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1.
Anaesthesia ; 75 Suppl 1: e111-e120, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31903573

RESUMO

Chronic postoperative pain is common and can have a negative impact on quality of life. Recent studies show that genetic risk factors are likely to play a role, although only gene-targeted analysis has been used to date. This is the first genome-wide association study to identify single-nucleotide polymorphisms associated with the development of chronic postoperative pain based on two independent cohorts. In a discovery cohort, 330 women scheduled for hysterectomy were genotyped. A case-control association analysis compared patients without chronic postoperative pain and the 34 who had severe chronic postoperative pain 3 months after surgery. No single-nucleotide polymorphisms reached genome-wide significance, but several showed suggestive associations with chronic postoperative pain (p < 1 × 10-5 ). Single-nucleotide polymorphisms with significance p < 1 × 10-5 were followed up in a replication cohort consisting of 203 men and women scheduled for orthopaedic or abdominal surgery. Ten of these patients developed severe chronic postoperative pain. A single-nucleotide polymorphism in NAV3 was significantly replicated with chronic postoperative pain in the replication cohort (p = 0.009). Meta-analysis revealed that two loci (IQGAP1 and CRTC3) were significantly associated with chronic postoperative pain at 3 months (IQGAP1 p = 3.93 × 10-6 ß = 2.3863, CRTC3 p = 2.26 × 10-6 , ß = 2.4209). The present genome-wide association study provides initial evidence for genetic risk factors of chronic postoperative pain and supports follow-up studies.


Assuntos
Dor Crônica/genética , Estudo de Associação Genômica Ampla/métodos , Dor Pós-Operatória/genética , Polimorfismo de Nucleotídeo Único/genética , Idoso , Feminino , Seguimentos , Humanos , Pessoa de Meia-Idade , Estudos Prospectivos
2.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(1): 75-79, 2020 Jan 10.
Artigo em Chinês | MEDLINE | ID: mdl-31922603

RESUMO

OBJECTIVE: To assess the association of JAG2 gene single nucleotide polymorphisms with the occurrence of nonsyndromic cleft lip with or without cleft palate (NSCLP) among northwest Chinese population. METHODS: A case-control study was carried out on 301 NSCLP patients and 304 healthy controls. An iMLDR(TM) genotyping technique was used to detect three single nucleotide polymorphisms (SNPs) [rs741859 (T/C), rs11621316 (A/G) and rs1057744(C/T)] of the JAG2 gene. Allelic and genotypic frequencies and haplotypic distribution among the two groups were compared. RESULTS: A significant difference was found in the frequency of C and T alleles for rs741859 between the two groups. The CT genotype of rs741859 could significantly reduce the risk for NSCLP to 65% (P< 0.05) and the risk for cleft lip with or without cleft palate (CL/P) to 62% (P< 0.05). rs11621316 and rs1057744 are in the same linkage disequilibrium (LD) region with a high degree of linkage (γ 2> 0.8), whose distribution difference between the two groups was not statistically significant (P> 0.05). CONCLUSION: The CT genotype of the JAG2 gene rs741859 may confer a protective effect for NSCLP among northwest Chinese population.


Assuntos
Fenda Labial , Fissura Palatina , Proteína Jagged-2 , Polimorfismo de Nucleotídeo Único , Estudos de Casos e Controles , China , Fenda Labial/genética , Fissura Palatina/genética , Frequência do Gene , Genótipo , Humanos , Proteína Jagged-2/genética
3.
Anticancer Res ; 40(1): 27-34, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31892550

RESUMO

BACKGROUND/AIM: Even though prostate cancer (PCa) has good prognosis, there is a discrepancy in the risk among ethnic groups, with high morbidity in African American men. Single nucleotide polymorphisms (SNPs) in interleukin 10 (IL-10) have been associated with inflammation and cancer risk. We investigated the association of five SNPs in the IL-10 promoter with clinical features such as Gleason score and smoking. MATERIALS AND METHODS: A total of 413 DNA samples were obtained from a nested case-control study of African American males who were genotyped for 5 SNPs utilizing pyrosequencing. Multiple and binary logistic regression models were applied to analyze the clinical and genotypic data. RESULTS: rs12122923 and rs1800871 were associated with PCa risk. Smoking was also found to increase the risk of PCa by 1.6-fold. rs1800893 was found to be associated with lower grades for prostate cancer. CONCLUSION: IL-10 promoter polymorphisms might be a risk factor for PCa development in smoking subjects and PCa progression.


Assuntos
Afro-Americanos/genética , Interleucina-10/genética , Polimorfismo de Nucleotídeo Único , Regiões Promotoras Genéticas , Neoplasias da Próstata/etiologia , Fumar/efeitos adversos , Idoso , Alelos , Biomarcadores , Estudos de Casos e Controles , Suscetibilidade a Doenças , Genótipo , Haplótipos , Humanos , Masculino , Pessoa de Meia-Idade , Gradação de Tumores , Neoplasias da Próstata/epidemiologia , Neoplasias da Próstata/patologia , Medição de Risco , Fatores de Risco
4.
Chemosphere ; 238: 124863, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31551201

RESUMO

Peripheral blood leukocyte telomere length in omethoate-exposed workers is related to environmental exposure and single nucleotide polymorphisms (SNPs) in genes including p21, GSTM1, miR-145, etc. However, the roles of SNPs in tankyrase (TNKS) gene in telomere length are still unknown. The aim of this study was to explore the association between SNPs in TNKS gene and telomere length in omethoate-exposed workers. Telomere length in peripheral blood leukocyte DNA from 180 omethoate-exposed workers and 115 healthy controls was measured using Real-time quantitative polymerase chain reaction (PCR). Genotyping of the selected functional and susceptible SNPs was performed by the flight mass spectrometry based on PCR and single-base extension. The analysis of covariance was performed to find effects of SNPs on telomere length. Generalized linear models were used to analyze the environment, gene, and interaction on telomere length. The results showed that telomere length in the CG + CC genotypes in rs1055328 in TNKS gene was significantly longer than that in the wild homozygous GG genotype both in exposure group (P = 0.017) and in control group (P = 0.038) after adjusting the covariates. The variables kept in the generalized linear models included omethoate-exposure (ß = 0.580, P = 0.001) and rs1055328 (CG + CC) in TNKS gene (ß = 0.339, P = 0.002). The study suggests that the prolongation of telomere length is associated with omethoate-exposure and the CG + CC genotypes in rs1055328 in TNKS gene.


Assuntos
Dimetoato/análogos & derivados , Exposição Ocupacional/efeitos adversos , Tanquirases/genética , Homeostase do Telômero/efeitos dos fármacos , Telômero/fisiologia , Adulto , Inibidor de Quinase Dependente de Ciclina p21/genética , DNA/genética , Dano ao DNA/efeitos dos fármacos , Dimetoato/toxicidade , Feminino , Genótipo , Glutationa Transferase/genética , Humanos , Leucócitos/citologia , Masculino , MicroRNAs/genética , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único/genética , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz/métodos , Telômero/genética
5.
Arch Oral Biol ; 109: 104556, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31568994

RESUMO

OBJECTIVES: To investigate the association of MSX1 rs12532 polymorphism with the risk of nonsyndromic unilateral complete cleft lip and palate (NSCLP) and tooth agenesis. MATERIALS AND METHODS: The study is comprised of 384 individuals divided into 4 groups: group 1, patients with unilateral complete NSCLP and premolar agenesis (n = 57); group 2, patients with unilateral NSCLP without tooth agenesis (n = 117); group 3, patients with premolar agenesis without oral cleft (n = 53) and group 4 (n = 157), a control group with individuals without tooth agenesis and oral cleft. Genotyping of rs12532 was carried out with Taqman chemistry, and associations were investigated using logistic regression analyses. RESULTS: Overall rs12532 allele and genotype distributions revealed no significant differences between the groups of NSCLP or tooth agenesis. CONCLUSION: Although our results are consistent with a lack of association of MSX1 rs12532 and the risk of unilateral NSCLP and tooth agenesis, further studies with additional SNPs and a more diverse ethnic cohort are warranted.


Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Fator de Transcrição MSX1/genética , Adolescente , Adulto , Alelos , Anodontia , Estudos de Casos e Controles , Criança , Feminino , Humanos , Masculino , Polimorfismo de Nucleotídeo Único , Adulto Jovem
6.
J Agric Food Chem ; 68(2): 678-685, 2020 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-31858793

RESUMO

Elaeis guineensis is a tropical oil crop and has the highest oil yield per unit area. Palm oil has high palmitic acid content and is also rich in vitamins, including vitamin E. We conducted genome-wide association studies in a diversity panel of 161 E. guineensis accessions to identify single-nucleotide polymorphisms (SNPs) linked with vitamin E and validated candidate genes in these marker-associated intervals. Based on the SNPs reported in our previous research, 47 SNP markers were detected to be significantly associated with the variation of tocopherol and tocotrienol content at a cutoff P value of 6.3 × 10-7. A total of 656 candidate genes in the flanking regions of the 47 SNPs were identified, followed by pathway enrichment analysis. Of these candidate genes, EgHGGT (homogentisate geranylgeranyl transferase) involved in the biosynthesis of tocotrienols had a higher expression level in the mesocarp compared to other tissues. Expression of the EgHGGT gene was positively correlated with the variation in α-tocotrienol content. Induced overexpression of the gene in Arabidopsis caused a significant increase in vitamin E content and production of α-tocotrienols compared to wild Arabidopsis.


Assuntos
Arecaceae/metabolismo , Genoma de Planta , Vitamina E/biossíntese , Alquil e Aril Transferases/genética , Alquil e Aril Transferases/metabolismo , Arecaceae/enzimologia , Arecaceae/genética , Vias Biossintéticas , Estudo de Associação Genômica Ampla , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Polimorfismo de Nucleotídeo Único
7.
Cancer Treat Rev ; 83: 101951, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31874446

RESUMO

Molecular profiling of tumor derived cell free DNA (cfDNA) is gaining ground as a prognostic and predictive biomarker. However to what extent cfDNA reflects the full metastatic landscape as currently determined by tumor tissue analysis remains controversial. Though technically challenging, whole exome sequencing (WES) of cfDNA enables thorough evaluation of somatic alterations. Here, we review the feasibility of WES of cfDNA and determine the sensitivity of WES-detected single nucleotide variants (SNVs) in cfDNA on individual patient data level using paired tumor tissue as reference (sharedSNVsAlltissueSNVs×100%). The pooled sensitivity was 50% (95% credible interval (CI): 29-72%). The tissue mutant allele frequency (MAF) of variants exclusively identified in tissue was significantly lower (12.5%, range: 0.5-18%) than the tissue MAF of variants identified in both tissue and cfDNA (23.9%, range: 17-38%), p = 0.004. The overall agreement (sharedSNVsAllSNVs×100%)between SNVs in cfDNA and tumor tissue was 31% (95% CI: 15-49%). The number of detected SNVs was positively correlated with circulating tumor DNA (ctDNA) fraction (p = 0.016). A sub analysis of samples with ctDNA fractions ≥ 25% improved the sensitivity to 69% (95% CI: 46-89%) and agreement to 46% (95% CI: 36-59%), suggesting that WES is mainly feasible for patients with high ctDNA fractions. Pre- and post-analytical procedures were highly variable between studies rendering comparisons problematic. In conclusion, various aspects of WES of cfDNA are largely in its investigative phase, standardization of methodologies is highly needed to bring this promising technique to its clinical potential.


Assuntos
Teorema de Bayes , Biomarcadores Tumorais/análise , Ácidos Nucleicos Livres/análise , DNA Tumoral Circulante/análise , DNA de Neoplasias/análise , Neoplasias/patologia , Biomarcadores Tumorais/genética , Ácidos Nucleicos Livres/genética , DNA Tumoral Circulante/genética , DNA de Neoplasias/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Mutação , Neoplasias/genética , Neoplasias/terapia , Polimorfismo de Nucleotídeo Único , Sequenciamento Completo do Exoma
8.
Gene ; 725: 144163, 2020 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-31639433

RESUMO

BACKGROUND: Previous studies have established that coronary artery disease is associated with excess inflammation. These studies have shown an elevation of both pro and anti-inflammatory cytokines in sufferers of coronary artery disease. There is increasing interest in the role played by the inflammasome Nod Like Receptor family pyrin domain containing 3 (NLRP3) in the aetiology of coronary artery disease. Increased severity of coronary artery disease correlates with higher levels of expression of NLRP3. Does NLRP3 polymorphisms play a role in the aetiology of coronary artery disease? METHOD: In a cohort of Vietnam War (n-299) veterans who have been previously exposed to trauma, NLRP3 polymorphisms were analysed for association with coronary calcium scores using analyses of variance. Independent t-test was used to analyse genotypes. In samples with a small representation of minor homozygotes, genotypes were combined and analysed using independent t-test. If any of the genotype analysis suggested the potential for a dominant or a recessive model the model was further explored. Hardy-Weinberg Equilibrium was calculated using Hardy-Weinberg equilibrium calculator including analysis for ascertainment bias. RESULTS: The NLRP3 polymorphism, rs10159239 was significantly associated (p = 0.001) with a higher raised coronary calcium score. The Single Nucleotide Polymorphism rs10159239 was examined by logistic regression with known risk factors for Coronary artery disease and remained significant (0.035). This is the first time rs10159239 A-allele has been associated with raised coronary calcium score. CONCLUSIONS: This is the first time rs10159239 A-allele has been associated with raised coronary calcium score. Further research is needed to replicate our results in larger well-characterised cohorts.


Assuntos
Doença da Artéria Coronariana/genética , Proteína 3 que Contém Domínio de Pirina da Família NLR/genética , Proteína 3 que Contém Domínio de Pirina da Família NLR/metabolismo , Idoso , Idoso de 80 Anos ou mais , Alelos , Proteínas de Transporte/genética , Estudos de Coortes , Doença da Artéria Coronariana/metabolismo , Citocinas/genética , Grupo com Ancestrais do Continente Europeu/genética , Feminino , Frequência do Gene/genética , Predisposição Genética para Doença/genética , Genótipo , Humanos , Inflamação/genética , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único/genética , Fatores de Risco , Veteranos , Guerra do Vietnã
9.
Zhonghua Nei Ke Za Zhi ; 59(1): 23-28, 2020 Jan 01.
Artigo em Chinês | MEDLINE | ID: mdl-31887832

RESUMO

Objective: To investigate the association of GNA11 gene polymorphisms with the risk of adult-onset non-surgical hypoparathyroidism (Ns-HypoPT). Methods: Genotyping of GNA11 single nucleotide polymorphisms (SNPs) (rs28685098, rs4806907, rs11084997 and rs78003011) was carried out in 203 patients and 209 healthy participants by sequenom MassArray iPLEX System. These SNPs are located in promoter and 3'untranslated region (3'UTR) of GNA11 gene, respectively. Results: Allele and genotype frequencies of rs11084997 in patients were significantly different from those of controls (genotype GG:60.5% vs. 49.8%, GC: 35.5% vs. 41.6%, CC: 4.0% vs. 8.6%, P=0.038; G allele 78.3% vs. 70.6%, C allele 21.7% vs. 29.4%, P=0.012), and the C allele of rs11084997 carriers had a lower risk to develops Ns-HypoPT in additive and dominant genetic models [OR=0.382 (0.160-0.915), 0.647 (0.437-0.957)]. CC-Haplotype formed by the minor alleles of rs4806907 and rs11084997 was associated with a decreased risk of Ns-HypoPT in additive, dominant and recessive genetic model [OR=0.317 (0.126-0.801), 0.640 (0.430-0.952), 0.367 (0.148-0.912)]. Conclusion: The minor allele C of rs11084997 in GNA11 gene promoter was associated with decreased risk of Ns-HypoPT in Chinese population.


Assuntos
Subunidades alfa de Proteínas de Ligação ao GTP/genética , Predisposição Genética para Doença , Hipoparatireoidismo/genética , Adulto , Alelos , Grupo com Ancestrais do Continente Asiático , Estudos de Casos e Controles , China , Subunidades alfa de Proteínas de Ligação ao GTP/metabolismo , Frequência do Gene , Genótipo , Humanos , Hipoparatireoidismo/diagnóstico , Polimorfismo de Nucleotídeo Único
10.
Gut ; 69(1): 103-111, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31023832

RESUMO

OBJECTIVE: We assessed the effect of surgical resection of colorectal cancer (CRC) on perioperative plasma vitamin D (25OHD) and C-reactive protein (CRP) level. We investigated the relationship between circulating vitamin D level and CRC survival. DESIGN: We sequentially sampled 92 patients undergoing CRC resection, and measured plasma 25OHD and CRP. For survival analyses, we assayed 25OHD and CRP in two temporally distinct CRC patient cohorts (n=2006, n=2100) and investigated the association between survival outcome, circulating vitamin D and systemic inflammatory response. RESULTS: Serial sampling revealed a postoperative fall (mean 17.3 nmol/L; p=3.6e-9) in plasma 25OHD (nadir days 1-2). CRP peaked 3-5 days postoperatively (143.1 mg/L; p=1.4e-12), yet the postoperative fall in 25OHD was independent of CRP. In cohort analyses, 25OHD was lower in the 12 months following operation (mean=48.8 nmol/L) than preoperatively (54.8 nmol/L; p=1.2e-5) recovering after 24 months (52.2 nmol/L; p=0.002). Survival analysis in American Joint Committee on Cancer stages I-III demonstrated associations between 25OHD tertile and CRC mortality (HR=0.69; 95% CI 0.46 to 0.91) and all-cause mortality (HR=0.68; 95% CI 0.50 to 0.85), and was independent of CRP. We observed interaction effects between plasma 25OHD and rs11568820 genotype (functional VDR polymorphism) with a strong protective effect of higher 25OHD only in patients with GG genotype (HR=0.51; 95% CI 0.21 to 0.81). We developed an online tool for predicted survival (https://apps.igmm.ed.ac.uk/mortalityCalculator/) that incorporates 25OHD with clinically useful predictive performance (area under the curve 0.77). CONCLUSIONS: CRC surgery induces a fall in circulating 25OHD. Plasma 25OHD level is a prognostic biomarker with low 25OHD associated with poorer survival, particularly in those with rs11568820 GG genotype. A randomised trial of vitamin D supplementation after CRC surgery has compelling rationale.


Assuntos
Biomarcadores Tumorais/sangue , Neoplasias Colorretais/cirurgia , Vitamina D/análogos & derivados , Idoso , Proteína C-Reativa/metabolismo , Estudos de Casos e Controles , Neoplasias Colorretais/sangue , Neoplasias Colorretais/genética , Feminino , Seguimentos , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Prognóstico , Receptores de Calcitriol/genética , Análise de Sobrevida , Síndrome de Resposta Inflamatória Sistêmica/sangue , Vitamina D/sangue
11.
Endocrinol. diabetes nutr. (Ed. impr.) ; 66(10): 639-646, dic. 2019. tab
Artigo em Espanhol | IBECS | ID: ibc-184791

RESUMO

Introducción: Ciertos polimorfismos de los genes de la miosina no muscular de tipo IIA (MYH9) y de la apolipoproteína L1 (APOL1) se han asociado con la enfermedad renal crónica (ERC) en distintas poblaciones. Este estudio evaluó la asociación entre los polimorfismos rs2032487 de MYH9 y rs73885319 de APOL1 con la ERC avanzada asociada a diabetes tipo 2 en una población de Gran Canaria. Material y métodos: Los polimorfismos se genotiparon en 152 pacientes con ERC avanzada (filtrado glomerular estimado [FGe] < 30 ml/min/1,73 m2) secundaria a diabetes tipo 2, 110 pacientes con diabetes tipo 2 con evolución ≥ 20 años sin ERC avanzada (FGe ≥ 45 ml/min/1,73 m2 y ausencia de proteinuria) y 292 hemodonantes sanos de más de 50 años sin ERC ni diabetes. Resultados: La frecuencia del alelo de riesgo de rs2032487 fue de 10,7% entre pacientes con diabetes y ERC avanzada, 7,1% en aquellos con diabetes sin ERC avanzada y 6,1% en los sujetos sanos, alcanzándose diferencias significativas entre el primer y el tercer grupo (P = 0,015). El 78,5% de los sujetos con ERC avanzada eran homocigotos para el alelo protector, frente al 87,9% en los otros dos grupos (P = 0,015 y P = 0,016, respectivamente). La frecuencia del alelo de riesgo del polimorfismo rs73885319 no superó el 0,5% en ninguno de los tres grupos. Conclusiones: Estos datos sugieren que el polimorfismo rs2032487 se asocia con la ERC avanzada asociada a diabetes tipo 2 en la población de Gran Canaria


Introduction: Certain polymorphisms in the non-muscle myosin IIA (MYH9) and apolipoprotein L1 (APOL1) genes have been associated to chronic kidney disease (CKD) in different populations. This study examined the association between the MHY9 rs2032487 and APOL1 rs73885319 polymorphisms and advanced CKD related to type 2 diabetes mellitus (T2DM) in a population of Gran Canaria (Canary Islands, Spain). Patients and methods: Polymorphisms were genotyped in 152 patients with advanced CKD (estimated glomerular filtration rate [eGFR] < 30 mL/min/1.73 m2) secondary to T2DM, 110 patients with T2DM onset ≥ 20 years before without advanced CKD (eGFR ≥ 45 mL/min/1.73 m2 and no proteinuria), and 292 healthy blood donors over 50 years of age without CKD or diabetes. Results: The frequency of the risk allele for rs2032487 was 10.7% in patients with diabetes and advanced CKD, 7.1% in those with diabetes but without advanced CKD, and 6.1% in healthy subjects, with significant differences between the first and third groups (P = .015). Among subjects with advanced CKD, 78.5% were homozygous for the protective allele, as compared to 87.9% in the other two groups (P = .015 and P = .016 respectively). The frequency of the risk allele for the rs73885319 polymorphism did not exceed 0.5% in any of the three groups. Conclusions: These data suggest that polymorphism rs2032487 is associated to advanced CKD related to T2DM in the population of Gran Canaria


Assuntos
Humanos , Masculino , Adulto , Pessoa de Meia-Idade , Idoso , Polimorfismo de Nucleotídeo Único , Insuficiência Renal Crônica/genética , Diabetes Mellitus Tipo 2/genética , Predisposição Genética para Doença , Insuficiência Renal Crônica/complicações , Taxa de Filtração Glomerular , Retinopatia Diabética/diagnóstico , Técnicas de Genotipagem , Razão de Chances , Análise Estatística
12.
Medicine (Baltimore) ; 98(52): e18523, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31876746

RESUMO

Prostate cancer (PCa) is a frequently diagnosed malignant solid tumor in men. The etiology of PCa has been attributed to both environmental and genetic factors. In recent years, many studies have reported that miRNA gene single-nucleotide polymorphisms (SNPs) influence the susceptibility to several diseases such as cancer. To date, the mechanisms of PCa have remained unknown. The main aim of this study was to evaluate the association between PCa susceptibility and miRNA gene SNPs. A total of 156 PCa cases and 188 control subjects were included in this case-control study. The data were collected from hospitalized cases. We collected the demographic characteristic information, which included age, body mass index, tobacco smoking, alcohol consumption, and family history of cancer. Polymorphisms were analyzed by the ligase detection reaction. Unconditional logistic and stratified analyses were used to analyze the association between these SNPs and PCa susceptibility and to calculate the adjusted odds ratios (ORs) and the 95% confidence intervals (CIs). Cox regression model and the log-rank test were used to test the association between genetic variants and the overall survival. We found that miR-23a gene polymorphism rs3745453 carrying CC homozygotes had a 4.16-fold increased risk (95% CI = 1.30-13.25) than those carrying the TT/CT genotypes (P = .02), and the C allele displayed a higher prevalence of PCa than the T allele (OR = 1.68, 95% CI = 1.16-2.45, P = .01). Moreover, miR-23a showed that the homozygous carriers of the C-variant significantly increased the risk of survival rate as compared to the carriers of the TT/CT genotype (OR = 9.67, 95% CI = 2.83-33.09, P = .001). The rs3745453 polymorphism was potentially associated with PCa in the Chinese Han population and had an interactive relationship with the environmental factors.


Assuntos
Predisposição Genética para Doença/genética , MicroRNAs/genética , Polimorfismo de Nucleotídeo Único/genética , Neoplasias da Próstata/genética , Idoso , Grupo com Ancestrais do Continente Asiático/genética , Estudos de Casos e Controles , China/epidemiologia , Homozigoto , Humanos , Masculino , Neoplasias da Próstata/epidemiologia , Fatores de Risco
13.
Medicine (Baltimore) ; 98(52): e18606, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31876763

RESUMO

The aim of the present study was to examine the association between vascular endothelial growth factor receptor 2 (VEGFR2) rs11941492 C/T polymorphism and rheumatoid arthritis (RA) risk in an eastern Chinese Han population. We examined VEGFR2 rs11941492 C/T polymorphism in 615 RA patients and 839 controls in an East Chinese Han population. The power analysis was used for evaluating the reliability of the results. Genotyping was performed using a custom-by-design 48-Plex single nucleotide polymorphism scan Kit. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using logistic regression.Our results indicated that VEGFR2 rs11941492 C/T polymorphism (TT vs CC, P = .012, OR = 0.61, 95% CI = 0.41-0.89; TT vs CT + CC, P = .017, OR = 0.63, 95% CI = 0.43-0.92) was associated with a significantly decreased risk of RA. The power analysis showed that this study had a power of 98.5% to detect the effect of rs11941492 C/T polymorphism on RA susceptibility, assuming an OR of 0.61. After stratification analysis, a decreased risk of RA was associated with VEGFR2 rs11941492 TT genotype (TT vs CC) among female patients (TT vs CC, P = .007, OR = 0.53, 95% CI = 0.33-0.84), older patients (Yr ≥55) (TT vs CC, P = .039, OR = 0.58, 95% CI = 0.35-0.97), C-reactive protein-positive patients, anti-cyclic citrullinated peptide antibody-negative patients, rheumatoid factor-positive patients (TT vs CT + CC, P = .015, OR = 0.60, 95% CI = 0.39-0.90), functional class III + IV patients, patients with a DAS28 of ≥3.20, and those with an erythrocyte sedimentation rate of <25. However, our results were obtained from only a moderate-sized sample. Studies with larger sample sizes in other ethnic populations are needed to confirm these results. The VEGFR2 rs11941492 genotype is associated with decreased susceptibility to RA.


Assuntos
Artrite Reumatoide/genética , Polimorfismo de Nucleotídeo Único/genética , Receptor 2 de Fatores de Crescimento do Endotélio Vascular/genética , Grupo com Ancestrais do Continente Asiático/genética , Estudos de Casos e Controles , China , Feminino , Predisposição Genética para Doença/genética , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Razão de Chances
14.
Medicine (Baltimore) ; 98(51): e17936, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31860948

RESUMO

Clearance of the hepatitis B surface antigen (HBsAg) is the ultimate aim of treatment for patients with chronic hepatitis B (CHB) infection. Genetic, factor age, and gender were reported to be involved in the clearance of HBsAg. However, the rate of HBsAg seroclearance in CHB patients is still low globally and few of the single-nucleotide polymorphism (SNP) had been identified to associated with HBsAg seroclearance in CHB patients.Recently, 3 associated SNPs (rs7944135, rs171941, and rs6462008) were reported in the clearance of HBsAg in the Korean population. However, these SNPs have not been investigated in the CHB Taiwanese population. In present study, these 3 SNPs were genotyped in 2565 Taiwanese CHB patients including 493 CHB patients with HBsAg seroclearance and 2072 without HBsAg seroclearance.We observed that SNP rs7944135 was solely associated with HBsAg seroclearance. Subjects with the AA genotype at rs7944135 of macrophage-expressed gene 1 had a higher susceptibility to HBsAg clearance, compared to those with the AG or GG genotype under the genotypic model (odds ratio [OR] = 1.76. 95% confidence interval [CI] = 1.14-2.72, P = .045). Furthermore, we found a 1.74-fold increased risk of acquiring HBsAg seroclearance associated with the AA genotype compared to AG + GG of rs7944135 under the recessive model (OR = 1.74. 95% CI = 1.13-2.66, P = .014). According to the cumulative fraction curve with the log-rank test revealed that patients with the AA genotype of rs7944135 showed higher susceptibility to occur HBsAg seroclearance (P = .039) and HBV DNA undetectable (P = .0074) compared to those with the AG or GG genotype.This study examined the associations of 3 SNPs (rs7944135, rs171941, and rs6462008) with HBsAg seroclearance, and we identified that rs7944135 is solely associated with HBsAg seroclearance in Taiwanese CHB patients.


Assuntos
Regulação da Expressão Gênica , Antígenos de Superfície da Hepatite B/genética , Vírus da Hepatite B/genética , Hepatite B Crônica/genética , Polimorfismo de Nucleotídeo Único/genética , Adulto , Estudos de Coortes , Intervalos de Confiança , DNA Viral/análise , DNA Viral/genética , Feminino , Genótipo , Antígenos de Superfície da Hepatite B/imunologia , Hepatite B Crônica/imunologia , Hepatite B Crônica/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Polimorfismo de Nucleotídeo Único/imunologia , Estudos Retrospectivos , Testes Sorológicos/métodos , Taiwan
15.
Medicine (Baltimore) ; 98(51): e18273, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31860974

RESUMO

BACKGROUND: Methionine synthase reductase gene (MTRR A66G) polymorphism and methionine synthase gene (MTR A2756G) polymorphism have shown an association with idiopathic male infertility risk in several ethnic populations. However, their small sample sizes and inconsistent outcomes have prevented strong conclusions. We performed a meta-analysis with published studies to evaluate the associations of the 2 single nucleotide polymorphisms (SNPs) and idiopathic male infertility risk. METHODS: A thorough literature search was performed up to Jun 21, 2019 with Medline, Embase, Web of Science, China National Knowledge Infrastructure (CNKI), China Biology Medical literature (CBM), China Science and Technology Journal Database (VIP), and Chinese literature (Wan Fang) databases. Odds ratio (OR) and 95% confidence interval (95% CI) were used to assess the strength of associations. RESULTS: Seventeen studies including 3269 cases and 3192 controls met the inclusion criteria. Our meta-analysis showed that the MTR A2756G mutation may contribute to genetic susceptibility to the risk of idiopathic male infertility in Non-Asians, but not to Asian population, whereas the MTRR A66G polymorphism may be unrelated to idiopathic male infertility in both Non-Asian and Asian populations. In the stratified analysis by infertility type, the MTR A2756G polymorphism was a risk factor for both non-obstructive azoospermia (NOA) and oligoasthenoteratozoospermia (OAT) patients. However, the MTRR A66G polymorphism is associated with risk for OAT in Asian, but not in Non-Asian population. CONCLUSION: This meta-analysis suggested that the MTR A2756G and MTRR A66G polymorphisms were risk factors for idiopathic male infertility. Studies with larger sample sizes and representative population-based cases and well-matched controls are needed to validate our results.


Assuntos
5-Metiltetra-Hidrofolato-Homocisteína S-Metiltransferase/genética , Ferredoxina-NADP Redutase/genética , Infertilidade Masculina/genética , Polimorfismo de Nucleotídeo Único/genética , Predisposição Genética para Doença/genética , Humanos , Masculino , Fatores de Risco
16.
Medicine (Baltimore) ; 98(50): e18215, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31852079

RESUMO

BACKGROUND: The influence of genetic polymorphisms on the development of gestational hypertension (GH) is unclear. The aim of this study was to examine whether single-nucleotide polymorphisms (SNPs) of the nuclear receptor subfamily 3, group C, member 2 (NR3C2) genes, rs5522, rs2070951, rs5534, s2248038, and s9992256 are associated with GH in Han Chinese women. METHOD: Sanger sequencing was used to analyze the genotypes of rs5522, rs2070951, rs5534, rs2248038, and rs9992256 loci of the NR3C2 gene in 450 patients with GH and 450 healthy controls. RESULTS: The rs5522 dominant model (odds ratio [OR] = 1.30, 95% confidence interval [CI]: 1.13-1.47, P < .001) and the recessive model (OR = 1.64, 95% CI: 1.33-1.86, P < .001) had higher GH risk. The rs2070951 dominant model (OR = 1.18, 95% CI: 1.03-1.35, P = .02) had higher risk of GH, and the recessive model (OR = 1.09, 95% CI: 0.84-1.34, P = .55) was not significant for GH risk. The rs5534 dominant model (OR = 1.25, 95% CI: 1.09-1.43, P = .001) had a higher GH risk. The rs2248038 and rs9992256 sites were not significantly related to GH risk. Gene-gene interactions at the rs5522, rs2070951, and rs5534 loci affected GH risk (OR = 1.34, 95% CI: 1.12-1.64, P < .001). CONCLUSION: The SNPs of the NR3C2 gene rs5522, rs2070951, and rs5534 are associated with GH in Han Chinese women.


Assuntos
DNA/genética , Grupos Étnicos , Predisposição Genética para Doença , Hipertensão Induzida pela Gravidez/genética , Polimorfismo de Nucleotídeo Único , Receptores de Mineralocorticoides/genética , Adulto , Alelos , Feminino , Frequência do Gene , Genótipo , Humanos , Hipertensão Induzida pela Gravidez/etnologia , Hipertensão Induzida pela Gravidez/metabolismo , Incidência , Gravidez , Receptores de Mineralocorticoides/metabolismo , Estudos Retrospectivos , Adulto Jovem
17.
Medicine (Baltimore) ; 98(51): e18518, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31861040

RESUMO

BACKGROUND: The correlation between single nucleotide polymorphism (SNP) rs12807809 in Neurogranin (NRGN) gene and Schizophrenia (SCZ) was investigated by several studies, whereas the results were conflicting. Thus, we performed the present meta-analysis to combine and analyze the available studies in order to provide a more accurate result on the association of rs12807809 polymorphism in NRGN gene and SCZ vulnerability. METHODS: A comprehensive retrieval in PubMed, EMBASE, Web of Science, Cochrane Library and Wanfang was performed for relevant studies on the relationship of rs12807809 polymorphism and SCZ. Summary odds ratios (OR) with 95% confidence interval (95% CI) were calculated in allelic, homozygous, heterozygous, dominant and recessive model to appraise the association. RESULTS: The meta-analysis included 8 studies containing 12552 SCZ cases and 34783 controls. The results showed a statistically significant correlation between SCZ and rs12807809 polymorphism in overall population in allelic model (OR = 1.10, 95%CI 1.04-1.17). However, subgroup analysis indicated the association only existed in Caucasians but not Asian. CONCLUSION: The results of present meta-analysis suggested significant association between SNP rs12807809 in NRGN gene and SCZ susceptibility in Caucasians but not Asians.


Assuntos
Neurogranina/genética , Esquizofrenia/genética , Predisposição Genética para Doença , Humanos , Polimorfismo de Nucleotídeo Único
18.
Zhonghua Yi Xue Za Zhi ; 99(47): 3720-3724, 2019 Dec 17.
Artigo em Chinês | MEDLINE | ID: mdl-31874497

RESUMO

Objective: To investigate the relationship between single nucleotide polymorphisms of opioid-related genes and high-dose opioid tolerance in patients with cancer pain. Methods: Twenty patients (high-dose opioid tolerance group, group A) who were hospitalized in Henan Cancer Hospital from June 2016 to June 2018 and who received high-dose opioid for pain control for more than 1 week were selected as case groups (group A). Thirty patients with stage Ⅳ tumors who were hospitalized in Henan Cancer Hospital and did not have opioid tolerance were randomly selected as the control group (group B). The peripheral blood samples of two groups were taken for DNA extraction. Gene polymorphisms were detected in 15 single nucleotide polymorphisms (SNP) (rs1799971, rs754891060, rs200637194, rs1045642, rs7438135, rs7439366, rs2242480, rs1080985, rs529520, rs581111, rs2234918, rs4680, rs6276, rs3732765, rs9859538) of the nine opioid receptor-related genes (OPRM1,ABCB1,UGT2B7,CYP3A4,CYP2D6,OPRD1, COMT,DRD2,P2RY12) which most likely to affect high-dose opioid tolerance in patients with cancer pain. Results: The distribution of different genotypes of rs7438135 locus in UGT2B7 gene were statistically significant between the two groups (χ(2)=9.68, P=0.004). The difference in the distribution of the different genotypes of the rs3732765 locus of the P2RY12 gene in the two groups were at the significant edge (χ(2)=5.57, P=0.05). A correlation analysis between the relevant SNP locus and the risk of high-dose opioid tolerance in cancer patients indicated that individuals with rs7438135 GA genotype in cancer patients were at 6.19 times more likely to have high doses of opioid tolerance than individuals with AA genotypes. Conclusions: The rs7438135 locus gene polymorphism of UGT2B7 gene may be a risk predictor for high-dose opioid tolerance. The rs3732765 site of the P2RY12 gene may be a potential predictor of high-dose opioid tolerance.


Assuntos
Analgésicos Opioides , Dor do Câncer , Dor do Câncer/tratamento farmacológico , Tolerância a Medicamentos , Genótipo , Humanos , Polimorfismo de Nucleotídeo Único , Receptores Opioides mu
19.
Wei Sheng Yan Jiu ; 48(6): 919-924, 2019 Nov.
Artigo em Chinês | MEDLINE | ID: mdl-31875816

RESUMO

OBJECTIVE: To investigate the association of DNA repair gene XPB, XPD and XPG gene polymorphisms and haplotypes with genetic susceptibility to lung cancer. METHODS: A case-control study was conducted, the case group was 100 lung cancer patients in Hainan Province, while the control group was 100 cases of respiratory diseases in Hainan Province. The polymorphism of XPB gene rs4150441 and rs4150434 loci, the polymorphism of the rs171140 and rs11878544 loci of the XPD gene, the XPG gene rs4771436, and the polymorphism of the rs2094258 and rs17655 loci were detected by mass spectrometry. Halopview software was used to investigate the association between XP gene polymorphism and haplotype and genetic susceptibility to lung cancer. RESULTS: The experimental result showed that the rs4150434 locus of XPB gene, the rs4771436 locus of XPG gene and the rs2094258 locus of XPG gene were associated with the genetic susceptibility of lung cancer(P < 0. 05). Among the rs4150434 loci of XPB gene, the susceptibility of individuals carrying heterozygous GA to lung cancer was 2. 071 times than wild type GG(OR = 2. 071, 95% CI = 1. 055-4. 067). The susceptibility of individuals with mutant AA to lung cancer was 2. 535 times than wild type GG(OR =2. 535, 95%CI = 1. 063-6. 044). In the rs4771436 locus of XPG gene, the susceptibility of individuals carrying mutant GG to lung cancer was 2. 494 times than wild type TT(OR = 2. 494, 95% CI = 1. 038-5. 992). In the rs2094258 locus of XPG gene, the susceptibility of individuals carrying mutant AA to lung cancer was 3. 020 times than wild type GG(OR = 3. 020, 95%CI = 1. 015-8. 980). As haplotype result show, compared with GG haplotypes of rs4150441-rs4150434 loci in XPB gene, the risk of lung cancer in GA haplotype was 3. 643 times than GG haplotype(OR = 3. 643, 95% CI = 1. 113-11. 921). Compared with GTC haplotypes of rs2094258-rs4771436-rs17655 loci in XPG gene, the risk of lung cancer in ATC haplotype was 3. 800 times than GTC haplotype(OR = 3. 800, 95%CI = 1. 073-13. 459). CONCLUSION: XPB rs4150434, XPG rs4771436, XPG rs2094258 locus polymorphism and haplotype are associated with the genetic susceptibility to lung cancer.


Assuntos
Predisposição Genética para Doença , Neoplasias Pulmonares , Estudos de Casos e Controles , Proteínas de Ligação a DNA , Genótipo , Haplótipos , Humanos , Neoplasias Pulmonares/genética , Polimorfismo de Nucleotídeo Único
20.
Chin J Physiol ; 62(5): 196-202, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31670283

RESUMO

The present study aimed to determine the association of adrenergic receptor beta-3 (ADRB3) rs4994 T>C and liver X receptor alpha (LXR-α) rs12221497 G>A polymorphism with metabolic syndrome (Met S) and the related traits in Pakistanis. Patients of Met S were recruited from the Endocrinology and Diabetic Clinic of Sheikh Zayed Hospital Lahore, over the time span of 6 months from July to December 2016. Single-nucleotide polymorphism (SNP) of ADRB3 was determined by restriction fragment length polymorphism and of LXR-α by amplification refractory mutation system polymerase chain reaction. The frequency of TT variant of ADRB3 T>C in Met S was 69 (34.5%) and in controls 89 (44.5%), frequency of TC 103 (51.5%) and 96 (48%), and of CC 28 (14%) and 15 (7.5%), respectively. In the recessive model (CC: TT + TC), CC genotype was found to be associated with the increased risk of Met S (P = 0.027; odds ratio [OR] = 2.09; confidence interval [CI] =1.08-4.03) and the association remained significant after controlling for the confounders such as age and sex. The frequency of GG variant of LXR-α G>A in Met S was 35 (17.5%) and in controls 15 (7.5%), GA 129 (64.5%) and 137 (68.5%), and AA 36 (18%) and 48 (24%), respectively. In the recessive model (GG: GA + AA), GG genotype was found to be associated with the increased risk of Met S (P = 0.004; OR = 2.52; CI = 1.33-4.80) and the association remained significant after controlling for the confounders such as age and sex. It was concluded that SNP of ADRB3 (190 T>C) and LXR-α (-115 G>A) were associated with the risk of Met S and might increase the susceptibility to the obesity-related traits.


Assuntos
Receptores X do Fígado/genética , Síndrome Metabólica , Receptores Adrenérgicos beta 3/genética , Estudos de Casos e Controles , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Síndrome Metabólica/genética , Paquistão , Polimorfismo de Nucleotídeo Único
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