Genetic association between HOTAIR gene and the risk of cancer: an updated meta-analysis

Several recent investigations show that HOX transcript antisense intergenic RNA (HOTAIR) play an important role in the pathogenesis of different cancers. HOTAIR polymorphisms has been widely studied in the context of association between with the risk of cancer pathogenesis. However, there is no certain conclusion about the role of HOTAIR polymorphisms in different cancer initiation and progression. Our team has selected eligible studies up to 1 May 2019, from several electronic databases, including Web of Science, PubMed, Scopus, and Google Scholar databases. We have included total number of 102 case–control investigations extracted from 41 eligible articles for the current meta-analysis. We calculated pooled odds ratio (ORs) with their corresponding 95% confidence intervals (CIs) using either fixed-effect or random-effect models for quantitative evaluation of the strength for the association between HOTAIR gene polymorphisms and the risk of cancer. Our current meta-analysis investigation showed that HOTAIR rs4759314 polymorphism particularly increased the overall risk of cancer in different models including homozygous, recessive and allele genetic. HOTAIR rs920778 significantly raised the cancer risk only in recessive genetic model. HOTAIR rs12826786 polymorphism was associated with cancer development in heterozygous, homozygous, dominant, recessive and allele genetic models. Also, an increase in cancer risk was observed with rs874945 polymorphism of HOTAIR gene in heterozygous, dominant and allele genetic models. The rs12427129 polymorphism showed correlation with cancer susceptibility only in recessive model. Subgroup analysis based on cancer type suggested that rs4759314 polymorphism significantly increased the risk of gastric and cervical cancers, and the rs920778 polymorphism increased the risk of gastrointestinal, cervical and gastric cancers. In summary, this study found that HOTAIR polymorphisms are significantly associated with cancer development

Association between genetic polymorphisms of long noncoding RNA H19 and cancer risk: a meta-analysis

Long noncoding RNA (lncRNA) H19, a well-known oncogenic lncRNA, is overexpressed in various cancers. Several studies have investigated the association between polymorphisms in lncRNA H19 and the risk of various cancer types; however, the findingswere inconsistent. In this study,we performed ameta-analysis to identify the precise association between H19 polymorphismsand cancer risk. Appropriate studies were retrieved from searching Web of Science, PubMed, Scopus, and Google scholar databases, updated 25 November 2018. The pooled odds ratios (ORs with 95% confidence intervals (CIs) were calculated to estimate the strength of the association between H19 polymorphisms and cancer risk. Our findings revealed that the H19-rs217727 C>T polymorphism is significantly associated with an increased risk of overall cancer in homozygous codominant (OR=1.28, 95%CI=1.04–1.57, P =0.020, TT vs CC), dominant (OR=1.20, 95% CI=1.04–1.37, P =0.010, CT+TT vs CC), recessive (OR=1.21, 95% CI=1.00–1.46, P =0.048, TT vs CT+CC), and allele (OR=1.16, 95%CI=1.05–1.28, P =0.003, T vs C) genetic models. No significant correlations were observed between H19: rs2839698 G>A, rs2107425 C>T, rs2735971 C>T, rs3024270 G>C, rs3741219 T>C, rs2839701 C>G, rs2735469 C>T, rs17658052 G>A, and rs3741216 T>A polymorphisms and overall cancer risk. Stratified analysis by cancer type proposed that the rs217727 variant is associated with increased risk of oral squamous cell carcinoma (OSCC) andlung cancer, whereas the rs2839698 variant is associated with increased risk of gastrointestinal cancer. Taken together, these findings support an association between H19 rs217727, and rs2839698 polymorphisms and cancer susceptibility. Larger and well-designed studies are necessary to further confirm these findings in detail.

Association between cognitive function and parameters of echocardiography and coronary artery angiography / Associação entre a função cognitiva e parâmetros de ecocardiografia e angiografia da artéria coronária

ABSTRACT We aimed to determine whether there is an association between cognition and the results of echocardiography and angiography, based on neuropsychological assessments. Methods: We assessed the cognition of 85 patients who had recently undergone coronary artery angiography. We calculated the Gensini score for the coronary artery disease index. We also performed echocardiography to find indices of cardiac functioning. Results: The lower left ventricular ejection fraction correlated with lower scores on visuospatial, executive function, processing speed/attention and verbal memory capacities (p ≤ 0.05). A higher Gensini score and left atrial size correlated with lower executive function and processing speed/attention (p ≤ 0.05). In the group of patients with an impaired cognitive state, higher Gensini scores correlated with decreased processing speed/attention (p = 0.01) and the e' index was associated with lower capacity of executive function (p = 0.05). Conclusion: Decreased processing speed/attention and executive function may correlate with cardiac dysfunction and coronary artery disease. The Color Trail Test may be considered for simple screening for cognitive problems in elderly patients with coronary artery disease or diastolic dysfunction.

RESUMO O objetivo deste estudo é encontrar associação entre cognição e resultados de exames ecocardiográficos e angiográficos, com base em avaliações neuropsicológicas. Método: Foi avaliada a cognição de 85 pacientes que foram submetidos a angiografia coronária. O escore de Gensini foi calculado para o índice de doença arterial coronariana (DAC). Foi realizado também, o exame ecocardiográfico a fim de descobrir os índices de funcionamento cardíaco. Resultados: A fração de ejeção do ventrículo inferior esquerdo está correlacionada com a baixa pontuação na capacidade visual e espacial, função executiva, velocidade de processamento/atenção e memória verbal (p ≤ 0,05). Alto escore de Gensini e tamanho do átrio esquerdo correlacionados com baixa função executiva, velocidade de processamento/atenção (p ≤ 0,05). No grupo de pacientes com estado cognitivo prejudicado, alto escore de Gensini correlacionado com diminuição da velocidade de processamento/atenção (p = 0,01) e índice e' associado a baixa capacidade da função executiva (p = 0,05). Conclusão: Diminuição da velocidade de processamento/atenção e da função executiva pode estar correlacionado a disfunção cardíaca e DAC. O Color Trail Test pode ser considerado para uma triagem simples de problemas cognitivos em pacientes idosos com DAC ou disfunção diastólica.

Association of single nucleotide polymorphisms in AXIN2, BMP4, and IRF6 with Non-Syndromic Cleft Lip with or without Cleft Palate in a sample of the southeast Iranian population

Abstract Non-syndromic cleft lip with or without palate (NSCL/P) is a common congenital malformation worldwide, with complex etiology. It has been proposed that interaction of genes and environmental factors play a role in the predisposition to this disease. Objectives: The aim of this study was to examine the association between AXIN2 (axis inhibition protein 2) rs7224837, BMP4 (bone morphogenetic protein 4) rs17563, and IRF6 (interferon regulatory factor 6) rs861019 and 2235371 polymorphisms and NSCL/P in an Iranian population. Material and Methods: This case-control study was carried out on 132 unrelated NSCL/P patients and 156 healthy subjects. The variants were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: The findings suggest that BMP4 rs17563 polymorphism significantly decreased the risk of NSCL/P in codominant (OR=0.36, 95%CI=0.17-0.79, p=0.012, CT vs CC and OR=0.11, 95%CI=0.01-0.88, p = 0.019, TT vs CC), dominant (OR=0.30, 95%CI=0.15-0.62, p = 0.0007, CT+TT vs CC), recessive (OR=0.12, 95%CI=0.02-0.99, p = 0.023, TT vs CC+CT), overdominant (OR=0.39, 95%CI = 0.18-0.84, p=0.021, CT vs CC+TT), and allele (OR=0.28, 95%CI=0.15-0.55, p<0.0001, T vs C) inheritance models. Our findings did not support an association between AXIN2 rs7224837 and IRF6 rs861019 polymorphism and risk/protection of NSCL/P. The IRF6 2235371 variant was not polymorphic in our population. Conclusion: The results indicate that the BMP4 rs17563 variant is likely to confer a protective effect against the occurrence of NSCL/P in a sample of the southeast Iranian population.

Influence of non-starch polysaccharide-degrading enzymes on growth performance, blood parameters, and carcass quality of broilers fed corn or wheat/barley-based diets / Influencia de enzimas degradadoras de polisacáridos no amiláceos en el crecimiento, parámetros sanguíneos y calidad de la canal de pollos de engorde alimentados con dietas a base de maíz o trigo/cebada / Influência de enzimas exógenas degradaroras de polissacarídeos n ão amiláceos no crescimento, parâmetros sanguíneos e qualidade de carcaça de frangos de corte alimentados com dietas à base de milho e de trigo/cevada

Abstract Background: Although the use of non-starch polysaccharide-degrading enzymes (NSPases) in corn, oat, rye, barley or wheat-based broiler diets has already been researched for some years, little attention has been given to the mixture of wheat and barley, as basic raw materials for broiler feed. Objective: To evaluate the effect of different inclusion levels of commercial NSP enzymes in corn or in the mixture of wheat/barley-based diets on growth performance, carcass quality and blood parameters of broilers. Methods: Three hundred 1 d-old male broiler chicks (Ross-308) were fed two basal diets (corn and a wheat/barley-based diets), two commercial feed enzymes (Kemin® and Rovabio®), and two enzyme levels (0.025 and 0.05%) in a 2×2×2 factorial arrangement, from 1 to 42 d of age. Results: Overall, birds fed corn-based diets with or without enzyme supplementation consumed more feed (p<0.05) over the entire experiment, experienced higher weight gain (p<0.05) and lower feed conversion ratio (FCR; p<0.05) when compared with wheat/barley-based diet. Notwithstanding, FCR did not improve in birds fed corn-based diets with enzymes, while gain and FCR improved (p<0.05) feeding wheat/barley-based diets with 0.05% NSPases. Economical traits of carcass were not affected (p>0.05) by the treatments, while blood biochemistry parameters, such as glucose, VLDL and HDL changed (p<0.05) when enzymes were supplied. Conclusion: Our results show bio-efficacy of feeding xylanases and glucanases in wheat/barley based-poultry diets, rich in NSPases, which could translate into economic benefits.

Resumen Antecedentes: Aunque el uso de enzimas degradadoras de polisacáridos no amiláceos (NSPasas) en dietas a base de maíz, avena, centeno, cebada o trigo ha sido investigado, se ha prestado poca atención a la mezcla de trigo y cebada como materias primas básicas para la alimentación del pollo de engorde. Objetivo: Evaluar el efecto de la inclusión de diferentes niveles de enzimas NSP comerciales en dietas basadas en maíz y en la mezcla de trigo/cebada sobre el crecimiento, calidad de la canal y metabolitos sanguíneos del pollo de engorde. Métodos: Trescientos pollos machos de 1 d de edad (Ross-308) fueron alimentados con dos dietas (una dieta a base de maíz y una dieta basada en trigo/cebada), dos enzimas comerciales (Kemin® y Rovabio®), y dos niveles de enzimas (0,025 y 0,05%) en un arreglo factorial de 2×2×2, desde el d 1 al 42 de edad. Resultados: En general, las aves alimentadas con dietas a base de maíz (con o sin suplementación enzimática) consumieron más alimento (p<0,05) durante todo el experimento, mostraron mayor aumento de peso (p<0,05) y menor FCR (p<0,05) en comparación con la dieta basada en trigo/cebada (con o sin suplementación enzimática). Sin embargo, cuando se proporcionaron las enzimas, la FCR no mejoró en las aves alimentadas con la dieta a base de maíz. Por el contrario, en las aves alimentadas con trigo/cebada aumentó el peso corporal y la conversión alimenticia mejoró (p<0,05) con la inclusión de 0,05% NSPasas. Los tratamientos dietarios no afectaron (p>0.05) las características económicas de la canal, mientras que parámetros de bioquímica sanguínea como glucosa, colesterol, VLDL y HDL cambiaron (p<0,05) al incorporar enzimas en la dieta. Conclusión: Los resultados muestran la bioeficacia de xilanasas y glucanasas en dietas avícolas a base de trigo/cebada, ricas en NSPasas, lo que se podría traducir en beneficios económicos para el productor.

Resumo Antecedentes: Embora o uso de enzimas degradadoras de polisacarideos não amiláceos (NSPasas) em dietas de frangos de corte à base de milho, aveia, centeio, cevada ou trigo já venha a ser estudada há vários anos, pouca atenção tem sido dada à mistura de trigo e cevada como matérias-primas básicas para a ração de frangos. Objetivo s: Avaliar o efeito de diferentes níveis de enzimas NSP comerciais em dietas à base de milho e à base da mistura de trigo/cevada sobre o desempenho produtivo, a qualidade da carcaça e os parâmetros bioquímicos sanguíneos em frangos de corte. Métodos: Trezentos frangos de corte machos de 1 d de idade (Ross-308) foram alimentadas com duas dietas basais (uma à base de milho e outra à base de trigo e cevada), dois produtos enzimáticos comerciais (Kemin® e Rovabio®) e dois níveis dessas enzimas (0,025 e 0,05%), num arranjo fatorial 2×2×2, de 1 a 42 d de idade. Resultados: Em geral, as aves alimentadas com dietas à base de milho (com ou sem suplementação enzimática) consumiram mais alimentos (p <0,05) ao longo do experimento, apresentaram maior ganho de peso (p <0,05) e menor RRF (p<0,05) em comparação com a dieta à base de trigo/cevada (com ou sem suplementação enzimática). No entanto, quando as enzimas foram fornecidas, o FCR não melhorou em aves alimentadas com a dieta à base de milho. Em contraste, em aves alimentadas com trigo/cevada, o peso corporal aumentou e a conversão alimentar melhorou (p<0,05) com inclusão de 0,05% de NSPasas. Os tratamentos dietéticos não afetaram as características econômicas da carcaça (p>0,05), enquanto os parâmetros bioquímicos do sangue, como glicose, colesterol, VLDL e HDL, mudaram (p<0,05) ao incorporar enzimas na dieta. Conclusão: Os resultados confirmam a bioeficiência da inclusão de xilanases e glucanases nas dietas à base de trigo e cevada, ricas em NSPasas, o que poderá trazer benefícios económicos para o produtor.

Association of genetic polymorphisms of CISH with the risk of pulmonary tuberculosis in Zahedan, Southeast Iran

Abstract Background In the current study we aimed to find out the impact of cytokine-inducible Src homology 2 domain protein (CISH) gene polymorphisms on the risk of pulmonary tuberculosis (PTB) in a sample of Iranian population. Materials and methods Polymorphisms of CISH rs2239751, rs414171, and rs6768300 were determined in 200 PTB patients and 200 healthy subjects using T-ARMS-PCR or PCR-RFLP method. Results The results showed that rs414171 A>T genotypes significantly decreased the risk of PTB (OR = 0.16, 95% CI = 0.10–0.27, p < 0.0001, AT vs AA; OR = 0.31, 95% CI = 0.14–0.68, p < 0.0001, TT vs AA; OR = 0.19, 95% CI = 0.12–0.29, p < 0.0001, AT+TT vs AA; OR = 0.29, 95%CI = 0.20–0.42, p < 0.0001, T vs A). For rs6768300, the findings indicated that this variant decreased the risk of PTB (OR = 0.52, 95% CI = 0.33–0.82, p = 0.005, CG vs GG; OR = 0.57, 95% CI = 0.38–0.87, p = 0.012, C vs G). No significant association was observed between CISH rs2239751 polymorphism and risk/protection of PTB. Conclusion Our findings indicated that CISH rs414171 and rs6768300 variants might be associated with protection from PTB.

Association of Angiotensin-Converting Enzyme Genotype, Insertion/Deletion Polymorphism and Saphenous Vein Graft Atherosclerosis in Iranian Patients

ABSTRACT OBJECTIVE: The aim of this study was to evaluate possible interactions among Angiotensin-I converting enzyme genotype, insertion/deletion polymorphism and atherosclerosis of vein grafts in Iranian patients, and characterize their clinical and demographic profile. METHODS: In this cross-sectional study, patients who underwent coronary artery bypass graft surgery more than five years ago, were included for angiographic analysis. Atherosclerosis was determined by quantitative angiography and adjusted Gensini score. The gene angiotensin converting enzyme I/D polymorphism was detected by polymerase chain reaction. RESULTS: A total of 102 patients participated in this study. Eighty-four patients were male. The frequency distribution of DD, ID and II polymorphism were 23.6%, 62.7% and 13.7% respectively. There were no differences among genotypic groups in age, sex, number of risk factors, number of vein grafts and months since bypass surgery. According to adjusted Gensini score [0.18±0.12 (II) vs. 0.11±0.09 (ID) and 0.1±0.09 (DD) P=0.021] the II genotype was associated with severity of vein graft atherosclerosis. CONCLUSION: Although there are conflicting results about gene angiotensin converting enzyme I/D polymorphism and the degree of venous bypass graft degeneration, this study suggests an association between ACE genotype II and atherosclerosis of saphenous vein grafts, however, large samples considering clinical, demographic and ethnic profile are necessary to confirm these results.

The 19-bp deletion polymorphism of dihydrofolate reductase (DHFR) and nonsyndromic cleft lip with or without cleft palate: evidence for a protective role

Objective Nonsyndromic cleft lip with or without cleft palate (NS-CL/P) are among the most common congenital birth defects worldwide. Several lines of evidence point to the involvement of folate, as well as folate metabolizing enzymes in risk reduction of orofacial clefts. Dihydrofolate reductase (DHFR) enzyme participates in the metabolic cycle of folate and has a crucial role in DNA synthesis, a fundamental feature of gestation and development. A functional polymorphic 19-bp deletion within intron-1 of DHFR has been associated with the risk of common congenital malformations. The present study aimed to evaluate the possible association between DHFR 19-bp deletion polymorphism and susceptibility to NS-CL/P in an Iranian population. Material and Methods The current study recruited 100 NS-CL/P patients and 100 healthy controls. DHFR 19-bp deletion was determined using an allele specific-PCR method. Results We observed the DHFR 19-bp homozygous deletion genotype (D/D) vs. homozygous wild genotype (WW) was more frequent in controls than in NS-CL/P patients (25% vs. 13%), being associated with a reduced risk of NS-CL/P in both codominant (OR=0.33, P=0.027) and recessive (OR=0.45, P=0.046) tested inheritance models. We also stratified the cleft patients and reanalyzed the data. The association trend for CL+CL/P group compared to the controls revealed that the DD genotype in both codominant (OR=0.30, P=0.032) and recessive models (OR=0.35, P=0.031) was associated with a reduced risk of CL+CL/P. Conclusions Our results for the first time suggested the DHFR 19-bp D/D genotype may confer a reduced risk of NS-CL/P and might act as a protective factor against NS-CL/P in the Iranian subjects. .

Association between toll-like receptor2 Arg677Trp and 597T/C gene polymorphisms and pulmonary tuberculosis in Zahedan, Southeast Iran

BACKGROUND: It is well known that toll-like receptor 2 (TLR2) mediates responses of both innate and adaptive immunity to microbial pathogen, including mycobacteria. Single-nucleotide polymorphisms (SNPs) in the TLR2 gene that impair its function may be associated with the development of pulmonary tuberculosis (PTB). The aim of this study was to evaluate the possible association between TLR2 Arg677Trp and 597T/C polymorphisms and PTB in a sample of Iranian population. MATERIALS AND METHODS: This case-;control study was performed on 174 PTB and 177 healthy subjects. Tetra amplification refractory mutation system-polymerase chain reaction (TARMS-PCR) was used to detect the SNPs. RESULTS: There was no significant difference in the polymorphism of Arg677Trp of the TLR2 gene among PTB and control groups (p > 0.05). The results showed that there was a significant difference between case and control groups regarding 597T/C polymorphism (χ2 = 12.21, p = 0.002). The TC and CC genotypes were found to be associated with the risk of PTB (OR = 2.13, 95% CI = 1.25-;3.62, p = 0.005 and OR = 4.88, 95% CI = 1.56-;15.26, p = 0.007, respectively). CONCLUSION: Our data suggest that 597T/C polymorphism, but not Arg677Trp polymorphism, of the TLR-2 gene is a risk factor for susceptibility to PTB in a sample of Iranian population.

Associação entre o polimorfismo rs7700944 no gene TIM-4 e artrite reumatoide em Zahedan, sudeste do Irã / Association between the rs7700944 polymorphism in the TIM-4 gene and rheumatoid arthritis in Zahedan, southeast Iran

INTRODUÇÃO: Recentemente, relatou-se uma associação entre artrite reumatoide (AR) e a variante rs7700944 G>A nos domínios imunoglobulina e mucina de células T (TIM-4). OBJETIVO: Investigar o impacto desse polimorfismo na suscetibilidade a AR em uma amostra da população iraniana. PACIENTES E MÉTODOS: Este estudo caso-controle foi conduzido em 120 pacientes com AR e 120 indivíduos saudáveis. O polimorfismo rs7700944 do gene TIM-4 foi determinado usando-se o ensaio tetra amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR). RESULTADOS: Não se observou diferença significativa quanto ao polimorfismo rs7700944 do gene TIM-4 entre os pacientes com AR e os indivíduos saudáveis. Nas mulheres, não houve associação significativa quanto ao polimorfismo rs7700944 do gene TIM-4 nos dois grupos. Nos homens, o genótipo GA+AA, em comparação ao GG, aumentou o risco para AR (OR = 5,15; IC 95% = 1,30-20,48; P = 0,020). Além disso, os resultados mostraram que o alelo rs7700944 A aumentou o risco para AR (OR = 4,39; IC 95% = 1,43-13,54; P = 0,009). CONCLUSÃO: Nossos resultados não confirmam a existência de associação entre AR e o polimorfismo rs7700944 do gene TIM-4. Uma interação entre esse polimorfismo e sexo sugere uma associação sexo-específica entre AR e esse polimorfismo de nucleotídeo único, que ainda requer elucidação.

INTRODUCTION: Recently, an association between rheumatoid arthritis (RA) and the rs7700944 G>A variant in the T-cell immunoglobulin and mucin domains 4 (TIM-4) has been reported. OBJECTIVE: The present study aimed at investigating the impact of that polymorphism on susceptibility to RA in a sample of the Iranian population. Patients and methods: This case-control study was conducted on 120 patients with RA and 120 healthy subjects. The rs7700944 polymorphism in the TIM-4 gene was determined using tetra amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR) assay. RESULTS: No significant difference was observed regarding the rs7700944 polymorphism of the TIM-4 gene between patients with RA and normal individuals. In females, no significant association was found between the groups concerning the rs7700944 polymorphism of the TIM-4 gene. In males, the GA+AA genotype increased the risk of RA in comparison with the GG genotype (OR = 5.15, 95% CI = 1.30-20.48, P = 0.020). Furthermore the results showed that the rs7700944 A allele increased the risk of RA (OR = 4.39, 95% CI = 1.43-13.54, P = 0.009). CONCLUSION: Our results do not support an association between the rs7700944 polymorphism of the TIM-4 gene and RA. An interaction between this polymorphism and sex suggests a sex-specific association between this single nucleotide polymorphism and RA, which remains to be fully elucidated.

Analysis of cytotoxic T-lymphocyte-associated antigen-4 and MMP-9 genes’ methylation and their expression profiles with risk of non-alcoholic fatty liver disease.

OBJECTIVE: To investigate the effect of promoter methylation of cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) gene and matrix metalloproteinases (MMPs) on the risk of non-alcoholic fatty liver disease (NAFLD). MATERIALS AND METHODS: CTLA-4 and MMP-9 promoter methylation were investigated using a methylation-specific polymerase chain reaction (MS-PCR) in blood samples taken from 80 NAFLD individuals and 95 healthy controls. The expression levels of CTLA-4 and MMP-9 were also assessed in 10 blood and 9 liver tissues mRNA samples from NAFLD patients. These cases were compared to the blood (n = 10) samples of healthy controls with real-time quantitative reverse transcriptase PCR. RESULTS: No significant relationship was found for methylation of CTLA-4 and MMP-9 between cases and controls. The relative expression of CTLA-4 and MMP-9 mRNA in NAFLD was not significantly different compared to healthy control samples. CONCLUSION: For the first time, our outcomes indicate that the methylation status of CTLA-4 and MMP-9 genes has no significant function on the process of NAFLD.