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1.
J Otolaryngol Head Neck Surg ; 52(1): 13, 2023 Feb 12.
Artículo en Inglés | MEDLINE | ID: mdl-36782309

RESUMEN

BACKGROUND: The glucocorticoid receptor gene (NR3C1) encodes the receptor to which cortisol and other glucocorticoids bind. Steroids in either oral, intratympanic, or intravascular forms are the treatment of choice for sudden sensorineural hearing loss (SSNHL), but the outcome varies. The outcomes of SSNHL have been investigated for related factors, including age, initial hearing loss severity and pattern, vertigo, genetic variations, and the time between onset and treatment. The objective of the present study was to analyze the association of genetic polymorphisms of NR3C1 with the outcomes of SSNHL. MATERIALS AND METHODS: We conducted a comparison study of 93 cases with a poor outcome (control) and 100 cases with a good outcome (case) in SSNHL patients. Six single nucleotide polymorphisms (SNPs) were selected. The genotypes were determined using TaqMan technology. RESULTS: The heterozygous AT genotype of rs17100289 was associated with a poor outcome in comparison with the major homozygous AA genotype after adjustments for age and sex (OR = 0.50; 95% CI 0.26-0.95; P = 0.035) in SSNHL patients. The CT genotype of rs4912912 was also associated with a poor outcome compared with the major homozygous TT genotype after the adjustments (OR = 0.47; 95% CI 0.24-0.92; P = 0.026). CONCLUSION: These results suggest that NR3C1 genetic polymorphisms may influence the outcomes of SSNHL.


Asunto(s)
Pérdida Auditiva Sensorineural , Pérdida Auditiva Súbita , Receptores de Glucocorticoides , Humanos , Genotipo , Glucocorticoides/uso terapéutico , Pérdida Auditiva Sensorineural/genética , Pérdida Auditiva Súbita/tratamiento farmacológico , Pérdida Auditiva Súbita/genética , Polimorfismo de Nucleótido Simple , Receptores de Glucocorticoides/genética , Resultado del Tratamiento
2.
Microbes Infect ; 25(5): 105098, 2023 06.
Artículo en Inglés | MEDLINE | ID: mdl-36621527

RESUMEN

Three Orientia tsutsugamushi genotypic groups belonging to two prototypes (Gilliam and Karp) were identified in scrub typhus patients from Guangxi, Southwest China. Fever, headache, pneumonia, fatigue, chill, and anorexia were the most common clinical signs. Frequent recombination was observed for their 47-kDa gene compared to 56-kDa and 16S genes. Furthermore, patients infected with the Gilliam prototype represent a much higher proportion of pneumonia (6/6, 100%) than those infected with the Karp prototype (4/8, 50%) (p-value = 0.040). This discrepancy is consistent with recent animal tests on rhesus and may indicate different virulence and tissue tropism between different O. tsutsugamushi prototypes.


Asunto(s)
Orientia tsutsugamushi , Tifus por Ácaros , Animales , Orientia tsutsugamushi/genética , Tifus por Ácaros/epidemiología , China/epidemiología , Genotipo , Recombinación Genética
3.
Eur Arch Otorhinolaryngol ; 280(3): 1111-1117, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-35925401

RESUMEN

PURPOSE: To analyze the prevalence and associations of facial canal dehiscence (FCD), dural exposure, and labyrinthine fistula in chronic otitis media (COM) with and without cholesteatoma. METHODS: This was a retrospective study performed in an academic medical center. Patients who received tympanoplasty with mastoidectomy for COM with and without cholesteatoma were included. The prevalence of FCD, dural exposure, and labyrinthine fistula in COM with and without cholesteatoma (mastoiditis) and their relationships were analyzed. RESULTS: A total of 189 patients, including 107 (56.6%) females and 82 (43.4%) males, with 191 ears were included. There were 149 cases (78.0%) of cholesteatoma and 42 patients (22.0%) with mastoiditis. FCD was noted in 27.5% of patients with cholesteatoma and 9.5% of patients with mastoiditis. Dural exposure was found in 21 patients (14.1%) with cholesteatoma and 4 patients (9.5%) with mastoiditis. Eleven patients (7.4%) with cholesteatoma and 1 patient (2.4%) with mastoiditis had labyrinthine fistula. Patients with a labyrinthine fistula had nearly a fivefold greater chance (OR = 4.924, 95% CI = 1.355-17.896, p = 0.015) of having FCD than those without a fistula. There was a positive correlation between dural exposure and labyrinthine fistula (P = 0.011, Fisher's exact test). CONCLUSION: FCD, dural exposure, and labyrinthine fistula are common complications in COM. These complications are more frequently observed in patients with cholesteatoma than in patients with mastoiditis. Surgeons should pay more attention to the treatment of COM.


Asunto(s)
Colesteatoma del Oído Medio , Colesteatoma , Fístula , Enfermedades del Laberinto , Mastoiditis , Otitis Media , Masculino , Femenino , Humanos , Colesteatoma del Oído Medio/complicaciones , Colesteatoma del Oído Medio/cirugía , Colesteatoma del Oído Medio/epidemiología , Mastoiditis/complicaciones , Estudios Retrospectivos , Colesteatoma/complicaciones , Otitis Media/complicaciones , Otitis Media/cirugía , Fístula/epidemiología , Fístula/etiología , Fístula/cirugía , Enfermedad Crónica , Enfermedades del Laberinto/epidemiología , Enfermedades del Laberinto/etiología , Enfermedades del Laberinto/cirugía
4.
J Otolaryngol Head Neck Surg ; 50(1): 69, 2021 Dec 05.
Artículo en Inglés | MEDLINE | ID: mdl-34865658

RESUMEN

BACKGROUND: Sudden sensorineural hearing loss (SSNHL) is a disease with an unknown etiology; damage to the auditory nerve from inflammation due to viral infection or vascular incidents has been implicated. According to several studies, cytokines, including interleukins, are associated with SSNHL in terms of serum expression and genetic polymorphisms. Interleukin-1 (IL-1) plays a key role in inflammation and may be associated with SSNHL. This study analyzed the association of single nucleotide polymorphisms (SNPs) of IL-1 receptor (IL-1R) genes with SSNHL in Taiwan. METHODS: We conducted a case-control study involving 401 patients with SSNHL and 730 healthy controls. Four SNPs (IL-1R type 1 gene [IL1R1] [rs3917225 and rs2234650] and IL-1R type 2 gene [IL1R2] [rs4141134 and rs2071008]) were selected. The genotypes were determined using the TaqMan assay. The Hardy-Weinberg equilibrium (HWE) was tested for each SNP, and genetic effects were evaluated. RESULTS: The TT genotype of rs2234650 had an adjusted odds ratio (OR) of 2.988 (95% confidence interval [95% CI] 1.27-6.82) (P = 0.012) compared with the CC genotype in patients with SSNHL. The SNP rs2234650 was associated with SSNHL in the recessive model (TT vs. CC + CT, P = 0.0206, OR = 2.681). The CT genotype of rs4141134 had an adjusted OR of 3.860 (95% CI 2.01-7.44; P < 0.0001) compared with the TT genotype, in patients with SSNHL. The SNP rs4141134 was associated with SSNHL under the dominant model (CC + CT vs. TT, P < 0.0001, OR = 4.087). CONCLUSION: These findings suggest that IL1R1 and IL1R2 gene polymorphisms may contribute to an increased risk of SSNHL in Taiwan.


Asunto(s)
Pérdida Auditiva Sensorineural , Pérdida Auditiva Súbita , Receptores Tipo II de Interleucina-1/genética , Receptores Tipo I de Interleucina-1/genética , Pueblo Asiatico/genética , Estudios de Casos y Controles , Pérdida Auditiva Sensorineural/genética , Pérdida Auditiva Súbita/genética , Humanos , Polimorfismo de Nucleótido Simple , Factores de Riesgo
5.
Pulm Pharmacol Ther ; 69: 102048, 2021 08.
Artículo en Inglés | MEDLINE | ID: mdl-34082109

RESUMEN

Antizyme inhibitors 2 (AZIN2) was found to be associated with poor prognosis of patients with rectal cancer. However, no studies have reported whether AZIN2 functions in non-small cell lung cancer (NSCLC). This study aimed to investigate the role of AZIN2 in cisplatin (DDP) resistance in NSCLC. We established DDP resistant A549 and H1299 cell lines. The transcriptional and translational expression levels were examined using quantitative real-time polymerase chain reaction and western blot. Cell apoptosis was evaluated by caspase-3 activity and nucleosome ELISA assays. Luciferase reporter assay was employed to evaluate the impact of hypoxia-inducible factor (HIF-1α) on AZIN2 transcription. AZIN2 expression was found to be associated with DDP resistance and poor prognosis in patients with NSCLC. AZIN2 overexpression promoted cell viability, colony formation, and reduced cell apoptosis in H1299 cells and A549 upon DDP treatment. Correspondingly, AZIN2 knockdown significantly inhibited cell viability and colony formation, and increased cell apoptosis upon DDP treatment. Interestingly, AZIN2 expression in NSCLC cells was significantly induced by hypoxia condition. The occupancy of HIF-1α, an important regulator of the hypoxia response, remarkably enriched at the promoter region of AZIN2 under hypoxia condition. In addition, AZIN2 overexpression resulted in epithelial-mesenchymal transition (EMT). The results suggested that hypoxia-induced AZIN2 high expression may contribute to DDP resistance development by promoting the EMT.


Asunto(s)
Antineoplásicos , Carcinoma de Pulmón de Células no Pequeñas , Neoplasias Pulmonares , Antineoplásicos/farmacología , Antineoplásicos/uso terapéutico , Apoptosis , Carcinoma de Pulmón de Células no Pequeñas/tratamiento farmacológico , Carcinoma de Pulmón de Células no Pequeñas/genética , Línea Celular Tumoral , Cisplatino/farmacología , Cisplatino/uso terapéutico , Resistencia a Antineoplásicos , Transición Epitelial-Mesenquimal , Regulación Neoplásica de la Expresión Génica , Humanos , Hipoxia , Neoplasias Pulmonares/tratamiento farmacológico , Neoplasias Pulmonares/genética
6.
J Otolaryngol Head Neck Surg ; 50(1): 31, 2021 Apr 29.
Artículo en Inglés | MEDLINE | ID: mdl-33926545

RESUMEN

BACKGROUND: Age-related hearing impairment (ARHI) is a major disability among the elderly population. Heat shock proteins (HSPs) were found to be associated with ARHI in animal studies. The aim of this study was to analyze the associations of single nucleotide polymorphisms (SNPs) of HSP genes with ARHI in an elderly population in Taiwan. METHODS: Participants ≥65 years of age were recruited for audiometric tests and genetic analyses. The pure tone average (PTA) of the better hearing ear was calculated for ARHI evaluation. The associations of HSPA1L (rs2075800 and rs2227956), HSPA1A (rs1043618) and HSPA1B (rs2763979) with ARHI were analyzed in 146 ARHI-susceptible (cases) and 146 ARHI-resistant (controls) participants. RESULTS: The "T" allele of HSPA1B rs2763979 showed a decreased risk of ARHI. The "TT" genotype of rs2763979 also showed a decreased risk of ARHI in the dominant hereditary model. For HSPA1L (rs2075800 and rs2227956) and HSPA1A (rs1043618), the haplotype "CAG" was related to a decreased risk of ARHI. CONCLUSION: These findings suggest that HSP70 polymorphisms are associated with susceptibility to ARHI in the elderly population.


Asunto(s)
Proteínas HSP70 de Choque Térmico/genética , Pérdida Auditiva/genética , Polimorfismo de Nucleótido Simple , Anciano , Anciano de 80 o más Años , Envejecimiento , Alelos , Pueblo Asiatico/genética , Estudios de Casos y Controles , Femenino , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Masculino , Taiwán
7.
J Otolaryngol Head Neck Surg ; 49(1): 16, 2020 Apr 06.
Artículo en Inglés | MEDLINE | ID: mdl-32252823

RESUMEN

BACKGROUND: Age-related hearing impairment (ARHI) is a major disability among the elder population. Chronic inflammation is an important factor in the development of ARHI. Interleukin-1 (IL-1) plays a key role in inflammation and may be associated with ARHI. The aim of this study is to analyze the associations of single nucleotide polymorphisms (SNPs) of IL-1 receptor genes with ARHI in an elderly population in Taiwan. METHOD: Participants ≥65 years of age were recruited for audiometric tests and genetic analyses. The bilateral pure-tone average (PTA) of high-tone hearing levels was calculated for ARHI evaluation. The associations of SNPs of the IL-1 receptor type 1 gene (IL1R1) (rs3917225 and rs2234650) and type 2 gene (IL1R2) (rs4141134 and rs2071008) with ARHI were analyzed in 182 ARHI-susceptible (case) and 176 ARHI-resistant (control) participants. RESULTS: The G allele of IL1R1 rs3917225 showed a decreased risk of ARHI after adjustments for sex, age, and noise exposure. The GG genotype of IL1R1 rs3917225 in all hereditary models and the TT genotype of IL1R2 rs2071008 in the recessive model also showed decreased risks of ARHI after adjustments. CONCLUSION: These findings suggest that IL1R1 and IL1R2 polymorphisms may contribute to the decreased risk of ARHI in the elderly population.


Asunto(s)
Pérdida Auditiva/genética , Polimorfismo de Nucleótido Simple , Receptores Tipo II de Interleucina-1/genética , Receptores Tipo I de Interleucina-1/genética , Anciano , Envejecimiento , Pueblo Asiatico/genética , Audiometría de Tonos Puros , Estudios de Casos y Controles , Femenino , Genotipo , Humanos , Masculino , Taiwán
8.
Int J Mol Med ; 44(5): 1811-1823, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31485604

RESUMEN

Sepsis, a systemic inflammatory response syndrome induced by infection, is a common complication of trauma, burns, postoperative infection and critical disease, and is characterized by an acute onset and high fatality rate. The aim of the present study was to explore the possible molecular mechanisms of microRNA­200a­3p (miRNA­200a­3p) on inflammation during sepsis. Reverse transcription­quantitative PCR and gene microarray were used to measure the expression of miRNA­200a­3p. Tumor necrosis factor­α, interleukin (IL)­1ß, IL­6 and IL­18 were searched by ELISA. The related proteins expression was measured using western blotting. The expression of miRNA­200a­3p was markedly higher in the sepsis model when compared with the normal control group. In addition, the expression of miRNA­200a­3p was upregulated by the miRNA­200a­3p plasmid in human brain microvascular endothelial cells treated with lipopolysaccharide, which further induced inflammation via the induction of NLR family pyrin domain containing 3 (NLRP3) and suppression of Kelch like ECH associated protein (Keap)­1/nuclear factor erythroid 2 like 2 (Nrf2)/heme oxygenase (HO)­1. The inhibition of Keap1/Nrf2/HO­1 attenuated the effects of anti­miRNA­200a­3p on inflammation. However, the inhibition of NLRP3 attenuated the effects of miRNA­200a­3p on inflammation. In conclusion, to the best of our knowledge, the results of the present study demonstrated for the first time that overexpression of miRNA­200a­3p promoted inflammation in sepsis­induced brain injury through reactive oxygen species­induced NLRP3.


Asunto(s)
Lesiones Encefálicas/metabolismo , Inflamación/metabolismo , MicroARNs/metabolismo , Proteína con Dominio Pirina 3 de la Familia NLR/metabolismo , Especies Reactivas de Oxígeno/metabolismo , Sepsis/metabolismo , Animales , Encéfalo/metabolismo , Células Cultivadas , Células Endoteliales/metabolismo , Humanos , Proteína 1 Asociada A ECH Tipo Kelch/metabolismo , Masculino , Ratones , Ratones Endogámicos C57BL , Transducción de Señal/fisiología , Regulación hacia Arriba/fisiología
9.
Biosci Rep ; 38(6)2018 12 21.
Artículo en Inglés | MEDLINE | ID: mdl-30355652

RESUMEN

A preferred reporting items for systematic reviews and meta-analyses-compliant meta-analysis was conducted to test the association of metabolic syndrome and its components with the risk of chronic obstructive pulmonary disease (COPD) based on observational studies. Literature retrieval, article selection and data extraction were done by two researchers independently. Total 16 articles (20 independent studies) were analyzed with 3915 COPD patients and 25,790 control participants. Overall analysis indicated that metabolic syndrome was significantly associated with 1.53-fold (95% confidence interval [CI]: 1.23-1.9, P<0.001) increased risk of COPD, with moderate heterogeneity (I2 = 74.3%). Of four metabolic components, hypertension was significantly associated with 1.55-fold (95% CI: 1.14-2.11, P=0.005) increased risk, and averaged levels of systolic blood pressure (weighted mean difference [WMD] = 3.626 mmHg, 95% CI: 1.537-5.714, P<0.001) and glucose (WMD = 2.976 mmol/l, 95% CI: 0.141-5.812; P=0.04) were significantly higher in COPD patients than in control participants, yet that of body mass index (WMD = -1.463 kg/m2, 95% CI: -2.716 to -0.211, P=0.022) were significantly lower. Gender, race, source of control participants, matched status and sample size were identified as accountable factors for significant heterogeneity. Altogether, the presence of metabolic syndrome, especially its component hypertension, was associated with significantly increased risk of COPD.


Asunto(s)
Hipertensión/epidemiología , Síndrome Metabólico/epidemiología , Enfermedad Pulmonar Obstructiva Crónica/epidemiología , Presión Sanguínea , Índice de Masa Corporal , Humanos , Hipertensión/complicaciones , Hipertensión/patología , Síndrome Metabólico/complicaciones , Síndrome Metabólico/patología , Enfermedad Pulmonar Obstructiva Crónica/complicaciones , Enfermedad Pulmonar Obstructiva Crónica/patología
10.
J Int Adv Otol ; 14(2): 170-175, 2018 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-30100543

RESUMEN

OBJECTIVES: Age-related hearing impairment (ARHI) is a major disability among the elderly. This study aimed to analyze the association of single nucleotide polymorphisms (SNPs) of metabotropic glutamate receptor 7 (GRM7) gene with ARHI in an elderly population in Taiwan. MATERIALS AND METHODS: This was a community-based study performed in a metropolitan hospital. Participants ≥65 years of age were recruited. Participants with a pure tone average (PTA) of speech frequencies in the better ear of >35 decibel hearing level (dBHL) were classified into the case group, whereas those with PTA ≤25 dBHL were classified into the control group. The association of SNPs rs11928865, rs1353828, rs9814809, and rs9880404 with ARHI was analyzed. RESULTS: In 106 cases and 190 controls, alleles of all SNPs were found not to be associated with ARHI. The genotype of rs9880404 was found to be associated with ARHI in a dominant pattern, but the genotypes of rs11928865, rs1353828, and rs9814809 were found not to be associated with ARHI. CONCLUSION: GRM7 SNPs are associated with susceptibility to ARHI, but the significance of this finding in a Taiwanese population differed from that observed in European studies. Further studies may help to determine Taiwanese (Asian)-specific SNPs associated with ARHI.


Asunto(s)
Pérdida Auditiva/genética , Polimorfismo de Nucleótido Simple/genética , Receptores de Glutamato Metabotrópico/genética , Factores de Edad , Anciano , Anciano de 80 o más Años , Alelos , Pueblo Asiatico/etnología , Pueblo Asiatico/genética , Audiometría de Tonos Puros/métodos , Estudios de Casos y Controles , Femenino , Genotipo , Pérdida Auditiva/diagnóstico , Pérdida Auditiva/fisiopatología , Humanos , Masculino , Taiwán/epidemiología
11.
Sci Rep ; 7(1): 17207, 2017 12 08.
Artículo en Inglés | MEDLINE | ID: mdl-29222432

RESUMEN

Diabetes mellitus is frequently comorbid with hypertension, which is approximately twice as common as diabetes mellitus in China. We designed a case-control association study to inspect the susceptibility of the receptor for advanced glycation end-products (RAGE) gene 6 variants to type 2 diabetes mellitus (T2DM) in 2199 patients with primary hypertension (1252 diabetic cases and 947 nondiabetic controls). The genotypes/alleles of -429T > C and 82Gly > Ser variants differed significantly between the two groups, and their associations with T2DM were significant after Bonferroni correction. Two variants, -374T > A and I/D, showed only marginal associations with T2DM. Haplotype analysis of above 4 significant variants indicated that a low-penetrance haplotype simultaneously bearing -429C and 82Ser alleles was overrepresented in cases relative to controls (4.75% vs. 1.72%, P < 0.001). Moreover, the predictive capability of 6 variants was significantly superior to available risk factors, with better goodness-of-fit. A predictive nomogram of 4 baseline risk factors and 2 variants of statistical significance was structured, with a good predictive accuracy (C-index = 0.761, P < 0.001). Taken together, our findings highlighted a contributory role of the RAGE gene, especially its two functional variants -429T > C and 82Gly > Ser, in susceptibility to T2DM in primary hypertensive patients, which may aid early detection and risk assessment for high-risk individuals.


Asunto(s)
Diabetes Mellitus Tipo 2/complicaciones , Diabetes Mellitus Tipo 2/genética , Predisposición Genética a la Enfermedad/genética , Hipertensión/complicaciones , Polimorfismo de Nucleótido Simple , Receptor para Productos Finales de Glicación Avanzada/genética , Alelos , Femenino , Haplotipos , Humanos , Masculino , Persona de Mediana Edad
12.
PLoS One ; 12(5): e0174394, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28472039

RESUMEN

BACKGROUND & AIMS: Identification of disease severity remains a challenge in the management of non-alcoholic steatohepatitis (NASH). Cytokeratin-18 (CK18), is a recently developed non-invasive biomarker for NASH. We aimed to assess the performance of CK18 in disease severity prediction among Taiwanese NASH patients. METHODS: A total of 76 biopsy-proven NASH patients (54 males, age = 41.0 ± 13.5 years) were consecutively recruited. The optimal cutoff values of CK18 for each stage of fibrosis were correlated with their histopathological manifestations. RESULTS: There were 23 (30.3%) patients of Metavir fibrosis stage 0 (F0), 32 (42.1%) patients of F1, 14 (18.4%) patients of F2, and 7 (9.2%) patients of F3-4, respectively. The CK18 levels among those patients of F0, F1, F2, F3-4 were 86.7 ± 75.6 U/L, 122.4 ± 123.8 U/L, 160.7 ± 120.4 U/L, and 507.3 ± 343 U/L, respectively (trend for P<0.001). The adjusted optimal cutoff value for F2 prediction was 312.5 U/L, yielding the sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and the accuracy of 96.4%, 28.6%, 77.9%, 75%, and 77.6%, respectively (P = 0.009). For the prediction of advanced fibrosis (F3-4), the adjusted optimal cutoff value was 374.5 U/L, yielding the sensitivity, specificity, PPV, NPV, and the accuracy of 97.1%, 54.1%, 95.7%, 66.7%, and 77.6%, respectively (P = 0.003). Among those patients without hyperuricemia, the PPV, NPV, and accuracy of CK18 reached 100%, 95.8%, and 96%, respectively (P<0.001). CONCLUSIONS: CK18 combined with uric acid measurement is a promising non-invasive biomarker for prediction of disease severity in NASH patients. TRIAL REGISTRATION: ClinicalTrials.gov NCT01068444.


Asunto(s)
Biomarcadores/metabolismo , Queratina-18/metabolismo , Enfermedad del Hígado Graso no Alcohólico/patología , Ácido Úrico/metabolismo , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Enfermedad del Hígado Graso no Alcohólico/diagnóstico , Estudios Prospectivos , Sensibilidad y Especificidad , Índice de Severidad de la Enfermedad , Taiwán
13.
Oncotarget ; 8(28): 46480-46490, 2017 Jul 11.
Artículo en Inglés | MEDLINE | ID: mdl-28404887

RESUMEN

This meta-analysis was implemented to test the association of a missense mutation, Trp64Arg, in ß3-adrenoreceptor-encoding gene (ADRB3) with both hypertension risk and blood pressure (BP) changes. A systematic search of three publicly-available databases was launched to look for articles published as of December 2016. Qualification appraisal and data extraction were independently done by two researchers. Pooled estimates were expressed as odds ratio (OR) or weighted mean difference (WMD), and their 95% confidence intervals (95% CIs). There were separately 21 (3750/4225 patients/controls) and 17 (6100 subjects) individual studies for hypertension risk and BP changes. Integral analyses revealed that Trp64Arg mutation was associated with the significantly increased risk of hypertension, and particularly, the 64Trp/64Arg heterozygote carriers were 1.23-times more likely to develop hypertension compared with the 64Trp/64Trp homozygote carriers (OR = 1.23, 95% CI: 1.02~1.46, P = 0.021). Publication bias was extremely low for all integral comparisons. In stratified analyses, significance was spotted in populations of Chinese descent, in retrospective studies, in hospital-based studies, in age-matched case-control studies, in studies enrolling patients with mean body mass index < 25 kg/m2 and in studies with total sample size ≥ 240. Heterogeneity was improved for most stratified comparisons. Further in hypertensive patients, the 64Trp/64Arg heterozygote carriers had significantly higher systolic (WMD = 0.87 mmHg, 95% CI: 0.39~1.35, P < 0.001) and diastolic (WMD = 0.88 mmHg, 95% CI: 0.59~1.17, P < 0.001) BP than 64Trp/64Trp homozygote carriers. Altogether, ADRB3 gene Trp64Arg mutation was significantly associated with an increased predisposition toward hypertension and elevated systolic/diastolic BP in hypertensive patients, suggesting that Trp64Arg is an important hypertension-susceptibility marker.


Asunto(s)
Sustitución de Aminoácidos , Presión Sanguínea , Predisposición Genética a la Enfermedad , Hipertensión/genética , Hipertensión/fisiopatología , Mutación , Receptores Adrenérgicos beta 3/genética , Alelos , Biomarcadores , Femenino , Estudios de Asociación Genética , Genotipo , Humanos , Hipertensión/diagnóstico , Masculino , Oportunidad Relativa , Fenotipo , Riesgo
14.
Hepatol Res ; 47(13): 1383-1389, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-28225575

RESUMEN

AIM: 25-Hydroxy vitamin D (Vit D) plays a role in treatment outcomes in chronic hepatitis C virus (HCV) infection. We aimed to clarify whether HCV replication is inhibited by Vit D in HCV replicon cells. Clinical implication was assessed for rapid virological response (RVR) and sustained virological response (SVR) among those patients receiving antiviral therapy. METHODS: Cell survival and viral loads were observed in Con1 (genotype 1b) and J6/JFH (genotype 2a) cells treated with different doses of Vit D. Three groups of patients with different treatment responses were recruited to assess their Vit D levels: group A, RVR-/SVR-; group B, RVR+/SVR-; and group C, RVR+/SVR+. RESULTS: The viral load of Con1 cells decreased by 69%, 80%, and 86% following treatment with 1 µM, 5 µM, and 10 µM Vit D, respectively (P < 0.0001). In J6/JFH cells, it decreased by 12%, 55%, and 80.5% following treatment with 1 µM, 5 µM, and 10 µM Vit D, respectively (P < 0.0001). There was a significant increase of Vit D between chronic hepatitis C groups, ranging from 4.4 ± 5.6 ng/mL in group A (n = 44), to 17.2 ± 11.6 ng/mL in group B (n = 44), and 32.5 ± 37.5 ng/mL of group C (n = 44) (P < 0.001). Advanced fibrosis (odds ratio = 0.13, 95% confidence interval = 0.04-0.41, P < 0.001) and Vit D deficiency (<10 ng/mL) (odds ratio = 0.11, 95% confidence interval = 0.03-0.43, P = 0.001) were predictive of SVR in the multivariate regression analysis. CONCLUSION: Vitamin D decreases HCV replication and also contributes to early treatment viral kinetics.

15.
Sci Rep ; 6: 29161, 2016 07 04.
Artículo en Inglés | MEDLINE | ID: mdl-27374782

RESUMEN

The quantized anomalous Hall effect (QAHE) have been theoretically predicted and experimentally confirmed in magnetic topological insulators (TI), but dissipative channels resulted by small-size band gap and weak ferromagnetism make QAHE be measured only at extremely low temperature (<0.1 K). Through density functional theory calculations, we systemically study of the magnetic properties and electronic structures of Mn doped Bi2Se3 with in-plane and out-of-plane strains. It is found that out-of-plane tensile strain not only improve ferromagnetism, but also enlarge Dirac-mass gap (up to 65.6 meV under 6% strain, which is higher than the thermal motion energy at room temperature ~26 meV) in the Mn doped Bi2Se3. Furthermore, the underlying mechanisms of these tunable properties are also discussed. This work provides a new route to realize high-temperature QAHE and paves the way towards novel quantum electronic device applications.

16.
Sci Rep ; 6: 25290, 2016 05 04.
Artículo en Inglés | MEDLINE | ID: mdl-27142475

RESUMEN

Serine/threonine kinase 39 gene (STK39) is one of the promising hypertension-susceptibility genes identified by a genome-wide association study in 2009, whereas subsequent validation in other ethnic groups is unsatisfactory, with inconsistent and inconclusive findings. We therefore aimed to meta-analytically assess the risk prediction of STK39 three polymorphisms, rs6749447, rs35929607 and rs3754777, for primary hypertension. Literature search and data collection were independently completed by two authors. Nine articles were pooled in this study. Overall analyses failed to see any significant associations of rs6749447, rs35929607 and rs3754777 with hypertension risk (odds ratio: 1.27, 0.95 and 1.21; P = 0.270, 0.507 and 0.153, respectively), and there was evident heterogeneity for three comparisons (I(2) > 80%). Meta-regression analyses indicated that smoking was a significant risk factor for the association of rs3754777 with hypertension (P = 0.017). As reflected by the Begg's and Filled funnel plots, as well as Egger's tests, there were low probabilities of publication bias. In conclusion, our meta-analytical findings suggest that STK39 might not be a hypertension-susceptibility gene.


Asunto(s)
Predisposición Genética a la Enfermedad , Hipertensión/genética , Polimorfismo de Nucleótido Simple , Proteínas Serina-Treonina Quinasas/genética , Humanos
17.
Sci Rep ; 5: 11901, 2015 Jul 03.
Artículo en Inglés | MEDLINE | ID: mdl-26139292

RESUMEN

The influence of patatin-like phospholipase domain-containing 3 (PNPLA3) genetic variants in the development of liver steatosis in Asian chronic hepatitis C patients remains elusive. A total of 1018 biopsy-proven chronic hepatitis C patients were enrolled for evaluation. The proportions of PNPLA3 rs738409 GG genotype carriage were 7.8% (44/563), 15.8% (58/367) and 19.3% (17/88) in patients with no (liver fat content < 5%), mild (5-33%) and moderate/severe (> 66%) hepatic steatosis, respectively (trend P < 0.001). Stepwise logistic regression analysis revealed that the strongest factor independently associated with steatosis was the carriage of the PNPLA3 rs738409 GG genotype (odds ratio [OR]/95% confidence intervals [CI]:2.34/1.557-3.515, P < 0.001). Among the patients with BMI < 24 kg/m(2), carriage of the rs738409 GG genotype was the only factor associated with hepatic steatosis (OR/CI:3.44/1.824-6.500, P < 0.001). PNPLA3 genetic variants had minimal effects on hepatic steatosis among overweight or obese patients. Compared to patients with BMI < 24 kg/m(2)/non-GG genotype, those with BMI >24 kg/m(2)/GG genotype were more likely to have hepatic steatosis (OR/CI:3.87/2.292-6.524, P < 0.001). In conclusions, both PNPLA3 genetic variants and BMI played important roles in hepatic steatosis among Asian chronic hepatitis C patients. However, the genetic effect was mainly restricted to non-obese patients.


Asunto(s)
Hígado Graso/genética , Hepatitis C Crónica/genética , Lipasa/genética , Proteínas de la Membrana/genética , Adulto , Pueblo Asiatico/genética , Índice de Masa Corporal , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Hepatitis C Crónica/complicaciones , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple
18.
J Renin Angiotensin Aldosterone Syst ; 16(4): 1306-13, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25990649

RESUMEN

BACKGROUND AND OBJECTIVE: The gene encoding angiotensin-converting enzyme (ACE) has been implicated in the development of several malignancies. We aimed to meta-analyze the association of ACE gene insertion/deletion (I/D) polymorphism with digestive cancer risk and seek possible sources of between-study heterogeneity. METHODS: Two authors independently assessed eligibility of each retrieved publication and gathered relevant data. Risk estimates were expressed as odds ratio (OR) and 95% confidence interval (CI). RESULTS: Sixteen publications were qualified for analysis, involving 2903 digestive cancer cases and 10,833 controls. Overall analyses failed to show any significance for digestive cancer risk. There was moderate heterogeneity and lower publication bias for overall comparisons. In subgroup analyses, ACE gene II genotype was associated with a 15% reduced risk (OR=0.85, 95% CI: 0.57-1.27, p=0.434) for gastric cancer, but a 16% increased risk (OR=1.16, 95% CI: 0.89-1.52, p=0.273) for colorectal cancer. By source of controls, the I allele appeared to be a protective factor against digestive cancer in population-based studies (OR=0.87, 95% CI: 0.75-1.00, p=0.055) but a risk-conferring factor in hospital-based studies (OR=1.17, 95% CI: 1.01-1.35, p=0.033). CONCLUSION: Our findings suggested that ACE gene I allele might be a protective factor against gastric cancer, necessitating further confirmation in large, population-based studies.


Asunto(s)
Neoplasias del Sistema Digestivo/enzimología , Neoplasias del Sistema Digestivo/genética , Predisposición Genética a la Enfermedad , Mutación INDEL/genética , Peptidil-Dipeptidasa A/genética , Polimorfismo Genético , Anciano , Alelos , Femenino , Estudios de Asociación Genética , Humanos , Masculino , Sesgo de Publicación , Análisis de Regresión , Factores de Riesgo
19.
J Hepatol ; 62(3): 512-8, 2015 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-25457210

RESUMEN

BACKGROUND & AIMS: Genetic variants of patatin-like phospholipase domain-containing 3 (PNPLA3) and diabetes are associated with liver disease severity, in patients with chronic hepatitis C (CHC) infection. We aimed at exploring their interaction in determining hepatitis C virus (HCV)-related liver fibrosis. METHODS: The PNPLA3 genetic polymorphism at rs738409 was verified in 1077 biopsy-proven CHC patients. Other clinical variables, including diabetes status, were analysed for factors associated with bridging fibrosis. RESULTS: Patients with advanced liver fibrosis had higher proportions of the GG genotype (14.5% vs. 10.4%, p=0.06 in recessive model) and GG/GC genotype carriage (64.0% vs. 56.8%, p=0.03 in dominant model). Stepwise logistic regression analysis revealed that factors predictive of advanced liver fibrosis included age (odds ratio [OR]: 1.02, 95% confidence intervals [CI]: 1.008-1.037, p=0.002), diabetes (OR: 1.81, CI: 1.236-2.653, p=0.002), α-fetoprotein (OR: 1.006, CI: 1.001-1.01, p=0.01), platelet counts (OR: 1.009, CI: 1.006-1.012, p<0.001), and PNPLA3 rs738409 CG/GG genotype (OR: 1.34, CI: 1.006-1.785, p=0.046). When patients were grouped according to their diabetes status, the PNPLA3 genetic variants were associated with advanced liver fibrosis in diabetic patients only, but not in non-diabetic patients. The PNPLA3 gene was the most important predictive factor of bridging fibrosis in diabetic patients, using the recessive model (OR: 4.53, CI: 1.356-15.106, p=0.014) or the dominant model (OR: 2.20, CI: 1.026-4.734, p=0.04). Compared to non-diabetic patients, patients with the diabetes/GG genotype were more likely to have advanced liver fibrosis (OR: 8.79, CI: 2.889-26.719, p<0.001), followed by those with diabetes/non-GG genotype (OR: 1.55, CI: 1.048-2.286, p=0.03). CONCLUSIONS: The effect of PNPLA3 genetic variants in HCV-related advanced liver fibrosis was enhanced in diabetic patients. The strong genetic-environmental interaction contributed to the high risk of advanced liver disease in CHC patients.


Asunto(s)
Complicaciones de la Diabetes/genética , Hepatitis C Crónica/genética , Lipasa/genética , Proteínas de la Membrana/genética , Polimorfismo de Nucleótido Simple , Adulto , Anciano , Estudios de Cohortes , Complicaciones de la Diabetes/patología , Femenino , Genes Dominantes , Genes Recesivos , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Variación Genética , Genotipo , Hepatitis C Crónica/complicaciones , Hepatitis C Crónica/patología , Humanos , Cirrosis Hepática/complicaciones , Cirrosis Hepática/genética , Cirrosis Hepática/patología , Masculino , Persona de Mediana Edad , Modelos Genéticos , Estudios Retrospectivos , Factores de Riesgo
20.
PLoS One ; 9(7): e101790, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25000502

RESUMEN

BACKGROUND: Selection of drug-resistant strains may lead to failure of HBV antiviral therapy. There is little information whether there is detection difference in drug resistant mutations between different viral load assays of HBV. OBJECTIVES: This study is aimed to investigate whether there is drug-resistant strains related detection difference between Abbott RealTime HBV (RealTime) and CobasAmpliPrep/CobasTaqMan HBV assays 2.0 (TaqMan). STUDY DESIGN: One hundred and thirty-four CHB patients who received HBV anti-viral therapy were enrolled. HBV virological markers were tested 3 months apart regularly. Serum HBV DNA levels were determined using the TaqMan and RealTime. YMDD (rt180M and rt204V) mutation was checked in patients who experienced virologic breakthrough (VBT). RESULTS: The correlation of HBV DNA observed between the RealTime and TaqMan was good for all 571 samples (R2 = 0.797; P<0.001). However, the correlation in the 434 samples with HBV DNA level <3 log10 IU/ml was not as good as in all samples (R2 = 0.457). Overall, 21.5% of samples had a detection difference of ≥ 1 log10 IU/ml with 91.9% of these having HBV DNA level <3 log10 IU/ml. Twenty-four patients experienced VBT. Three of these patients had acquired the YMDD mutation and exhibited discordant viral load results between the two methods tested. In each case, persistent HBV DNA was detected by RealTime and undetectable with TaqMan. Of the patients who experienced a VBT and had acquired YMDD mutation, 4.7% had undetectable HBV DNA by TaqMan while all were detectable with RealTime. CONCLUSIONS: RealTime assay is more sensitive and is little impacted by the development of drug resistant mutation.


Asunto(s)
Antivirales/farmacología , Farmacorresistencia Viral/genética , Virus de la Hepatitis B/aislamiento & purificación , Hepatitis B Crónica/virología , Mutación , Reacción en Cadena en Tiempo Real de la Polimerasa/métodos , Carga Viral , Adulto , Antivirales/química , Antivirales/uso terapéutico , ADN Viral/análisis , ADN Viral/genética , Femenino , Virus de la Hepatitis B/genética , Virus de la Hepatitis B/fisiología , Hepatitis B Crónica/tratamiento farmacológico , Humanos , Límite de Detección , Masculino , Persona de Mediana Edad , Nucleósidos/química , Nucleósidos/farmacología , Nucleósidos/uso terapéutico , Nucleótidos/química , Nucleótidos/farmacología , Nucleótidos/uso terapéutico , Polimerasa Taq/metabolismo , Carga Viral/efectos de los fármacos , Carga Viral/genética
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