RESUMO
The aim of this study was to investigate the role played by the IL-6 rs1800795 (-174G/C) and rs1800796 (-572G>C) polymorphisms in the susceptibility to allergic rhinitis in a Chinese population. A total of 265 patients with allergic rhinitis and 265 controls from our hospital were enrolled in this study. The IL-6 rs1800795 and rs1800796 polymorphisms were genotyped by polymerase chain reaction coupled with restriction fragment length polymorphism. The results of the χ(2) statistical analysis revealed significant differences in the allele frequencies of IL-6 rs1800795 between patients with allergic rhinitis and controls (χ(2) = 4.52, P = 0.03). Multivariate logistic regression analyses revealed that individuals with the C allele of IL-6 rs1800795 were susceptible to increased risk of allergic rhinitis, compared to those expressing the G allele (adjusted OR = 1.31; 95%CI = 1.01-1.68). In conclusion, the results of our study indicated that the IL-6 rs1800795 polymorphism was associated with an increased risk of allergic rhinitis.
Assuntos
Predisposição Genética para Doença , Interleucina-6/genética , Polimorfismo de Nucleotídeo Único , Rinite Alérgica/genética , Adulto , Povo Asiático/genética , Feminino , Humanos , Interleucina-6/imunologia , Masculino , Rinite Alérgica/metabolismo , Adulto JovemRESUMO
Alzheimer's disease (AD) is a neurodegenerative disor-der and the most common cause of dementia in elderly people. Nu-merous studies have focused on the dysregulated genes in AD, but the pathogenesis is still unknown. In this study, we explored critical hippocampal genes and pathways that might potentially be involved in the pathogenesis of AD. Four transcriptome datasets for the hip-pocampus of patients with AD were downloaded from ArrayExpress, and the gene signature was identified by integrated analysis of mul-tiple transcriptomes using novel genome-wide relative significance and genome-wide global significance models. A protein-protein interaction network was constructed, and five clusters were selected. The biologi-cal functions and pathways were identified by Gene Ontology and Kyo-to Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis. A total of 6994 genes were screened, and the top 300 genes were subjected to further analysis. Four significant KEGG pathways were identified, including oxidative phosphorylation and Parkinson's disease, Huntington's disease, and Alzheimer's disease pathways. The hub network of cluster 1 with the highest average rank value was de-fined. The genes (NDUFB3, NDUFA9, NDUFV1, NDUFV2, NDUFS3, NDUFA10, COX7B, and UQCR1) were considered critical with high degree in cluster 1 as well as being shared by the four significant path-ways. The oxidative phosphorylation process was also involved in the other three pathways and is considered to be relevant to energy-related AD pathology in the hippocampus. This research provides a perspec-tive from which to explore critical genes and pathways for potential AD therapies.
Assuntos
Doença de Alzheimer/genética , Redes Reguladoras de Genes , Hipocampo/metabolismo , Proteínas do Tecido Nervoso/genética , Transcriptoma , Idoso , Doença de Alzheimer/metabolismo , Doença de Alzheimer/patologia , Estudos de Casos e Controles , Biologia Computacional , Feminino , Regulação da Expressão Gênica , Hipocampo/patologia , Humanos , Masculino , Anotação de Sequência Molecular , Proteínas do Tecido Nervoso/metabolismo , Fosforilação Oxidativa , Mapeamento de Interação de ProteínasRESUMO
Although 17β-estradiol (E2) deficiency has been linked to the development of osteoarthritis (OA) in middle-aged women, there are few studies relating other estrogens and estrogen metabolites (EMs) to this condition. We developed a high-performance liquid chromatography-electrospray ionization-tandem mass spectrometry (HPLC-ESI-MS/MS) method to measure the levels of six EMs (i.e., estrone, E2, estriol, 2-hydroxyestrone, 2-hydroxyestradiol, and 16a-hydroxyestrone) in healthy pre- and postmenopausal women and women with OA. This method had a precision ranging from 1.1 to 3.1% and a detection limit ranging from 10 to 15 pg. Compared to healthy women, serum-free E2 was lower in the luteal and postmenopausal phases in women with OA, and total serum E2 was lower in postmenopausal women with OA. Moreover, compared to healthy women, total serum 2-hydroxyestradiol was higher in postmenopausal women with OA and total serum 2-hydroxyestrone was lower in both the luteal and follicular phases in women with OA. In conclusion, our HPLC-ESI-MS/MS method allowed the measurement of multiple biochemical targets in a single assay, and, given its increased cost-effectiveness, simplicity, and speed relative to previous methods, this method is suitable for clinical studies.
Assuntos
Adulto , Idoso , Feminino , Humanos , Pessoa de Meia-Idade , Cromatografia Líquida de Alta Pressão/métodos , Estrogênios/sangue , Osteoartrite/sangue , Pós-Menopausa/sangue , Pré-Menopausa/sangue , Espectrometria de Massas por Ionização por Electrospray/métodos , Estradiol/análogos & derivados , Estradiol/sangue , Estriol/sangue , Estrogênios/metabolismo , Estrona/sangue , Fase Folicular/sangue , Hidroxiestronas/sangue , Limite de Detecção , Fase Luteal/sangue , Osteoartrite/metabolismo , Pós-Menopausa/metabolismo , Pré-Menopausa/metabolismo , Estatísticas não ParamétricasRESUMO
Although 17ß-estradiol (E2) deficiency has been linked to the development of osteoarthritis (OA) in middle-aged women, there are few studies relating other estrogens and estrogen metabolites (EMs) to this condition. We developed a high-performance liquid chromatography-electrospray ionization-tandem mass spectrometry (HPLC-ESI-MS/MS) method to measure the levels of six EMs (i.e., estrone, E2, estriol, 2-hydroxyestrone, 2-hydroxyestradiol, and 16a-hydroxyestrone) in healthy pre- and postmenopausal women and women with OA. This method had a precision ranging from 1.1 to 3.1% and a detection limit ranging from 10 to 15 pg. Compared to healthy women, serum-free E2 was lower in the luteal and postmenopausal phases in women with OA, and total serum E2 was lower in postmenopausal women with OA. Moreover, compared to healthy women, total serum 2-hydroxyestradiol was higher in postmenopausal women with OA and total serum 2-hydroxyestrone was lower in both the luteal and follicular phases in women with OA. In conclusion, our HPLC-ESI-MS/MS method allowed the measurement of multiple biochemical targets in a single assay, and, given its increased cost-effectiveness, simplicity, and speed relative to previous methods, this method is suitable for clinical studies.
Assuntos
Cromatografia Líquida de Alta Pressão/métodos , Estrogênios/sangue , Osteoartrite/sangue , Pós-Menopausa/sangue , Pré-Menopausa/sangue , Espectrometria de Massas por Ionização por Electrospray/métodos , Adulto , Idoso , Estradiol/análogos & derivados , Estradiol/sangue , Estriol/sangue , Estrogênios/metabolismo , Estrona/sangue , Feminino , Fase Folicular/sangue , Humanos , Hidroxiestronas/sangue , Limite de Detecção , Fase Luteal/sangue , Pessoa de Meia-Idade , Osteoartrite/metabolismo , Pós-Menopausa/metabolismo , Pré-Menopausa/metabolismo , Estatísticas não ParamétricasRESUMO
Genetic variations in the caspase genes CASP-3 and CASP-7 are known to be involved in apoptosis, cytokine maturation, cell growth and differentiation. Polymorphisms of CASP-3 and CASP-7 genes have been increasingly recognized as important regulators in the development of cancer. However, whether there is a specific association is still controversial. Therefore, we made a Human Genome Epidemiology review and meta-analysis to explore the association between polymorphisms of CASP-3 and CASP-7 genes and cancer risk. Based on the inclusion criteria, we examined 9 case-control studies, with a total of 3142 cancer cases and 3670 healthy controls. Meta-analysis results showed that the homozygote (CC) of rs2705897 in the CASP-3 gene is positively associated with cancer susceptibility [odds ratio (OR) = 4.36, 95% confidence interval (CI) = 1.26-15.11, P = 0.02], while the C allele and C carrier (TC+CC) of rs1049216 are negatively associated with cancer risk (OR = 0.81, 95%CI = 0.69-0.95, P = 0.01; OR = 0.78, 95%CI = 0.63-0.97, P = 0.02, respectively). The G allele and G carrier of rs4647603 (A/G) in CASP-3 had positive associations with cancer susceptibility (OR = 1.69, 95%CI = 1.37-2.09, P < 0.001; OR = 1.93, 95%CI = 1.26-2.93, P = 0.002, respectively). The T allele of rs12415607, the G allele and homozygote (GG) of rs2227310, and homozygote (CC) of rs3124740 also had positive associations with cancer risk (OR = 1.18, 95%CI = 1.02-1.37, P = 0.03; OR = 1.17, 95%CI = 1.01-1.34, P = 0.03; OR = 1.34, 95%CI = 1.04-1.74, P = 0.03; OR = 1.30, 95%CI = 1.04-1.63, P = 0.02, respectively). In addition, homozygote (AA) of rs11196418 showed a significant negative association with cancer risk (OR = 0.36, 95%CI = 0.14-0.93, P = 0.03). These meta-analysis results demonstrated that CASP-3 and CASP-7 genetic polymorphisms are involved in the pathogenesis of cancer.
Assuntos
Caspase 3/genética , Caspase 7/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Genoma Humano/genética , Neoplasias/genética , Polimorfismo de Nucleotídeo Único/genética , Humanos , Viés de Publicação , Fatores de RiscoRESUMO
Endometriosis is a chronic gynecological disease defined as the presence of the endometrium outside the uterine cavity. Endometriosis is a multifactorial and polygenic disease in which angiogenesis may be implicated. Angiogenesis is under the control of numerous inducers, including vascular endothelial growth factor (VEGF). Many studies have reported that VEGF plays a role in the progression of the disease, but individually published studies showed inconclusive results. We investigated the association between VEGF polymorphisms and the susceptibility to endometriosis. The MEDLINE, EMBASE, Web of Science, and CBM databases were searched for all articles published up to June 25, 2012, which addressed VEGF polymorphisms and endometriosis risk. We investigated the potential association between VEGF polymorphisms and the risk of endometriosis. Fourteen studies were included with a total of 3313 endometriosis cases and 3393 healthy controls. Meta-analysis results showed that the rs699947 (A>C) and rs1570360 (G>A) polymorphisms in the VEGF gene were associated with a decreased risk of endometriosis, while rs3025039 (C>T) might increase the risk of endometriosis. However, the rs833061 (T>C) and rs2010963 (G>C) polymorphisms of the VEGF gene did not appear to have an influence on endometriosis susceptibility. Results from the meta-analysis suggest that the rs3025039 (C>T) polymorphism of the VEGF gene increases the risk of endometriosis, but the rs699947 (A>C) and rs1570360 (G>A) polymorphisms might be protective factors for endometriosis.
Assuntos
Endometriose/genética , Polimorfismo Genético , Fator A de Crescimento do Endotélio Vascular/genética , Alelos , Estudos de Casos e Controles , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Polimorfismo de Nucleotídeo Único , Viés de PublicaçãoRESUMO
We investigated a possible association between CASP-10 gene polymorphisms and susceptibility to cancer through a meta-analysis. Eight studies with a total of 29,936 cancer cases and 34,041 healthy controls were included. Meta-analysis results showed that the rs13006529 T carrier was significantly associated with increased cancer risk (OR = 1.17, 95%CI = 1.01-1.36, P = 0.03). However, rs3900115 and rs13010627 showed no association with cancer susceptibility (all P > 0.05). In the subgroup analysis by cancer type, we found that the rs13006529 T carrier was a risk factor for breast cancer (OR = 1.17, 95%CI = 1.01-1.36, P = 0.03). Similarly, no association was found between CASP-10 polymorphisms and susceptibility to lymphoma, myeloma, melanoma, or lung cancer (all P > 0.05). This meta-analysis suggests that the rs13006529 T carrier in the CASP-10 gene might be a risk factor for cancer susceptibility, especially for breast cancer.
Assuntos
Caspase 10/genética , Genoma Humano/genética , Neoplasias/epidemiologia , Neoplasias/genética , Polimorfismo de Nucleotídeo Único/genética , Estudos de Casos e Controles , Predisposição Genética para Doença , Humanos , Modelos Lineares , Razão de Chances , Viés de PublicaçãoRESUMO
Fruit lycopene content and total soluble solid content are important factors determining fruit quality of tomatoes; however, the dynamic quantitative trait loci (QTL) controlling lycopene and soluble solid content have not been well studied. We mapped the chromosomal regions controlling these traits in different periods in F(2:3) families derived from a cross between the domestic and wild tomato species Solanum lycopersicum and S. pimpinellifolium. Fifteen QTLs for lycopene and soluble solid content and other related traits analyzed at three different fruit ripening stages were detected with a composite interval mapping method. These QTLs explained 7-33% of the individual phenotypic variation. QTLs detected in the color-changing period were different from those detected in the other two periods. On chromosome 1, the soluble solid content QTL was located in the same region during the color-changing and full-ripe periods. On chromosome 4, the same QTL for lycopene content was found during the color-changing and full-ripe periods. The QTL for lycopene content on chromosome 4 co-located with the QTL for soluble solid content during the full-ripe period. Co-location of lycopene content QTL and soluble solid content QTLs may be due to pleiotropic effects of a single gene or a cluster of genes via physiological relationships among traits. On chromosome 9, the same two QTLs for lycopene content at two different fruit ripening periods may reflect genes controlling lycopene content that are always expressed in tomato fruit development.