artículo en Chino | MEDLINE | ID: mdl-31905475

RESUMEN

Objective: To evaluate the effectiveness of eradication therapy based on Helicobacter pylori (Hp) susceptibility and CYP2C19 genotype in children with refractory Hp infection. Methods: In this prospective observational cohort study, 156 children with Hp refractory to amoxicillin+clarithromycin+omeprazole triple regimen in Baoding Children's Hospital from December 2017 to May 2018 were enrolled. Ninety-two of them underwent Hp culture and CYP2C19 detection. Seventy-five cases with positive Hp culture were defined as culture successful group and were treated according to Hp susceptibility and CYP2C19 genotype. Seventeen cases with negative Hp culture were defined as culture failed group and were treated only based on the results of CYP2C19 genotype. Sixty-four children who did not have Hp culture and CYP2C19 gene testing were defined as the empirical eradication therapy group and were treated with quadruple regimen (amoxicillin+metronidazole+omeprazole+bismuth). Bacterial resistance, CYP2C19 polymorphism and therapeutic effectiveness between the three groups were compared using chi-square test. Results: Among the 75 positive Hp culture results, 72 (96%) were resistant to clarithromycin, 3 (4%) were resistant to metronidazole, 5 (7%) were resistant to levofloxacin, 5 (7%) were resistant to rifampicin, 1 (1%) was resistant to tetracycline, and none was resistant to amoxicillin and furazolidone. The CYP2C19 polymorphism in 92 patients showed that 43 (47%) were extensive metabolizer (EM), 9 (10%) were poor metabolizer (PM), and 40 (43%) were intermediate metabolizer (IM). In terms of the effectiveness, eradication rate in the culture successful group,culture failed group and empirical eradication therapy group were 99% (74/75), 88% (15/17) and 72% (46/64), respectively (χ(2)=21.325, P<0.05). The eradication rate in the culture successful group was significantly higher than that in empirical eradication therapy group (χ(2)=21.005, P<0.05), while there was no difference between empirical eradication therapy group and culture failed group (χ(2)=1.154, P=0.283). Conclusion: Eradication regimen based on bacterial susceptibility and CYP2C19 genotype should be considered in children with refractory Hp infection.


Asunto(s)
Citocromo P-450 CYP2C19/genética , Quimioterapia Combinada , Infecciones por Helicobacter/tratamiento farmacológico , Infecciones por Helicobacter/genética , Helicobacter pylori/efectos de los fármacos , Helicobacter pylori/genética , Omeprazol/uso terapéutico , Amoxicilina/uso terapéutico , Antibacterianos/uso terapéutico , Bismuto/uso terapéutico , Niño , Claritromicina/administración & dosificación , Claritromicina/uso terapéutico , Estudios de Cohortes , Resistencia a Medicamentos/genética , Femenino , Genotipo , Helicobacter pylori/aislamiento & purificación , Humanos , Masculino , Metronidazol/uso terapéutico , Omeprazol/administración & dosificación , Polimorfismo Genético , Estudios Prospectivos , Resultado del Tratamiento
6.
Mymensingh Med J ; 29(1): 108-114, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31915345

RESUMEN

The MDM2 gene is a negative regulator of p53, which has been linked to lung cancer. Here, we have evaluated the association of MDM2 SNP 285 G>C (rs117039649) and SNP 354 A>G (rs769412) with lung cancer risk in Bangladeshi population at the National Institute of Cancer Research and Hospital, Dhaka, Bangladesh from July 2015 to June 2017. We have genotyped 126 lung cancer patients and 133 healthy controls from Bangladesh by PCR-RFLP method for this study. Statistical analyses were performed to define the associations. Multivariate logistic regression revealed that MDM2 SNP 285 decreases the risk of lung cancer (GC+CC vs. GG: OR = 0.29, 95% CI = 0.15-0.56, p<0.005). A stratification analysis confirmed that this protective status is extended to younger people, male, overweight people, and smokers (GC+CC vs. GG: OR = 0.25-0.29, 95% CI = 0.11-0.69, p<0.01). However, we did not find any association of SNP 354 with lung cancer risk in Bangladeshi population (p>0.05). The present data indicated that MDM2 SNP 285 G>C (rs117039649) reduces the chance of lung cancer development in Bangladeshi population. However, MDM2 SNP 354 A>G (rs769412) has no such association in the same population.


Asunto(s)
Grupo de Ascendencia Continental Asiática , Predisposición Genética a la Enfermedad , Neoplasias Pulmonares/genética , Proteínas Proto-Oncogénicas c-mdm2/genética , Proteína p53 Supresora de Tumor/genética , Grupo de Ascendencia Continental Asiática/etnología , Grupo de Ascendencia Continental Asiática/genética , Bangladesh , Estudios de Casos y Controles , Humanos , Masculino , Polimorfismo Genético , Polimorfismo de Nucleótido Simple , Factores de Riesgo
7.
J Clin Pediatr Dent ; 44(1): 35-40, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-31995419

RESUMEN

Purpose: Recent studies have suggested that disruptions in the RANKL/RANK/OPG system might be involved in enamel conditions. The aim of this study was to test whether genetic polymorphisms in RANK, RANKL and OPG are associated with dental caries, developmental defects of enamel (DDE) and enamel microhardness. Study design: Saliva samples were collected from two subsets for the purpose of genomic DNA extraction. In the first subset, composed of 248 children, dental caries and DDE were evaluated during their clinical examination. In the second subset, composed of 72 children, enamel samples from the buccal surface of primary teeth were used for enamel microhardness analysis. Genetic polymorphisms in RANK, RANKL and OPG were genotyped by real-time polymerase chain reactions in all samples from both populations. The chi-square test was used for dental caries and DDE analysis while, one-way ANOVA with Tukey's post-test was used for microhardness analysis. Hardy-Weinberg equilibrium was also calculated. The established alpha was 5%. Results: Caries experience analysis demonstrated a statistically-significant difference for OPG allele distribution in primary dentition (p=0.033). The studied polymorphisms in RANK, RANKL and OPG were not associated with DDE or enamel microhardness (p>0.05). Conclusion: The genetic polymorphism rs2073618 in OPG is associated with dental caries experience in primary dentition.


Asunto(s)
Caries Dental , Hipoplasia del Esmalte Dental , Niño , Esmalte Dental , Humanos , Polimorfismo Genético , Diente Primario
9.
Toxicol Lett ; 320: 58-63, 2020 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-31805342

RESUMEN

The current study uses the metabolic probe, antipyrine, and AhRR transcript expression (qRT-PCR) to examine the impact of the AhRR (565C > G or Pro185Ala, rs2292596) genetic polymorphism upon CYP1A2 inducibility in an established cohort of male firefighters with exposure to dioxin-like chemicals. The lipid adjusted concentrations of 29 dioxin and dioxin-like congeners were measured in serum. Possession of the G allele (CG and GG genotypes) was correlated with high expression AhRR transcript and lower CYP1A2 induction than found in individuals homozygous for CC. The induction of CYP1A2 was dioxin-dependent among carriers of the G allele. Multivariate models indicated that CYP1A2 activity, detected as urinary 3-hydroxymethylantipyrine, was significantly correlated with cotinine concentration and for those currently working as firefighters, dioxin body burden (ß = 0.54, p = 0.041). The efficacy of the AhRR in regulating the AhR signaling pathway is influenced by the AhRR (565C > G) polymorphism. Our study of firefighters using the induction of CYP1A2 as an indicator suggest that G allele proteins have variable AhR repressor activity which is manifested in a dioxin-dependent manner. These results provide evidence of metabolic differences that may affect susceptibility to dioxin-mediated health effects.


Asunto(s)
Factores de Transcripción con Motivo Hélice-Asa-Hélice Básico/genética , Inductores del Citocromo P-450 CYP1A2/efectos adversos , Citocromo P-450 CYP1A2/biosíntesis , Dioxinas/efectos adversos , Bomberos , Exposición Profesional/efectos adversos , Polimorfismo Genético , Proteínas Represoras/genética , Antipirina/análogos & derivados , Antipirina/orina , Inducción Enzimática , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Fenotipo
10.
Mol Genet Genomics ; 295(1): 221-231, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31641857

RESUMEN

The Xinjiang Uyghur Autonomous Region of China (XUARC) with 47 ethnic groups is a very colorful ethnic region of China, harboring abundant genetic and cultural diversity. The Kazakhs are the third largest ethnic group (7.02%) after Uyghur (46.42%) and Han (38.99%) in Xinjiang, but their genetic diversity and forensic characterization are poorly understood. In the current study, we genotyped 15 autosomal short tandem repeat (STR) loci and ten Y-STRs in 889 individuals (659 male and 230 female) collected from Kazak population of the Ili Kazak Autonomous Prefecture using AGCU Expressmarker 16 and 10Y-STR Kit (EX16 + 10Y). For autosomal STRs, we observed a total of 174 different alleles ranging from 6 to 34.2 repeat units and FGA showed the greatest power of discrimination (20 alleles) in Ili Kazakh population. We have not observed departures from Hardy-Weinberg equilibrium (HWE) after sequential Bonferroni correction and only found a minimal departure from linkage equilibrium (LE) for a very small number of pairwise combinations of loci. The combined power of exclusion (CPE) was 0.99999998395 and combined power of discrimination (CPD) was 99.999999999999999798%. For Y-STRs, we observed a total of 496 different haplotypes in these ten Y-STR loci. The gene diversities ranged from 0.5023 (DYS391) to 0.8357 (DYS385a/b). The overall haplotype diversity (GD) was 0.9985 with random matching probability (RMP) of 0.0015. The results of population genetic analysis based on both autosomal and Y-chromosome STRs demonstrated that the genetic affinity among populations is generally consistent with ethnic, linguistic, and continental geographical classifications.


Asunto(s)
Grupo de Ascendencia Continental Asiática/genética , Cromosomas/genética , Polimorfismo Genético/genética , Alelos , Femenino , Frecuencia de los Genes/genética , Pruebas Genéticas/métodos , Genética de Población/métodos , Haplotipos/genética , Humanos , Masculino , Repeticiones de Microsatélite/genética , Filogenia
11.
Gene ; 726: 144175, 2020 Feb 05.
Artículo en Inglés | MEDLINE | ID: mdl-31726084

RESUMEN

This review was carried out with the purpose of contributing to the discussion on the equations used in calculating the Polymorphism Information Content (PIC) of molecular markers. PIC measures the ability of a marker to detect polymorphisms, and therefore has enormous importance in selecting markers for genetic studies. We perform a summary analysis of PIC and its difference in relation to heterozygosity, another parameter used to evaluate the quality of a marker, presenting and discussing the several equations registered in the literature for both dominant and codominant markers. Finally, we present a brief direction on estimating PIC for dominant markers.


Asunto(s)
Marcadores Genéticos/genética , Polimorfismo Genético/genética , Animales , Heterocigoto , Humanos
12.
Mol Genet Genomics ; 295(1): 177-193, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31620884

RESUMEN

Genetic variation is expressed by the presence of polymorphisms in compared genomes of individuals that can be transferred to next generations. The aim of this work was to reveal genome dynamics by predicting polymorphisms among the genomes of three individuals of the highly inbred B10 cucumber (Cucumis sativus L.) line. In this study, bioinformatic comparative genomics was used to uncover cucumber genome dynamics (also called real-time evolution). We obtained a new genome draft assembly from long single molecule real-time (SMRT) sequencing reads and used short paired-end read data from three individuals to analyse the polymorphisms. Using this approach, we uncovered differentiation aspects in the genomes of the inbred B10 line. The newly assembled genome sequence (B10v3) has the highest contiguity and quality characteristics among the currently available cucumber genome draft sequences. Standard and newly designed approaches were used to predict single nucleotide and structural variants that were unique among the three individual genomes. Some of the variant predictions spanned protein-coding genes and their promoters, and some were in the neighbourhood of annotated interspersed repetitive elements, indicating that the highly inbred homozygous plants remained genetically dynamic. This is the first bioinformatic comparative genomics study of a single highly inbred plant line. For this project, we developed a polymorphism prediction method with optimized precision parameters, which allowed the effective detection of small nucleotide variants (SNVs). This methodology could significantly improve bioinformatic pipelines for comparative genomics and thus has great practical potential in genomic metadata handling.


Asunto(s)
Cucumis sativus/genética , Genoma de Planta/genética , Mapeo Cromosómico/métodos , Biología Computacional/métodos , Genómica/métodos , Anotación de Secuencia Molecular/métodos , Polimorfismo Genético/genética , Regiones Promotoras Genéticas/genética
13.
J Oral Pathol Med ; 49(1): 82-90, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31402483

RESUMEN

BACKGROUND: Progressive telomere shortening with age or chronic inflammation may lead to genomic instability that characterizes the early stage of carcinogenesis. Certain risk factors, such as drinking alcoholic beverages or smoking, predispose the oral mucosa to squamous cell carcinoma. The ADH1B and ALDH2 genotypes can influence the risk of cancer due to alcohol drinking. In the present study, we analyzed chromosomal instability due to telomere shortening in the oral mucosa in relation to cancer risk factors. DESIGN: Using our quantitative fluorescence in situ hybridization (Q-FISH) technique, we estimated telomere lengths (TL) in the background mucosa from 23 cases of mucosal carcinoma, 12 cases of oral epithelial dysplasia, and 21 non-neoplasia cases. ALDH2 and ADH1B genotypes were determined using DNA extracted from paraffin sections. We analyzed TL in relation to alcohol drinking, smoking, and cancer multiplicity. RESULTS: Telomeres in the backgrounds of dysplasia and mucosal carcinoma were significantly shorter than in controls. In comparison with adult controls, telomeres were significantly (P = .038) shorter in the ADH1B less-active type (ADH1B*1/*1), but not (P = .841) in the ALDH2 inactive type (ALDH2*1/*2 or *2/*2). Cancer multiplicity and smoking had no significant relationship with TL. CONCLUSION: Telomeres in the oral epithelium are shorter in cases of oral dysplasia or mucosal carcinoma than in non-neoplasia. Unlike the esophageal epithelium of alcoholics, they are also shorter in individuals with the less-active rather than the active ADH1B gene. Telomeres in the oral epithelium may be directly affected by alcohol drinking.


Asunto(s)
Alcohol Deshidrogenasa/genética , Aldehído Deshidrogenasa Mitocondrial/genética , Acortamiento del Telómero , Adulto , Consumo de Bebidas Alcohólicas , Genotipo , Humanos , Hibridación Fluorescente in Situ , Polimorfismo Genético
14.
Ecol Lett ; 23(1): 149-159, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31692246

RESUMEN

Conflicts of interests between males and females over reproduction is a universal feature of sexually reproducing organisms and has driven the evolution of intersexual mimicry, mating behaviours and reproductive polymorphisms. Here, we show how temperature drives pre-reproductive selection in a female colour polymorphic insect that is subject to strong sexual conflict. These species have three female colour morphs, one of which is a male mimic. This polymorphism is maintained by frequency-dependent sexual conflict caused by male mating harassment. The frequency of female morphs varies geographically, with higher frequency of the male mimic at higher latitudes. We show that differential temperature sensitivity of the female morphs and faster sexual maturation of the male mimic increases the frequency of this morph in the north. These results suggest that sexual conflict during the adult stage is shaped by abiotic factors and frequency-independent pre-reproductive selection that operate earlier during ontogeny of these female morphs.


Asunto(s)
Polimorfismo Genético , Reproducción , Animales , Impulso (Psicología) , Femenino , Insectos , Masculino , Temperatura Ambiental
15.
J Endod ; 46(1): 3-11.e1, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31843126

RESUMEN

INTRODUCTION: Recent studies involving genetic polymorphism and expression have provided information about their role in periapical lesions. This study aimed to evaluate if there is an association between the genetic polymorphism and gene and protein expressions of matrix metalloproteinases (MMPs) and their inhibitors (TIMPs) in the periapical inflammatory response. METHODS: A systematic review was conducted through a rigorous search in electronic databases as well as a hand search. Two reviewers (κ = 0.90) evaluated the studies considering predetermined eligibility criteria, extracted data for interpretation, and finally used the Strengthening the Reporting of the Genetic Association statement to determine the quality of the scientific evidence. RESULTS: The initial search identified 251 studies. After excluding the duplicates and applying the eligibility criteria, 15 studies were eligible to be assessed in full. Two studies had grade A and 13 grade B quality according to the Strengthening the Reporting of the Genetic Association and were included. The selected studies showed that the periapical lesion tissue samples had a high concentration of MMPs; moreover, there was an expressive decrease in the concentration of MMPs and TIMPs in patients with periapical lesions after mechanical chemical preparation. In relation to genetic polymorphisms, MMP1, MMP2, MMP3, and MMP8 were associated with a higher risk of periapical lesions. Moreover, MMPs 1, 2, 3, 7, 8, 9, 13, 14, 16, and 25 and TIMP 1, 2, 3, and 4 can play an important role in the progression of periapical lesions. CONCLUSIONS: Based on articles with medium to high quality, MMPs and TIMPs are associated with the formation of periapical lesions (PROSPERO number: CDR42018100406).


Asunto(s)
Caries Dental , Metaloproteinasa 2 de la Matriz , Polimorfismo Genético , Caries Dental/genética , Humanos , Metaloproteinasa 2 de la Matriz/genética
16.
Food Chem ; 307: 125532, 2020 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-31639578

RESUMEN

The objective of this study was to determine the ß-CN phenotypes in cow milk collected from HF and cross-bred HF dairy cattle in Phu Dong, Vietnam. In total, 85 samples of raw milk were collected from 85 individual cows. Beta-casein (ß-CN) phenotypes in cow milk were determined using ultra-high performance liquid chromatography coupled to high resolution mass spectrometry (UHPLC-HRMS). The results showed that three ß-CN variants A1, A2 and I were detected and identified in the milk samples. Five ß-CN phenotypes A1A1, A1A2, A1I, A2A2 and A2I were found with percentages of 0.035, 0.400, 0.059, 0.482 and 0.024, respectively. The higher proportion of ß-CN phenotype A2A2 compared to other phenotypes was expected because of changes in dairy cow breeding in Phu Dong, Vietnam.


Asunto(s)
Caseínas/análisis , Cromatografía Líquida de Alta Presión/métodos , Espectrometría de Masas/métodos , Polimorfismo Genético , Animales , Caseínas/genética , Bovinos , Femenino , Técnicas de Genotipaje/métodos , Leche/química , Fenotipo
17.
Gene ; 724: 144153, 2020 Jan 15.
Artículo en Inglés | MEDLINE | ID: mdl-31610221

RESUMEN

As heroin and morphine produce reactive oxygen species and down-regulate several genes involved in cellular detoxification and DNA repair pathways, neurons experience DNA damage. Xeroderma pigmentosum complementation group C (XPC, OMIM: 613208) gene, which is expressed in the brain, is one of the central genes in the nucleotide excision repair pathway. Three common XPC polymorphisms (Lys939Gln, Ala499Val and PAT) are associated with reduced DNA repair capacity. In this study, the relationship between these polymorphisms and the risk of heroin dependency (HD), as well as, age of first use (AFU) for illegal drugs was investigated on 795 healthy individuals and 442 heroin dependent patients. Statistical analyses indicated that there was no significant association between the XPC polymorphisms and the risk of HD. The haplotypic frequencies of the polymorphisms showed significant difference between HD patients and healthy controls (χ2 = 16.38, df = 6, P = 0.012). Analysis indicated that the "Ala + Gln" haplotype increased the HD risk more than the "Ala + Lys" haplotype (OR = 4.21, 95% CI = 1.29-13.7, P = 0.017). In Cox proportional model, there was significant association between AFU and the Ala499Val polymorphism (Hazard ratio = 1.53, 95% CI: 1.02-2.92, P = 0.036). To investigate the effect of the linkage between the polymorphic sites, we compared the AFU among two common diplotypes ("Ala - Lys/Ala - Lys" and "Val - Lys/Val - Lys"). Statistical analysis indicated that AFU was significantly lower in "Val - Lys/Val - Lys" diplotype (t = 2.63, df = 49, P = 0.011). The present findings suggest that the XPC is a candidate polymorphic locus for AFU.


Asunto(s)
Proteínas de Unión al ADN/genética , Dependencia de Heroína/genética , Polimorfismo Genético , Adolescente , Adulto , Factores de Edad , Estudios de Casos y Controles , Femenino , Haplotipos , Humanos , Irán , Estimación de Kaplan-Meier , Desequilibrio de Ligamiento , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple
18.
Arch Oral Biol ; 109: 104555, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31550570

RESUMEN

OBJECTIVES: To assess the association between the promoter region of serotonin transporter (5-HTTLPR) gene polymorphism and recurrent aphthous stomatitis (RAS) occurrence. DESIGNS: We performed the meta-analysis to determine the potential association between 5-HTTLPR polymorphism and RAS. We retrieved revelant studies from the PubMed, Scopus, Embase, Web of Science and Cochrane Library databases up to January 2019. Data were analyzed for odd ratios with 95% confidence intervals using Revman 5.3 software. RESULTS: There were 4 studies in the meta-analysis, which included 291 RAS cases and 286 controls. It indicated a substantially augmented threat of RAS with respect to S vs. L (P =  0.005), SS vs. LL+LS (P < 0.0001) and SS vs. LL models (P < 0.00001), respectively. No heterogeneity was found between studies in all comparisons. CONCLUSIONS: The current meta-analysis provides evidence to prove the association between 5-HTTLPR polymorphism and RAS. Further studies should be performed to clarify the biochemical function and pathological role of 5-HTTLPR in the risk of RAS.


Asunto(s)
Regiones Promotoras Genéticas , Proteínas de Transporte de Serotonina en la Membrana Plasmática/genética , Estomatitis Aftosa/genética , Genotipo , Humanos , Polimorfismo Genético , Recurrencia
19.
J Clin Pathol ; 73(1): 14-16, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31434698

RESUMEN

AIMS: Untranslated regions (UTRs) play an important role in post-transcriptional regulation of gene expression, including by modulating messenger RNA (mRNA) transport out of the nucleus, translation efficiency, subcellular localisation and stability. Any mutation in this region could alter the stability of mRNA and thereby affect protein synthesis. We analysed if a mutation located in the α complex protected region of the α1 globin gene could cause non-deletional α-thalassaemia by affecting post-transcriptional stability (mRNA stability). METHODS: A total of 14 patients without anaemia, normal or slight microcytosis and hypochromia (medium concentration haemoglobin [MCH] <27 pg) were studied. Haemoglobin subtypes were screened using capillary zone electrophoresis and ion-exchange high-performance liquid chromatography (VARIANT II ß-Thalassaemia Short Program). The most common α-globin mutations were identified by multiplex PCR (Alpha-Globin StripAssay kit) and the molecular characterisation by automatic sequencing of alpha globin genes. RESULTS: All of them shown a novel transversion mutation in nt 778 (C>A), which is located in the 3' UTR in the α complex protected region [HBA1: c.*+46C>A]. CONCLUSIONS: This mutation is in the αRNAmin binding site, so a single nucleotide substitution in this region can decrease mRNA stability by potentially compromising the binding of α-complex protein to αRNAmin, favouring the decay of α-globin mRNA via erythroid cell-enriched endoribonuclease cleavage. In this case, it is a non-deletional α-thalassaemia. However, in silico and empirical studies predicted that it could be a silent polymorphism. Functional studies should be carried out to confirm whether it is a pathological mutation or a silent polymorphism.


Asunto(s)
Regiones no Traducidas 3' , Mutación , Polimorfismo Genético , Estabilidad del ARN , ARN Mensajero/genética , Globinas alfa/genética , Talasemia alfa/genética , Adolescente , Adulto , Estudios de Casos y Controles , Niño , Preescolar , Análisis Mutacional de ADN/métodos , Femenino , Predisposición Genética a la Enfermedad , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa Multiplex , Fenotipo , ARN Mensajero/metabolismo , Factores de Riesgo , Globinas alfa/metabolismo , Talasemia alfa/sangre , Talasemia alfa/diagnóstico
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