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1.
Med Sci Monit ; 23: 2104-2110, 2017 May 03.
Artigo em Inglês | MEDLINE | ID: mdl-28465500

RESUMO

BACKGROUND The relationship between alcohol consumption and metabolic syndrome (MetS) remains controversial. This study investigated the relationship between alcohol consumption and MetS components and prevalence. MATERIAL AND METHODS We analyzed 10 037 subjects (3076 MetS and 6961 non-MetS) in a community-based cohort. MetS was defined according to the ATP III Guidelines. Subjects were divided according to amount of alcohol consumption; non-drinker, very light (0.1-5.0 g/day), light (5.1-15.0 g/day), moderate (15.1-30.0 g/day), and heavy drinker (>30 g/day). Multiple logistic regression models were performed to estimate odds ratios (ORs) and confidence intervals (CIs). The analyses were performed in men and women separately. SPSS statistical software was used for analyses. RESULTS The prevalence of MetS in both males and females was associated with alcohol drinking status (p<0.0001). Amount of alcohol consumption (0.1-5.0 g/day) was significantly associated with lower prevalence of MetS in both genders compared to non-drinkers. Amount of alcohol consumption (>30.0 g/day) did not show a significant association with prevalence of MetS. However, alcohol consumption (>30.0 g/day) showed an association with glucose and HDL cholesterol among the components of MetS. CONCLUSIONS Our results indicate that alcohol drinking (0.1-5.0 g/day) contributed to decrease prevalence of MetS and components, including triglyceride and HDL cholesterol.


Assuntos
Consumo de Bebidas Alcoólicas/epidemiologia , Síndrome Metabólica/epidemiologia , Adulto , Consumo de Bebidas Alcoólicas/metabolismo , Pressão Sanguínea , HDL-Colesterol , Estudos de Coortes , Pesquisa Participativa Baseada na Comunidade , Estudos Transversais , Etanol/metabolismo , Feminino , Humanos , Modelos Logísticos , Masculino , Síndrome Metabólica/metabolismo , Pessoa de Meia-Idade , Razão de Chances , Prevalência , República da Coreia , Fatores de Risco , Triglicerídeos
2.
Med Sci Monit ; 23: 1880-1885, 2017 Apr 19.
Artigo em Inglês | MEDLINE | ID: mdl-28422086

RESUMO

BACKGROUND Secretoglobin family 3A member 2 (SCGB3A2) plays an important role in secreting lung surfactant protein, which is a downstream target of thyroid transcription factor. MATERIAL AND METHODS We investigated whether single-nucleotide polymorphisms (SNPs) of SCGB3A2 gene contribute to susceptibility to asthma. To explore this possible association, 2 promoter SNPs (rs6882292, 659 G/A and rs1368408, -112 G/A) and missense SNP (rs151333009, stop codon) were tested in SCGB3A2 gene in 101 asthma patients and 377 healthy control subjects. SNPStats was used to obtain odds ratio (OR), 95% confidence intervals (CI), and P value adjusted for age and sex as covariables. Logistic regression method in each model (dominant, recessive, and log-additive) was applied to analyze genetic data. RESULTS rs151333009 SNP showed a monomorphic genotype. Two promoter SNPs (rs6882292, -659 G/A and rs1368408, -112 G/A) showed significant association with asthma (rs6882292, OR=2.66, 95% CI=1.42-5.01, p=0.0033 in dominant model, OR=2.45, 95% CI=1.33-4.54, p=0.0055 in log-additive model; rs1368408, OR=1.59, 95% CI=1.02-2.49, p=0.041 in dominant model, OR=3.02, 95% CI=1.15-7.90, p=0.03 in recessive model, OR=1.63, 95% CI=1.63, 95% CI=1.12-2.37, p=0.012 in log-additive model). CONCLUSIONS These results suggest that the promoter SNPs (rs6882292 and rs1368408) of SCGB3A2 gene may contribute to susceptibility to asthma in a Korean population.


Assuntos
Asma/genética , Secretoglobinas/genética , Adulto , Povo Asiático/genética , Asma/metabolismo , Estudos de Casos e Controles , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Polimorfismo de Nucleotídeo Único , Regiões Promotoras Genéticas , República da Coreia , Secretoglobinas/metabolismo
3.
Neurol Sci ; 37(6): 983-5, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26846416

RESUMO

Cytokines and their receptors are involved in the development of intracerebral hemorrhage (ICH). Interleukin 23 receptor (IL23R) has been implicated in numerous inflammatory and immune diseases. In this study, we investigated whether single nucleotide polymorphisms (SNPs) of IL23R were associated with the susceptibility of ICH in Korean population. Two coding region SNPs (cSNPs) [rs1884444 (Gln3His), and rs7530511 (Leu310Pro)] were selected, and genotyped in 167 ICH patients and 377 control subjects using direct sequencing. Of two cSNPs, only rs7530511 showed a significant association with ICH in codominant model (C/T vs. C/C, P = 0.017, odds ratio (OR) 4.15, 95 % confidential interval (CI) 1.27-13.58). Allele frequency analysis also revealed that rs7530511 was associated with ICH (P = 0.023, OR 3.68, 95 % CI 1.19-11.32). The frequency of the T allele was increased in the ICH patients, compared to the control subjects. These results suggest that IL23R may contribute to the development of ICH.


Assuntos
Hemorragia Cerebral/genética , Predisposição Genética para Doença/genética , Polimorfismo de Nucleotídeo Único/genética , Receptores de Interleucina/genética , Adulto , Idoso , Feminino , Frequência do Gene , Estudos de Associação Genética , Genótipo , Haplótipos , Humanos , Masculino , Pessoa de Meia-Idade , Razão de Chances , República da Coreia
4.
Med Sci Monit ; 22: 4345-4353, 2016 Nov 14.
Artigo em Inglês | MEDLINE | ID: mdl-27840402

RESUMO

BACKGROUND Ischemic stroke and myocardial infarction are fatal diseases and are among the top 10 causes of death in Korea, including arterial thromboembolic events. Many previous studies have described the function of interleukin-6 (IL-6) in arterial thromboembolic events and the association between promoter single-nucleotide polymorphism (SNP) (rs1800795; -174, G/C) of the IL-6 gene. However, these results were controversial. Therefore, we performed a meta-analysis to more precisely assess the association between the SNP of the IL-6 gene and susceptibility to arterial thromboembolic events. MATERIAL AND METHODS We used PubMed, Embase, Google Scholar, and Korean Studies Information Service System (KISS) electronic databases. Comprehensive Meta-analysis software (Corporation, NJ) was used to evaluate the relationship between rs1800795 SNP of IL-6 gene and risk of arterial thromboembolic events. Odds ratio (OR), 95% confidence interval (CI), and P value were also calculated. The 13 eligible studies were analyzed in the meta-analysis. RESULTS The present meta-analysis found that rs1800795 SNP of IL-6 gene is not significantly associated with susceptibility to arterial thromboembolic events (C allele vs. G allele, OR=1.04, 95% CI=0.91-1.19, P=0.619; CC vs. CG+GG, OR=1.09, 95% CI=0.91-1.31, P=0.364; CC+CG vs. GG, OR=0.97, 95% CI=0.78-1.21, P=0.763, respectively), and the SNP of IL-6 gene also did not show any significant association with ischemic stroke or myocardial infarction (P>0.05 in each model). CONCLUSIONS We found that rs1800795 SNP of IL-6 gene was not related to arterial thromboembolic events. However, further study will be needed to confirm these results.


Assuntos
Interleucina-6/genética , Infarto do Miocárdio/genética , Tromboembolia/genética , Alelos , Predisposição Genética para Doença , Humanos , Interleucina-6/metabolismo , Infarto do Miocárdio/metabolismo , Polimorfismo de Nucleotídeo Único , Regiões Promotoras Genéticas/genética , Acidente Vascular Cerebral/genética , Acidente Vascular Cerebral/metabolismo , Tromboembolia/metabolismo
5.
J Korean Med Sci ; 31(3): 430-4, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26955245

RESUMO

To investigate the contribution of the interleukin-6 receptor (IL-6R) gene single nucleotide polymorphisms (SNPs) to the neurological status of Korean patients with ischemic stroke (IS), two SNPs of the IL-6R gene (rs4845617, 5 UTR; rs2228144, Ala31Ala) were selected. IS patients were classified into clinical phenotypes according to two well-defined scores: the National Institutes of Health Stroke Survey (NIHSS) and the Modified Barthel Index scores. There were 121 IS patients and 291 control subjects. The SNP rs4845617 significantly contributed to the neurological status of patients with IS (P = 0.011 in codominant model 2, P = 0.006 in recessive model, and P = 0.008 in log-additive model). Allele frequencies of rs4845617 and rs2228144 demonstrated no significant difference in IS patients and controls. The AG and GG haplotypes differed between the NIHSS 1 (NIHSS scores < 6) group and the NIHSS 2 (NIHSS scores ≥ 6) group in patients with IS (P = 0.014, P = 0.0024). These results suggest that rs4845617 of the IL-6R gene is associated with the neurologic status of Korean patients with IS.


Assuntos
Povo Asiático/genética , Receptores de Interleucina-6/genética , Acidente Vascular Cerebral/genética , Idoso , Alelos , Feminino , Frequência do Gene , Genótipo , Haplótipos , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Fenótipo , Polimorfismo de Nucleotídeo Único , República da Coreia , Índice de Gravidade de Doença , Acidente Vascular Cerebral/patologia
6.
Int J Mol Sci ; 17(8)2016 Jul 29.
Artigo em Inglês | MEDLINE | ID: mdl-27483248

RESUMO

The insulin-like growth factor (IGF) pathway is thought to play an important role in brain development. Altered levels of IGFs and their signaling regulators have been shown in autism spectrum disorder (ASD) patients. In this study, we investigated whether coding region single-nucleotide polymorphisms (cSNPs) of the insulin receptor substrates (IRS1 and IRS2), key mediators of the IGF pathway, were associated with ASD in Korean males. Two cSNPs (rs1801123 of IRS1, and rs4773092 of IRS2) were genotyped using direct sequencing in 180 male ASD patients and 147 male control subjects. A significant association between rs1801123 of IRS1 and ASD was shown in additive (p = 0.022, odds ratio (OR) = 0.66, 95% confidence interval (CI) = 0.46-0.95) and dominant models (p = 0.013, OR = 0.57, 95% CI = 0.37-0.89). Allele frequency analysis also showed an association between rs1801123 and ASD (p = 0.022, OR = 0.66, 95% CI = 0.46-0.94). These results suggest that IRS1 may contribute to the susceptibility of ASD in Korean males.


Assuntos
Transtorno do Espectro Autista/genética , Proteínas Substratos do Receptor de Insulina/genética , Polimorfismo de Nucleotídeo Único/genética , Adolescente , Adulto , Povo Asiático/genética , Estudos de Casos e Controles , Humanos , Masculino , Projetos Piloto , Prognóstico
7.
Cytokine ; 71(2): 283-8, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25484349

RESUMO

BACKGROUND: Although numerous recent studies have implicated a role for interleukin 17(IL17) in tumor development, the mechanisms of IL17 involvement are still uncharacterized. The aims of this study were to determine whether single nucleotide polymorphisms (SNPs) in IL17 and IL17R contribute to the development of papillary thyroid cancer (PTC) and to assess the relationship between IL17 and IL17R SNPs and the clinicopathologic characteristics of PTC. MATERIALS AND METHODS: Eight SNPs located within the IL17A, IL17RA, and IL17RB genes were genotyped using direct sequencing in 94 patients with PTC and 260 patients without PTC (controls). Genetic data were analyzed using commercially available software. Statistical analyses were then performed to examine the relationships between these SNPs and the clinicopathologic characteristics of PTC. RESULTS: Genotyping analysis demonstrated that the IL17RA SNP rs4819554 (codominant model 1, odds ratio (OR)=0.39, P=0.001) and the IL17RB SNP rs1025689 (dominant model, OR=0.59, P=0.043) were significantly associated with lack of PTC. Interestingly, the IL17A SNP rs2275913 (codominant model 2, OR=0.19, P=0.034) was significantly associated with lack of multifocality. Furthermore, the IL17RA SNP rs4819554 (dominant model, OR=0.25, P=0.010) was significantly associated with lack of cancer bilaterality. CONCLUSION: In this study of SNPs in the IL17 and IL17R genes in patients with PTC, we demonstrated that IL17RA polymorphisms can influence both the development and the bilaterality of PTC.


Assuntos
Interleucina-17/genética , Polimorfismo de Nucleotídeo Único , Receptores de Interleucina-17/genética , Neoplasias da Glândula Tireoide/genética , Adulto , Idoso , Alelos , Sequência de Bases , Estudos de Casos e Controles , Feminino , Frequência do Gene , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Razão de Chances , República da Coreia , Software , Neoplasias da Glândula Tireoide/etnologia
8.
BMC Complement Altern Med ; 15: 380, 2015 Oct 22.
Artigo em Inglês | MEDLINE | ID: mdl-26490686

RESUMO

BACKGROUND: Benign prostatic hyperplasia (BPH) is one of the common male diseases, which is provoked by dihydrotestosterone (DHT) and androgen signals. Several studies showed that curcumin has various effects of prevention and treatment to diseases. We investigated whether curcumin may repress the development of BPH in male Wistar rats. METHODS: Seven weeks male Wistar rats were and divided into 4 groups (normal group, BPH group, finasteride group, curcumin group; n = 8 for each group). In order to induce BPH in rats, rats were castrated and testosterone was injected subcutaneously everyday (s.c., 20 mg/kg). Rats in the curcumin group were treated 50 mg/kg, administered orally for 4 weeks. After 4 weeks, all rats were sacrificed and their prostate and serum were analyzed. RESULTS: Compared to the finasteride group as positive group, the curcumin group showed similarly protective effect on BPH in histopathologic morphology, prostate volume. Results of immunohistochemistry and western-blot showed decreased expressions of VEGF, TGF-ß1, and IGF1 were also decreased in the curcumin group. CONCLUSIONS: These results suggested that curcumin inhibited the development of BPH and might a useful herbal treatment or functional food for BPH.


Assuntos
Anti-Inflamatórios não Esteroides/farmacologia , Curcumina/farmacologia , Próstata/efeitos dos fármacos , Hiperplasia Prostática/tratamento farmacológico , Análise de Variância , Animais , Biomarcadores/metabolismo , Glicemia/efeitos dos fármacos , Western Blotting , Peso Corporal/efeitos dos fármacos , Modelos Animais de Doenças , Imuno-Histoquímica , Fator de Crescimento Insulin-Like I/metabolismo , Masculino , Hiperplasia Prostática/metabolismo , Hiperplasia Prostática/patologia , Ratos , Ratos Wistar , Testosterona/sangue , Fator de Crescimento Transformador beta1/metabolismo , Fator A de Crescimento do Endotélio Vascular/metabolismo
9.
Int J Mol Sci ; 16(8): 19602-11, 2015 Aug 19.
Artigo em Inglês | MEDLINE | ID: mdl-26295386

RESUMO

The association between polymorphisms of glutathione-related enzyme (GST) genes and the risk of schizophrenia has been investigated in many published studies. However, their results were inconclusive. Therefore, we performed a meta-analysis to explore the association between the GSTM1, GSTT1, and GSTP1 polymorphisms and the risk of schizophrenia. Twelve case-control studies were included in this meta-analysis. The odds ratio (OR) and 95% confidence interval (95% CI) were used to investigate the strength of the association. Our meta-analysis results revealed that GSTM1, GSTT1, and GSTP1 polymorphisms were not related to risk of schizophrenia (p > 0.05 in each model). Further analyses based on ethnicity, GSTM polymorphism showed weak association with schizophrenia in East Asian population (OR = 1.314, 95% CI = 1.025-1.684, p = 0.031). In conclusion, our meta-analysis indicated the GSTM1 polymorphism may be the only genetic risk factor for schizophrenia in East Asian population. However, more meta-analysis with a larger sample size were needed to provide more precise evidence.


Assuntos
Glutationa S-Transferase pi/genética , Glutationa Transferase/genética , Polimorfismo Genético , Esquizofrenia/genética , Povo Asiático/etnologia , Povo Asiático/genética , Ásia Oriental , Predisposição Genética para Doença , Humanos , Esquizofrenia/etnologia
10.
Clin Transplant ; 28(6): 707-12, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24654912

RESUMO

Recent studies have shown that single-nucleotide polymorphisms (SNPs) are associated with allograft rejection in kidney transplantation recipients. We evaluated the possible association between SNPs of the cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1) gene, and acute rejection (AR) among renal transplant patients in a Korean population. We conducted a case-control association study in 63 AR and 284 non-AR kidney transplant recipients. The SNPs of CYP2E1 were genotyped by direct sequencing. Recipient sex (p = 0.023) and the use of tacrolimus (p = 0.017) were significantly different between the two groups. The use of mycophenolate mofetil (MMF) and antibody induction therapy was significantly lower in the AR group. Multiple logistic regression models (codominant, dominant, recessive, and log-additive models) adjusted by sex and type of immunosuppressive regimens were applied to determine the odds ratios (ORs), 95% confidence intervals (CIs), and p-values. The rs2515641 of CYP2E1 showed significant differences between the AR patient group and non-AR group (p = 0.003, OR = 2.55, 95% CI = 1.37-4.75 in the codominant 1 model; p = 0.002, OR = 2.61, 95% CI = 1.43-4.77 in the dominant model; p = 0.0035, OR = 2.13, 95% CI = 1.29-3.50 in the log-additive model). The allele of the rs2515641 SNP also showed a significant association (p = 0.004, OR = 1.99, 95% CI = 1.24-3.21). This study suggests that the CYP2E1 polymorphism may be related to the development of AR in Korean kidney transplantation recipients.


Assuntos
Citocromo P-450 CYP2E1/genética , Estudos de Associação Genética , Rejeição de Enxerto/genética , Haplótipos/genética , Transplante de Rim , Polimorfismo de Nucleotídeo Único/genética , Adulto , Estudos de Casos e Controles , Feminino , Seguimentos , Taxa de Filtração Glomerular , Humanos , Falência Renal Crônica/cirurgia , Testes de Função Renal , Desequilíbrio de Ligação , Masculino , Prognóstico , Fatores de Risco
11.
Immunol Invest ; 43(3): 212-23, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24303776

RESUMO

The heat shock 70 kDa protein 1B (HSPA1B), which has been well-studied among the famous heat shock proteins HSPA1A/B/L, is related to autoimmune diseases, including Alopecia Areata (AA). In this study, the association of a 5'-untranslated region (5'UTR) SNP rs6457452 and a promoter SNP rs2763979 (-1140C > T) of HSPA1B with AA was investigated in 236 controls and 228 AA patients. Statistical analyses using the multiple logistic models were done, according to the onset and the clinical features of AA, including the age of onset, family history, type of AA lesion, nail involvement and body hair involvement. The results showed that rs6457452 was associated with the onset of AA (p < 0.002). In the analysis of clinical features of AA, rs6457452 was weakly related to the age of onset (p ≤ 0.04) and that rs2763979 was only weakly related to the type of AA lesion (p = 0.041). In conclusion, we suggest that the 5'UTR SNP rs6457452 of HSPA1B may be associated with the onset of AA and the T allele of rs6457452 may confer the reduced susceptibility to AA in the Korean population.


Assuntos
Alopecia em Áreas/epidemiologia , Alopecia em Áreas/genética , Proteínas de Choque Térmico HSP70/genética , Regiões 5' não Traduzidas/genética , Adolescente , Adulto , Idade de Início , Alopecia em Áreas/imunologia , Análise Mutacional de DNA , Progressão da Doença , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Masculino , Polimorfismo de Nucleotídeo Único , Regiões Promotoras Genéticas/genética , Adulto Jovem
12.
Mol Biol Rep ; 41(5): 3457-64, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24510409

RESUMO

Monoamine oxidase A (MAOA) catalyzes monoamine neurotransmitters including dopamine, 5-hydroxytryptamine (5-HT, serotonin), and norepinephrine. MAOA also plays a key role in emotional regulation. The aim of this study was to investigate the associations between the exonic single nucleotide polymorphisms (SNPs) of the MAOA gene located on the X chromosome and schizophrenia. We also analyzed the relationships between these SNPs and the common clinical symptoms of schizophrenia such as persecutory delusion, auditory hallucinations, affective disturbances, and poor concentration. Two hundred seventy five Korean schizophrenia patients and 289 control subjects were recruited. Three SNPs [rs6323 (Arg294Arg), rs1137070 (Asp470Asp), and rs3027407 (3'-untranslated region)] of the MAOA gene were selected and genotyped by direct sequencing. The common clinical symptoms of schizophrenia according to the Operation Criteria Checklist were analyzed. Three examined SNPs showed no associations with male and female schizophrenia, respectively (p>0.05). In the analysis of the common clinical symptoms of schizophrenia patients, three examined SNPs were associated with affective disturbances, especially restricted affect and blunted affect in male schizophrenia, respectively (restricted affect, p=0.002, OR=2.71, 95% CI 1.45-5.00; blunted affect, p=0.009, OR 2.25, 95% CI 1.22-4.12). The SNPs were not associated with other clinical symptoms of schizophrenia (persecutory delusion, auditory hallucinations, and poor concentration). These results suggest that exonic SNPs (rs6323, rs1137070, and rs3027407) of the MAOA gene may be contributed to affective disturbances of Korean males schizophrenia, especially restricted affect and blunted affect.


Assuntos
Monoaminoxidase/genética , Polimorfismo Genético , Esquizofrenia/genética , Adulto , Alelos , Estudos de Casos e Controles , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Genótipo , Haplótipos , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , República da Coreia , Esquizofrenia/diagnóstico
13.
Scand J Clin Lab Invest ; 74(4): 329-35, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24621205

RESUMO

BACKGROUND: Apoptosis plays an important role in the mechanism regulating the development of glomerulonephritis. We investigated whether polymorphisms of apoptotic genes such as B-cell CLL/lymphoma 2 (BCL2), BH3-interacting domain death agonist (BID), and caspase 8 (CASP8) were associated with immunoglobulin A nephropathy (IgAN) and with the clinical phenotypes of IgAN patients. METHODS: We genotyped promoter and coding region single nucleotide polymorphisms (SNPs) (rs2279115 and rs1801018 for BCL2; rs8190315 and rs2072392 for BID; and rs6747918 and rs1045487 for CASP8) using direct sequencing in 195 IgAN patients and 289 control subjects. RESULTS: No SNPs were associated with IgAN. However, in analysis of clinical phenotypes, we found that rs8190315 and rs2072392 of BID were associated with proteinuria levels of IgAN patients in additive (AG vs. GG vs. AA, p = 0.0008 for rs8190315; TC vs. CC vs. TT, p = 0.0012 for rs2072392) and dominant models (AG/GG vs. AA, p = 0.0014 for rs8190315; TC/CC vs. TT, p = 0.0031 for rs2072392). In particular, the frequencies of genotypes containing minor alleles of rs8190315 (G allele) and rs2072392 (C allele) were increased in IgAN patients with higher protienuria levels (> 40 mg/m(2)/h). CONCLUSION: These results suggest that BID may play a role in severe IgAN.


Assuntos
Proteína Agonista de Morte Celular de Domínio Interatuante com BH3/genética , Glomerulonefrite por IGA/genética , Polimorfismo de Nucleotídeo Único , Proteinúria/genética , Adolescente , Estudos de Casos e Controles , Caspase 8/genética , Criança , Feminino , Predisposição Genética para Doença , Glomerulonefrite por IGA/complicações , Humanos , Modelos Logísticos , Masculino , Proteinúria/etiologia , Proteínas Proto-Oncogênicas c-bcl-2/genética
14.
J Clin Lab Anal ; 28(5): 391-7, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24652774

RESUMO

BACKGROUND: FOS has been implicated in the progression of renal disease including IgAN. In this study, we investigated whether polymorphisms of FOS family genes [FOS, FOSB, FOS-like antigen 1 (FOSL1), and FOSL2] were associated with immunoglobulin A nephropathy (IgAN) and the clinical phenotypes of IgAN patients. METHODS: We genotyped single nucleotide polymorphisms (SNPs) of FOS family genes (rs2239615 and rs7101 for FOS, rs12373539 and rs2282695 for FOSB, rs637571 for FOSL1, and rs925255 for FOSL2) using direct sequencing in 198 IgAN patients and 290 control subjects. RESULTS: No SNPs were associated with IgAN; however, in the analysis of clinical phenotypes, we found that rs637571 of FOSL1 was associated with podocyte foot process effacement of IgAN in additive (CT vs. TT vs. CC, P = 0.0031, OR = 2.08, 95% CI = 1.27-3.40) and dominant models (CT/TT vs. CC, P = 0.0034, OR = 2.50, 95% CI = 1.35-4.64). The frequency of genotypes containing the T allele was increased in IgAN patients with podocyte foot process effacement, compared to those without podocyte foot process effacement. CONCLUSION: These results suggest that FOSL1 may be related to IgAN severity.


Assuntos
Predisposição Genética para Doença/genética , Glomerulonefrite por IGA/genética , Glomerulonefrite por IGA/patologia , Polimorfismo de Nucleotídeo Único/genética , Proteínas Proto-Oncogênicas c-fos/genética , Adolescente , Adulto , Criança , Feminino , Frequência do Gene , Estudos de Associação Genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Podócitos/metabolismo , Adulto Jovem
15.
Neuropsychobiology ; 68(4): 212-20, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24192574

RESUMO

BACKGROUND: Autism spectrum disorder (ASD) is a neurobiological disorder characterized by distinctive impairments in cognitive function, language, and behavior. Linkage and population studies suggest a genetic association between solute carrier family 6 member 4 (SLC6A4) variants and ASD. METHOD: Logistic regression was used to identify associations between single-nucleotide polymorphisms (SNPs) and ASD with 3 alternative models (additive, dominant, and recessive). Linear regression analysis was performed to determine the influence of SNPs on Childhood Autism Rating Scale (CARS) scores as a quantitative phenotype. RESULTS: In the present study, we examined the associations of SNPs in the SLC6A4 gene and the fibrinogen alpha chain (FGA) gene. Logistic regression analysis showed a significant association between the risk of ASD and rs2070025 and rs2070011 in the FGA gene. The gene-gene interaction between SLC6A4 and FGA was not significantly associated with ASD susceptibility. However, polymorphisms in both SLC6A4 and the FGA gene significantly affected the symptoms of ASD. CONCLUSION: Our findings indicate that FGA and SLC6A4 gene interactions may contribute to the phenotypes of ASD rather than the incidence of ASD.


Assuntos
Povo Asiático/genética , Transtorno Autístico/genética , Fibrinogênio/genética , Predisposição Genética para Doença/genética , Proteínas da Membrana Plasmática de Transporte de Serotonina/genética , Adolescente , Adulto , Estudos de Casos e Controles , Epistasia Genética/genética , Feminino , Humanos , Masculino , Fenótipo , Polimorfismo de Nucleotídeo Único/genética , Adulto Jovem
16.
Immunol Invest ; 42(5): 423-30, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23802172

RESUMO

Interferons (IFNs) are related to autoimmune responses. IFN-epsilon (IFNE) is included in IFN family, and may modulate immunological functions. Inflammation modulating functions of IFNE may be related with the pathophysiology of vitiligo. To investigate the association of nonsense polymorphism (rs2039381, Gln71Stop) of interferon-ε (IFNE) and susceptibility to vitiligo, we conducted a case-control association study in 265 non-segmental vitiligo (NSV) patients and 320 healthy controls. The nonsense single nucleotide polymorphism (SNP) (rs2039381, Gln71Stop) of IFNE was genotyped by direct sequencing. Multiple logistic regression models (log-additive, dominant, and recessive models) were applied to determine odds ratios (OR), 95% confidence interval (CI), and p values. The rs2039381 (Gln71Stop) of IFNE did not show significant differences between NSV patient group and control group. However, we found that in childhood onset NSV groups, the IFNE nonsense polymorphism (rs2039381, Gln71Stop) showed a significant association. There was significantly different distribution of nonsense polymorphism of rs2039381 (Gln71Stop) of IFNE between NSV patients (childhood <18 years) and control subjects. This study suggests that rs2039381 (Gln71Stop) polymorphism of IFNE may be related to onset time of vitiligo in NSV patients.


Assuntos
Interferons/genética , Vitiligo/epidemiologia , Vitiligo/genética , Adulto , Idade de Início , Estudos de Casos e Controles , Criança , Códon sem Sentido/genética , Análise Mutacional de DNA , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Genótipo , Humanos , Coreia (Geográfico) , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Adulto Jovem
17.
Immunol Invest ; 42(4): 285-95, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23883197

RESUMO

Transforming growth factor-ß (TGF-ß) signaling transduction initiates TGF-ß activation, resulting in activation of TGF-ß receptor II (TGFBR2). Any quantitative and qualitative changes in TGFBR2 are expected to affect the TGF-ß signaling pathway, which occupies a central position with respect to the regulation of cell growth, differentiation, apoptosis, immune reaction, angiogenesis and extracellular matrix formation. Recent studies have shown that TGF-ß1 gene polymorphisms may confer susceptibility to early acute and chronic allograft rejection in kidney transplantation recipients. In this study, we assessed whether polymorphisms of the TGFBR2 gene were associated with susceptibility to kidney transplantation rejection. A total of 347 renal allograft recipients transplanted at three centers in Korea were analyzed. Three SNPs (rs764522, rs3087465, rs2228048) of the TGFBR2 gene were genotyped from genomic DNA with direct sequencing. Multiple logistic regression models (codominant, dominant, recessive, and log-additive) were performed to evaluate odds ratios (ORs), 95% confidence intervals (CIs), and p-values. A total of 63 patients (18%) developed acute rejection (AR). There were no significant differences in age, sex, number of HLA mismatches, cause of renal failure, or immunosuppressant regimen between the AR and non-AR group. The synonymous SNP rs2228048 was significantly associated with AR (p = 0.020 in recessive model, and p = 0.036 in log-additive model. The allele frequencies of rs2228048 were different between the AR and non-AR group (p = 0.026). These results suggest that the synonymous TGFBR2 gene SNP rs2228048 may be associated with the development of AR in Korean kidney transplantation recipients. Authors Yeong-Hoon Kim and Tae Hee Kim contributed equally to this work and are considered co-first authors.


Assuntos
Povo Asiático/genética , Rejeição de Enxerto/genética , Transplante de Rim , Proteínas Serina-Treonina Quinases/genética , Receptores de Fatores de Crescimento Transformadores beta/genética , Adulto , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Receptor do Fator de Crescimento Transformador beta Tipo II
18.
Kidney Blood Press Res ; 37(2-3): 95-102, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23594830

RESUMO

BACKGROUND: Post-transplant diabetes mellitus (PTDM) is a common and serious metabolic complication. Genetic polymorphisms of angiotensin-converting enzyme (ACE) and angiotensinogen (AGT) genes have been reported to be related to diabetes mellitus and insulin sensitivity; however, the role of these genes in the development of PTDM is not known. For this purpose, we investigated the association of ACE and AGT genetic polymorphisms with PTDM. METHODS: A total of 302 subjects without previously diagnosed diabetes who had received kidney transplants were included. One ACE single nucleotide polymorphism (SNP) (rs4291) and two AGT SNPs (rs 699 and rs 4762) were genotyped from genomic DNA with direct sequencing. RESULTS: PTDM developed in 49 (16.2%) of 302 subjects. Subjects in the PTDM were older than those in the non-PTDM. There was a significant difference between the two groups in tacrolimus use (p=0.03). Of the three SNPs, the rs4762 of the AGT gene was significantly associated with the development of PTDM in the dominant models (p = 0.03) after adjusting for age and tacrolimus usage. CONCLUSIONS: AGT gene rs4762 polymorphisms may serve as genetic markers for the development of PTDM. The exact molecular mechanisms still need to be clarified.


Assuntos
Angiotensinogênio/genética , Diabetes Mellitus/genética , Transplante de Rim/estatística & dados numéricos , Polimorfismo Genético/genética , Idoso , Povo Asiático , Primers do DNA , Diabetes Mellitus/epidemiologia , Feminino , Frequência do Gene , Genótipo , Haplótipos , Humanos , Imunossupressores/efeitos adversos , Imunossupressores/uso terapêutico , Masculino , Pessoa de Meia-Idade , Peptidil Dipeptidase A/genética , Reação em Cadeia da Polimerase , Polimorfismo de Nucleotídeo Único/genética , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/genética , República da Coreia/epidemiologia , Tacrolimo/efeitos adversos , Tacrolimo/uso terapêutico
19.
J Nanosci Nanotechnol ; 13(11): 7279-86, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-24245243

RESUMO

Achilles tendons are vulnerable to acute or chronic injuries that lead to inflammation. We investigated nanostructural and nanomechanical changes in collagen fibrils from rat Achilles tendons over a period of 9 weeks after injury using atomic force microscopy (AFM). To evaluate the nanostructural changes in Achilles tendons, we measured the diameter and D-banding of collagen fibrils by AFM. And the adhesion forces, which were related to cross-linking of collagen, were calculated from the retraction process of a force-distance curve. We successfully observed the time course of changes in collagen fibrils during healing using AFM. The diameters and D-banding in healed tendons were similar to those of uninjured tendons at 9 weeks after injury, but the adhesion forces remained different from those of uninjured tendons. Our AFM results depicted the minute changes in Achilles tendon surface by natural healing quite well, even drawbacks to naturally healed tendon. Understanding changes in collagen cross-linking and structure while healing will lead to better understanding of healing mechanisms and subsequent improvements in treatment. And AFM can be applied as powerful tool to evaluate structural and property changes in collagen fibrils before and after injury and/or treatment in Achilles tendon.


Assuntos
Tendão do Calcâneo/patologia , Tendão do Calcâneo/fisiopatologia , Colagenases , Colágenos Fibrilares/química , Colágenos Fibrilares/ultraestrutura , Tendinopatia/patologia , Tendinopatia/fisiopatologia , Tendão do Calcâneo/efeitos dos fármacos , Animais , Módulo de Elasticidade , Masculino , Mecanotransdução Celular , Ratos , Ratos Sprague-Dawley , Tendinopatia/induzido quimicamente , Resistência à Tração
20.
Hepatogastroenterology ; 60(124): 796-8, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23732778

RESUMO

BACKGROUND/AIMS: The aim of this study was to determine whether the major HLA-G gene was associated with hepatocellular carcinoma (HCC). Abnormal HLA-G expression is present in various diseases, such as renal cell carcinoma, asthma and classical Hodgkin's lymphoma. METHODOLOGY: To investigate the possible association with susceptibility to HCC, 181 chronic hepatitis patients and 180 HCC patients were enrolled in this study. The HLA-G 14-bp insertion/deletion polymorphism is located in the 3' untranslated region of the HLA-G gene and was analyzed using polymerase chain reaction. For analysis of genetic data, SNPStats and SPSS 18.0 were used. Logistic regression models were performed to determine the odds ratio, 95% confidence interval, and p value. RESULTS: Allele and genotype frequencies of the HLA-G 14-bp insertion/deletion polymorphism in the hepatitis group had a similar pattern, as compared to those in the HCC group. Furthermore, no differences were observed between patients with and without liver cirrhosis. CONCLUSIONS: These results suggest that the HLA-G 14-bp insertion/deletion polymorphism may not be associated with HCC susceptibility and liver cirrhosis development in the Korean population.


Assuntos
Carcinoma Hepatocelular/genética , Carcinoma Hepatocelular/virologia , Antígenos HLA-G/genética , Hepatite B Crônica/genética , Cirrose Hepática/genética , Cirrose Hepática/virologia , Neoplasias Hepáticas/genética , Neoplasias Hepáticas/virologia , Polimorfismo de Nucleotídeo Único , Alelos , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Mutação INDEL , Masculino , Reação em Cadeia da Polimerase , República da Coreia
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