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1.
Fetal Pediatr Pathol ; 40(2): 153-165, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31738634

RESUMO

BACKGROUND: This meta-analysis was carried out to evaluate the associations between IL-10 polymorphisms and Kawasaki disease (KD) risk. METHODS: A comprehensive literature search was performed using PubMed, EMBASE, China National Knowledge Infrastructure and SciELO for all relevant studies evaluating IL-10 polymorphism and susceptibility to KD. The associations were measured by odds ratios (ORs) and its corresponding 95% confidence intervals (CIs). RESULTS: A total of 13 studies including four studies on -1082 A > G, four studies on -819 T > C and five studies on -592 A > C polymorphism were selected. Pooled data revealed that IL-10 -592 A > C polymorphism was significantly associated with an increased risk of KD (C vs. A: OR = 0.402, 95% CI 0.194-0.832, p = 0.014). However, IL-10 -1082 A > G and -819 T > C polymorphisms were not significantly associated with risk of KD under all five genetic models. CONCLUSIONS: Our results revealed that IL-10 -592 A > C polymorphism was associated with risk of KD, while IL-10 -1082 A > G and -819 T > C polymorphisms were not involved in the development of KD.


Assuntos
Interleucina-10 , Síndrome de Linfonodos Mucocutâneos , China , Predisposição Genética para Doença , Humanos , Interleucina-10/genética , Síndrome de Linfonodos Mucocutâneos/genética , Polimorfismo de Nucleotídeo Único
2.
Fetal Pediatr Pathol ; 40(3): 206-213, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31757175

RESUMO

BACKGROUND: Legg-Calve-Perthes disease (LCPD) is an idiopathic avascular necrosis of the capital femoral epiphysis of the femoral head with multifactorial etiology. The aim of this study was to analyze the association of IL-6 polymorphisms with LCPD risk in Iranian children. Methods: The study comprised of 45 children diagnosed with LCPD and 60 healthy subjects. The IL-6 -174 G > C and -597 G > C polymorphisms were genotyped by PCR-RFLP assay. Odds ratios (OR) and 95% confidence intervals (CI) were calculated on the risk genotypes and alleles. Results: The mutant homozygote genotype (CC) of IL-6 -174 G > C polymorphism was associated with increased risk of LCPD (OR 3.554; 95% CI: 0.1.578-8.004; p = 0.002). There was no significant association between IL-6 -597 G > C polymorphism and an increased risk of LCPD. Conclusions: Our results suggest that the IL-6 -174 G > C but not the IL-6 -597 G > C polymorphism may increase LCPD susceptibility in Iranian children.


Assuntos
Interleucina-6 , Doença de Legg-Calve-Perthes , Criança , Humanos , Interleucina-6/genética , Irã (Geográfico) , Doença de Legg-Calve-Perthes/genética , Razão de Chances , Polimorfismo Genético
3.
Fetal Pediatr Pathol ; 40(1): 1-17, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31682771

RESUMO

BACKGROUND: Several studies have evaluated association of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene 1298A > C polymorphism with non-syndromic cleft lip with or without palate (NSCL ± P) susceptibility, however the results are inconsistent. MATERIALS AND METHODS: To address this issue, we performed a case-control study to evaluate the association of MTHFR 1298A > C polymorphism with NSCL ± P risk, followed by a meta-analysis. RESULTS: Including our study, a total of 22 case-control studies with 2,814 cases and 4,199 controls were selected. The results suggested that there was no significant association between MTHFR 1298A > C polymorphism and NSCL ± P risk overall. The subgroup analysis demonstrated that the polymorphism was significantly associated with NSCL ± P risk in Asians and Iranian populations, but not in Caucasians, mixed and Chinese populations. CONCLUSION: This meta-analysis indicates that MTHFR 1298A > C polymorphism may not contribute to NSCL ± P risk in overall. However, the MTHFR 1298A > C polymorphism was significantly associated with an increased risk of NSCL ± P in Asians and Iranian populations.


Assuntos
Fenda Labial , Fissura Palatina , Estudos de Casos e Controles , Fenda Labial/genética , Fissura Palatina/genética , Predisposição Genética para Doença , Genótipo , Humanos , Irã (Geográfico) , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Polimorfismo de Nucleotídeo Único
4.
Fetal Pediatr Pathol ; 39(1): 29-37, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31268379

RESUMO

Background: Previously, only a few studies have investigated the association of AXIN2 polymorphisms with nonsyndromic cleft lip with or without cleft palate (NSCLP) risk. Objective: The aim of this study was to examine the association of rs2240308 C > T, rs1133683 C > T, and rs7224837 A > G polymorphisms of the AXIN2 gene with NSCLP risk in Iranian children. Methods: The study was comprised of 120 NSCLP cases and 120 controls. The AXIN2 polymorphisms were genotyped using PCR-RFLP assay. Results: The mutant homozygote genotype (TT) of AXIN2 rs1133683 C > T polymorphism was associated with increased risk of NSCLP. There was no significant association between rs2240308 C > T and rs7224837 A > G polymorphisms of the AXIN2 gene with an increased risk of NSCLP. Conclusion: This study indicates that AXIN2 rs1133683 C > T polymorphism may modify NSCLP susceptibility in the Iranian children, but not the rs2240308 C > T and rs7224837 A > G polymorphisms.


Assuntos
Proteína Axina/genética , Fenda Labial/genética , Fissura Palatina/genética , Predisposição Genética para Doença , Estudos de Casos e Controles , Criança , Feminino , Frequência do Gene , Genótipo , Humanos , Irã (Geográfico) , Masculino , Polimorfismo de Nucleotídeo Único/genética
5.
Fetal Pediatr Pathol ; 39(4): 334-345, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31437068

RESUMO

Background: We performed a meta-analysis to clarify the association of endothelial nitric oxide synthase (eNOS) and angiotensin I-converting enzyme (ACE) gene polymorphisms with retinopathy of prematurity (ROP) risk. Methods: PubMed, Medline, and Embase literatures up to June 01, 2019, were reviewed. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to estimate the strength of associations. Results: Eighteen case-control studies including 14 studies (810 cases and 1754 controls) on eNOS polymorphisms and four studies (1014 cases and 1215 controls) on ACE I/D polymorphism were selected. Overall, analysis showed that infants with the ACE I/D polymorphism have an increased susceptibility to ROP. No association of eNOS 27-bp, 894 G > T and -786 T > C polymorphisms with ROP risk was found. Conclusion: ACE I/D polymorphism may serve as genetic biomarker of increased ROP risk. The eNOS polymorphisms do not appear to influence susceptibility to ROP.


Assuntos
Óxido Nítrico Sintase Tipo III , Peptidil Dipeptidase A/genética , Retinopatia da Prematuridade , Estudos de Casos e Controles , Predisposição Genética para Doença , Humanos , Recém-Nascido , Óxido Nítrico Sintase Tipo III/genética , Polimorfismo Genético , Retinopatia da Prematuridade/genética
6.
Fetal Pediatr Pathol ; 39(4): 346-359, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31437073

RESUMO

Background: The present meta-analysis was performed to investigate the association of promoter region polymorphisms at IL-6 and IL-18 genes with recurrent pregnancy loss (RPL) risk. Methods: An electronic search of the PubMed, Embase, ISI Web of Knowledge and CNKI databases was performed to identify eligible studies up to May 30, 2019. Results: A total of 31 case-control studies were finally selected. Significant associations with the risk of RPL were detected for the IL-6 -174 G > C, -634 G > C and IL-18 -137 G > C polymorphisms in overall population. Further, subgroup analyses by ethnicity revealed that the IL-6 -174 G > C and -634 G > C polymorphisms were significantly associated with risk of RPL risk in Asians. Conclusions: Our results suggest that the IL-6 -174 G > C, -634 G > C and IL-18 -137 G > C polymorphisms may contribute to the susceptibility of RPL. The IL-18 -607 C > A polymorphism does not appear to influence the development of RPL.


Assuntos
Aborto Habitual , Interleucina-18 , Aborto Habitual/genética , Feminino , Predisposição Genética para Doença , Humanos , Interleucina-18/genética , Interleucina-6/genética , Gravidez , Regiões Promotoras Genéticas/genética
7.
Fetal Pediatr Pathol ; 39(5): 422-429, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31573368

RESUMO

Background: The associations of MTHFR polymorphisms with risk of attention deficit and hyperactivity disorder (ADHD) are poorly elucidated. This study was performed to evaluate the association of MTHFR polymorphisms with ADHD risk in Iranian children.Methods: This case-control study included 214 children with ADHD and 220 healthy subjects. The MTHFR 677C > T and 1298A > C polymorphisms were genotyped by an ABI PRISMs 7500 real-time PCR System. The odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of the association.Results: The MTHFR 1298A > C polymorphism CC genotype (OR= 1.526, 95% CI 1.004-2.320, p = 0.048) and C allele (OR= 1.336, 95% CI 0.1023-1.745, p = 0.034) were associated with an increased risk of ADHD. There was no significant association between MTHFR 677C > T polymorphism and increased risk of ADHD.Conclusions: Our results revealed that the MTHFR 1298A > C polymorphism but not the MTHFR 677 C > T is associated with increased risk of ADHD in Iranian children.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtorno do Deficit de Atenção com Hiperatividade/genética , Estudos de Casos e Controles , Criança , Predisposição Genética para Doença , Genótipo , Humanos , Irã (Geográfico) , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Polimorfismo de Nucleotídeo Único
8.
Fetal Pediatr Pathol ; 39(6): 476-490, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31590591

RESUMO

Background: Previous studies have suggested a close association between REarranged during Transfection (RET) c.73 + 9277T > C and c.135G > A polymorphisms and Hirschsprung disease (HSCR) susceptibility. The results are inconsistent and contradictory. Thus, we performed a meta-analysis to evaluate the association of RET c.73 + 9277T > C and c.135G > A polymorphisms with risk of HSCR.Methods: The eligible literatures were searched by PubMed, Google Scholar, EMBASE, and CNKI up to August 5 2019.Results: A total of 20 studies including 10 studies with 1136 cases and 2420 controls on c.73 + 9277T > C and 10 studies with 917 cases and 1159 controls on c.135G > A were selected. Pooled ORs revealed that c.73 + 9277T > C and c.135G > A polymorphisms were significantly associated with an increased risk of HSCR. Moreover, stratified analysis revealed that c.73 + 9277T > C and c.135G > A polymorphisms were associated with HSCR risk in Asian, Caucasian and Chinese populations.Conclusions: This meta-analysis result indicated that the RET c.73 + 9277T > C and c.135G > A polymorphisms were associated with susceptibility to HSCR.


Assuntos
Doença de Hirschsprung , Povo Asiático/genética , Predisposição Genética para Doença , Doença de Hirschsprung/genética , Humanos , Polimorfismo de Nucleotídeo Único , Proteínas Proto-Oncogênicas c-ret/genética , Transfecção
9.
Asian J Psychiatr ; 46: 54-61, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31614268

RESUMO

Several studies have investigated association of MTHFR 677C > T and 1298A > C polymorphisms with risk of autism, but they have reported controversial and inconclusive results. The present meta-analysis was designed to evaluate association of MTHFR 677C > T and 1298A > C polymorphisms with risk of autism. A comprehensive literature search was done in PubMed, EMBASE, and CNKI databases to identify all eligible publications up to April 01, 2019. Finally, 25 case-control studies including 18 studies on MTHFR 677C > T and 7 studies on MTHFR 1298A > C polymorphism were selected. Overall, a significant association was found between MTHFR 677C > T and an increased risk of autism under all five genetic models (T vs. C: OR = 1.483, 95% CI 1.188-1.850, p ≤ 0.001; TT vs. CC: OR = 1.834, 95% CI 1.155-2.913, p = 0.010; TC vs. CC: OR = 1.512, 95% CI 1.101-2.078, p = 0.011; TT + TC vs. CC: OR = 1.632, 95% CI 1.261-2.113, p ≤ 0.001; and TT vs. TC + CC: OR = 1.427, 95% CI 1.002-2.032, p = 0.049). However, no significant association was found between MTHFR 1298A > C and autism risk. Stratified analyses showed that MTHFR 677C > T and 1298A > C polymorphisms are involved in genetic susceptibility of autism by ethnicity. Results of this meta-analysis indicated that MTHFR 677C > T polymorphism may be associated with increased risk of autism in overall and by ethnicity, while MTHFR 1298A > C was reported to be significantly associated with the risk of autism only in Caucasians. MTHFR polymorphisms could be used as a diagnostic marker for autism with respect to ethnicity background.


Assuntos
Transtorno do Espectro Autista/etnologia , Transtorno do Espectro Autista/genética , Predisposição Genética para Doença/etnologia , Predisposição Genética para Doença/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Humanos
10.
Arq Gastroenterol ; 56(3): 323-328, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31633733

RESUMO

BACKGROUND: There has been little evidence to suggest that the IL-6 -174G>C and IL-10 -1082A>G polymorphisms are significantly associated with susceptibility to celiac disease. Thus, we performed the present meta-analysis to explore the potential association between these polymorphisms and celiac disease risk. METHODS: Eligible studies were searched in PubMed, Medline, Embase, Web of Science and CNKI database up to April 20, 2019. Odds ratios with 95% confidence interval were calculated to assess the potential associations. Moreover, we performed the heterogeneity, sensitivity, and publication bias tests to clarify and validate the pooled results. RESULTS: Overall, nine case-control studies involving five studies with 737 cases and 1,338 control on IL-6 -174G>C polymorphism and four studies with 923 cases and 864 controls on IL-10 -1082A>G polymorphism were selected. The pooled ORs showed that the IL-6 -174G>C and IL-10 -1082A>G polymorphisms were not significantly associated with increased risk of celiac disease under all five genetic models. There was no publication bias. CONCLUSION: To the best of our knowledge, this is the first meta-analysis summarizing all of the available studies on the association of IL-6 -174G>C and IL-10 -1082A>G polymorphisms with celiac disease. Our results suggest that the IL-6 -174G>C and IL-10 -1082A>G polymorphisms may not be associated with increased risk of celiac disease. Moreover, large and well-designed studies are needed to fully describe the association of IL-6 -174G>C and IL-10 -1082A>G polymorphisms with celiac disease.


Assuntos
Doença Celíaca/genética , Predisposição Genética para Doença , Interleucina-10/genética , Interleucina-6/genética , Polimorfismo Genético , Estudos de Casos e Controles , Genótipo , Humanos , Metanálise como Assunto , Razão de Chances
11.
Asian Pac J Cancer Prev ; 20(9): 2569-2577, 2019 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-31554347

RESUMO

Background: Previous studies have evaluated the impact of MTHFR 677C>T polymorphism on susceptibility to ovarian and cervical cancers in women, but the conclusions are still controversial. To get a more precise evaluation of the association between MTHFR 677C>T polymorphism and risk of ovarian and cervical cancers, we performed a meta-analysis of the association of all eligible studies. Methods: A comprehensive search performed in PubMed, Google Scholar, CNKI, and Web of Science databases to identify the relevant studies up to October 15, 2018. The strength of the association was estimated by odds ratios (OR) with 95% confidence interval (CI). Results: A total of 27 case-control studies including eleven studies with 4990 cases 7730 controls on ovarian cancer and 16 studies with 4990 cases and 7730 controls on cervical cancer were selected. Pooled data revealed that the MTHFR 677C>T polymorphism not significantly associated with an increased risk of ovarian and cervical cancers under all five genetic models. However, stratified analysis by ethnicity showed that the MTHFR 677C>T polymorphism was significantly associated with risk of ovarian cancer in Asians. No publication bias was found in the current meta-analysis. Conclusions: The results of this meta-analysis proposes that the MTHFR 677C>T polymorphism may not play a role in development of ovarian and cervical cancers in overall population. Further well-designed studies are necessary to clarify the precise role of the MTHFR 677C>T polymorphism on ovarian and cervical cancers risk.


Assuntos
Predisposição Genética para Doença , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Neoplasias Ovarianas/etiologia , Polimorfismo de Nucleotídeo Único , Neoplasias do Colo do Útero/etiologia , Estudos de Casos e Controles , Feminino , Humanos , Neoplasias Ovarianas/patologia , Prognóstico , Fatores de Risco , Neoplasias do Colo do Útero/patologia
12.
Arq. gastroenterol ; 56(3): 323-328, July-Sept. 2019. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1038720

RESUMO

ABSTRACT BACKGROUND: There has been little evidence to suggest that the IL-6 -174G>C and IL-10 -1082A>G polymorphisms are significantly associated with susceptibility to celiac disease. Thus, we performed the present meta-analysis to explore the potential association between these polymorphisms and celiac disease risk. METHODS: Eligible studies were searched in PubMed, Medline, Embase, Web of Science and CNKI database up to April 20, 2019. Odds ratios with 95% confidence interval were calculated to assess the potential associations. Moreover, we performed the heterogeneity, sensitivity, and publication bias tests to clarify and validate the pooled results. RESULTS: Overall, nine case-control studies involving five studies with 737 cases and 1,338 control on IL-6 -174G>C polymorphism and four studies with 923 cases and 864 controls on IL-10 -1082A>G polymorphism were selected. The pooled ORs showed that the IL-6 -174G>C and IL-10 -1082A>G polymorphisms were not significantly associated with increased risk of celiac disease under all five genetic models. There was no publication bias. CONCLUSION: To the best of our knowledge, this is the first meta-analysis summarizing all of the available studies on the association of IL-6 -174G>C and IL-10 -1082A>G polymorphisms with celiac disease. Our results suggest that the IL-6 -174G>C and IL-10 -1082A>G polymorphisms may not be associated with increased risk of celiac disease. Moreover, large and well-designed studies are needed to fully describe the association of IL-6 -174G>C and IL-10 -1082A>G polymorphisms with celiac disease.


RESUMO CONTEXTO: Há poucas evidências para sugerir que os IL-6 -174G>C e IL-10 -1082A>G polimorfismos são significativamente associados com susceptibilidade para doença celíaca. Assim, foi realizada a presente meta-análise para explorar a potencial associação entre estes polimorfismos com o risco de doença celíaca. MÉTODOS: Foram pesquisados estudos elegíveis no Pubmed, Medline, Embase, Web of Science e CNKI Database até abril de 2019. Razões de probabilidades com 95% de intervalo de confiança foram calculados para avaliar as potenciais associações. Além disso, observou-se a heterogeneidade, a sensibilidade e o viés de publicação para esclarecer e validar os resultados agrupados. RESULTADOS: No total, nove estudos caso-controle envolvendo cinco estudos com 737 casos e 1.338 controle em IL-6 -174G>C polimorfismo e quatro estudos com 923 casos e 864 controles em IL-10 -1082A>G polimorfismo foram selecionados. As razões de probabilidade mostraram que o IL-6 -174G>C e IL-10 -1082A>G polimorfismos não estavam significativamente associados com aumento risco de doença celíaca nos cinco modelos genéticos. Não foi detectado viés de publicação. CONCLUSÃO: Pelo nosso conhecimento esta é a primeira meta-análise resumindo todos estudos disponíveis para associação de IL-6 -174G>C e IL-10 -1082A>G polimorfismos com doença celíaca. Estes resultados sugerem que os IL-6 -174G>C e IL-10 -1082A>G polimorfismos podem não ser associados com aumento risco de doença celíaca. Além disso, maiores estudos e mais bem desenhados são necessários para descrever totalmente a associação de IL-6 -174G>C e IL-10 -1082A>G polimorfismos com doença celíaca.


Assuntos
Humanos , Polimorfismo Genético , Doença Celíaca/genética , Interleucina-6/genética , Interleucina-10/genética , Predisposição Genética para Doença , Estudos de Casos e Controles , Razão de Chances , Metanálise como Assunto , Genótipo
13.
Rom J Ophthalmol ; 63(2): 107-118, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31334388

RESUMO

Aim: Several epidemiological studies have been performed to explore the association of MTHFR polymorphisms with glaucoma risk. However, the results were inconsistent or even inconclusive. Hence, we performed a meta-analysis to evaluate the association of MTHFR C677T and A1298C polymorphisms with glaucoma risk. Methods: A comprehensive literature search on PubMed, Google Scholar, EMBASE, and CNKI databases was performed to find all eligible studies up to January 30, 2019. The pooled odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of such association. Results: A total of 42 case-control studies including 33 studies for MTHFR C677T and nine studies for A1298C polymorphism were selected. Pooled results showed that there was no significant association between the MTHFR C677T polymorphism and glaucoma risk. Similarly, no associations were found in subgroup analysis based on ethnicity and glaucoma type. However, there was a significant association between the A1298C polymorphism and the increased risk of glaucoma under heterozygote model (OR=0.765, 95% CI=0.626-0.935, P=0.009). Moreover, the significant association between MTHFR A1298C polymorphism and glaucoma were found by ethnicity and primary open angle glaucoma (POAG). Conclusions: The present meta-analysis revealed that MTHFR A1298C polymorphism is significantly associated with the increased risk of glaucoma, but not MTHFR C677T polymorphism.


Assuntos
DNA/genética , Glaucoma/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Polimorfismo Genético , Estudos de Casos e Controles , Genótipo , Glaucoma/metabolismo , Humanos , Metilenotetra-Hidrofolato Redutase (NADPH2)/metabolismo , Medição de Risco
14.
Arq Gastroenterol ; 56(1): 88-94, 2019 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-31141070

RESUMO

BACKGROUND: There is increasing evidence to show that TNF-α -308G>A polymorphism may be a risk factor for celiac disease, but the results are inconsistent. OBJECTIVE: Thus, we aimed to perform a meta-analysis involving published studies up to January 2019 to elucidate the association. METHODS: To assess the effect of TNF-α -308G>A polymorphism on celiac disease susceptibility, we searched PubMed, ISI Web of Knowledge, Chinese National Knowledge Infrastructure (CNKI) databases to identify eligible studies, without restriction. Summary odds ratios (ORs) and 95% confidence intervals (CIs) were used to evaluate the susceptibility to celiac disease. RESULTS: A total of 11 studies with 1147 cases and 1774 controls were selected for this meta-analysis. The pooled results indicated that TNF-α -308G>A polymorphism was associated with increased risk of celiac disease (A vs G: OR=2.077, 95% CI=1.468-2.939, P=≤0.001; AA vs GG: OR=8.512, 95% CI=3.740-19.373, P=≤0.001; AA+AG vs GG: OR=1.869, 95% CI=1.161-3.008, P=0.010; and AA+AG vs GG: OR=4.773, 95% CI=3.181-7.162, P≤0.001). Subgroup analysis by ethnicity also revealed significant association in Caucasians. In addition, there was a significant association between TNF-α -308G>A polymorphism and celiac disease risk in Italy, Spain and PCR-FRLP group studies. CONCLUSION: Our meta-analysis suggests that the TNF-α -308G>A polymorphism plays an important role in celiac disease susceptibility. However, our results are still needed to strengthen by further studies in different ethnicities and larger sample sizes.


Assuntos
Doença Celíaca/genética , Predisposição Genética para Doença/genética , Fator de Necrose Tumoral alfa/genética , Humanos , Polimorfismo de Nucleotídeo Único/genética , Fatores de Risco
15.
J Orthop ; 16(3): 234-240, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30906130

RESUMO

OBJECTIVE: To evaluate the association of ESR1 rs2234693 and rs9340799 polymorphisms with radiographic defined knee osteoarthritis (OA), a case-control and meta-analysis was performed. METHODS: A total of 25 case-control studies with 7,144 cases and 8,468 controls with were included. RESULTS: There was a significant association between rs2234693 polymorphism and radiographic knee OA under heterozygote model (CT vs. TT: OR = 1.164, 95% CI 1.053-1.286, p = 0.003). However, there was no association between rs9340799 and radiographic knee OA. In subgroup analysis by ethnicity, risk estimates were not augmented. CONCLUSIONS: Our results showed that the ESR1 rs2234693 polymorphism might be associated with radiographic defined knee OA, but not rs9340799.

16.
Arq. gastroenterol ; 56(1): 88-94, Jan.-Mar. 2019. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1001322

RESUMO

ABSTRACT BACKGROUND: There is increasing evidence to show that TNF-α -308G>A polymorphism may be a risk factor for celiac disease, but the results are inconsistent. OBJECTIVE: Thus, we aimed to perform a meta-analysis involving published studies up to January 2019 to elucidate the association. METHODS: To assess the effect of TNF-α -308G>A polymorphism on celiac disease susceptibility, we searched PubMed, ISI Web of Knowledge, Chinese National Knowledge Infrastructure (CNKI) databases to identify eligible studies, without restriction. Summary odds ratios (ORs) and 95% confidence intervals (CIs) were used to evaluate the susceptibility to celiac disease. RESULTS: A total of 11 studies with 1147 cases and 1774 controls were selected for this meta-analysis. The pooled results indicated that TNF-α -308G>A polymorphism was associated with increased risk of celiac disease (A vs G: OR=2.077, 95% CI=1.468-2.939, P=≤0.001; AA vs GG: OR=8.512, 95% CI=3.740-19.373, P=≤0.001; AA+AG vs GG: OR=1.869, 95% CI=1.161-3.008, P=0.010; and AA+AG vs GG: OR=4.773, 95% CI=3.181-7.162, P≤0.001). Subgroup analysis by ethnicity also revealed significant association in Caucasians. In addition, there was a significant association between TNF-α -308G>A polymorphism and celiac disease risk in Italy, Spain and PCR-FRLP group studies. CONCLUSION: Our meta-analysis suggests that the TNF-α -308G>A polymorphism plays an important role in celiac disease susceptibility. However, our results are still needed to strengthen by further studies in different ethnicities and larger sample sizes.


RESUMO CONTEXTO: Há evidências crescentes para mostrar que o TNF-α-308G>A polimorfismo pode ser um fator de risco para a doença celíaca, mas os resultados são inconsistentes. OBJETIVO: Por isto objetivou-se realizar uma meta-análise envolvendo estudos publicados até janeiro de 2019 para elucidar esta associação. MÉTODOS: Para avaliar o efeito do TNF-α-308G>A polimorfismo na suscetibilidade da doença celíaca, pesquisou-se os bancos de dados do PubMed, ISI Web of Knowledge e Chinese National Knowledge Infrastructure (CNKI) para identificar estudos elegíveis, sem restrições. Para avaliar a suscetibilidade à doença celíaca, foram utilizadas os odds ratio sumários (ORs) e os intervalos de confiança de 95% (ICs). RESULTADOS: Um total de 11 estudos com 1147 casos e 1774 controles foram selecionados para esta meta-análise. Os resultados agrupados indicaram que o TNF-α-308G>A polimorfismo associou-se ao aumento do risco de doença celíaca (A vs G: OR=2,077; 95% IC=1,468-2,939; P=≤0,001; AA vs GG: OR=8,512; 95% IC=3,740-19,373; P=≤0,001; AA+AG vs GG: OR=1,869; 95% IC=1,161-3,008; P=0,010; e AA+AG vs GG: OR=4,773; 95% IC=3,181-7,162; P≤0,001). A análise de subgrupos por etnia também revelou associação significativa em caucasianos. Além, havia uma associação significativa entre o TNF-α-308G>A um polimorfismo e o risco do doença celíaca na Italia, na Espanha e em estudos do grupo do PCR-FRLP. CONCLUSÃO: Nossa meta-análise sugere que o TNF-α-308G>A polimorfismo desempenha um papel importante na suscetibilidade da doença celíaca. No entanto, nossos resultados necessitam de mais dados e de serem fortalecidos por outros estudos em diferentes etnias e tamanhos amostrais maiores.


Assuntos
Humanos , Doença Celíaca/genética , Fator de Necrose Tumoral alfa , Predisposição Genética para Doença/genética , Polimorfismo de Nucleotídeo Único/genética , Fatores de Risco
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