共查询到20条相似文献,搜索用时 78 毫秒
1.
Suet Nee Chen Mehmet Cilingiroglu Josh Todd Raffaella Lombardi James T Willerson Antonio M Gotto Jr Christie M Ballantyne AJ Marian 《BMC medical genetics》2009,10(1):111-8
Background
Plasma level of high-density lipoprotein-cholesterol (HDL-C), a heritable trait, is an important determinant of susceptibility to atherosclerosis. Non-synonymous and regulatory single nucleotide polymorphisms (SNPs) in genes implicated in HDL-C synthesis and metabolism are likely to influence plasma HDL-C, apolipoprotein A-I (apo A-I) levels and severity of coronary atherosclerosis. 相似文献2.
3.
Minkyu Jung Byoung Chul Cho Chul Ho Lee Hyung Soon Park Young Ae Kang Se Kyu Kim Joon Chang Dae Jun Kim Sun Young Rha Joo Hang Kim Ji Hyun Lee 《Yonsei medical journal》2012,53(6):1128-1135
Purpose
Mutations in the epidermal growth factor receptor (EGFR) have been confirmed as predictors of the efficacy of treatment with EGFR-tyrosine kinase inhibitors (TKIs). We investigated whether polymorphisms of the EGFR gene were associated with clinical outcomes in non-small cell lung cancer (NSCLC) patients treated with EGFR-TKI.Materials and Methods
A polymorphic dinucleotide repeat in intron 1 [CA simple sequence repeat in intron 1(CA-SSR1)] in intron 1 and single nucleotide polymorphisms (SNP-216) in the promoter region of the EGFR gene were evaluated in 71 NSCLC patients by restriction fragment length polymorphism and DNA sequencing. The relationship between genetic polymorphisms and clinical outcomes of treatment with EGFR-TKIs was evaluated.Results
SNP-216G/T polymorphisms were associated with the efficacy of EGFR-TKI. The response rate for the SNP-216G/T tended to be higher than that for G/G (62.5% vs. 27.4%, p=0.057). The SNP-216G/T genotype was also associated with longer progression-free survival compared with the GG genotype (16.7 months vs. 5.1 months, p=0.005). However, the length of CA-SSR1 was not associated with the efficacy of EGFR-TKI.Conclusion
SNP-216G/T polymorphism was a potential predictor of clinical outcomes in NSCLC patients treated with EGFR-TKI. 相似文献4.
Omer Ates Semiha Kurt Nihan Bozkurt Hatice Karaer 《Journal of clinical immunology》2010,30(4):583-586
Objectives
Multiple sclerosis (MS) is an inflammatory, autoimmune demyelinating disease of the central nervous system. Human Natural Resistance Associated Macrophage Protein 1 (NRAMP1) gene polymorphisms have been implicated in the immune mediated diseases susceptibility. This study aimed to investigate the plausible association between NRAMP1 gene and MS susceptibility. 相似文献5.
Background
The COMT gene is located on chromosome 22q11, a region strongly implicated in the aetiology of several psychiatric disorders, in particular schizophrenia. Previous research has suggested that activity and expression of COMT is altered in schizophrenia, and is mediated by one or more polymorphisms within the gene, including the functional Val158Met polymorphism. 相似文献6.
Objective and design
The pro-oxidative and pro-inflammatory pathways in vascular endothelium have been implicated in the development of atherosclerosis. In the present study, we investigated effect of interleukin-4 (IL-4) on monocyte chemoattractant protein-1 (MCP-1) expression in vascular endothelium and examined the role of distinct sources of reactive oxygen species (ROS) in this process. 相似文献7.
Hector Gonzalez-Pacheco Gilberto Vargas-Alarcon Javier Angeles-Martinez Carlos Martinez-Sanchez Oscar Perez-Mendez Gabriel Herrera-Maya Marco Antonio Martinez-Rios Marco Antonio Peña-Duque Carlos Posadas-Romero Jose Manuel Fragoso 《Immunologic research》2017,65(4):862-868
The protein products of NLRP3 and CASP1 genes are involved in the cleavage of pro-IL-1B and pro-IL-18 leading to the active cytokines, which play an important role in the development of the acute coronary syndrome (ACS). The aim of the present study was to evaluate whether NLRP3 and CASP1 gene polymorphisms are biomarkers of ACS susceptibility in Mexican population. Two polymorphisms of the CASP1 gene [G+7/in6A (rs501192) and A10370-G Exon-6 (rs580253)] and one of the NLRP3 gene [UTR′3 G37562-C (rs10754558)] were genotyped by 5′ exonuclease TaqMan assays in a group of 617 patients with ACS and 609 control individuals. Under recessive model, the CASP1 G+7/in6A polymorphism was associated with an increased risk of developing ACS when compared to healthy controls (OR = 1.76, 95% CI 1.08–2.86, P Res = 0.022). In the same way, under recessive model, the CASP1 A10370-G was associated with increased risk of ACS (OR = 1.75, 95% CI 1.07–2.85, P Res = 0.025). Moreover, under co-dominant, dominant, over-dominant, and additive models, the NLRP3 UTR′3 G37562-C was associated with a decreased risk of ACS (OR = 0.45, 95%CI 0.22–0.92, P Co-dom = 0.006; OR = 0.61, 95%CI 0.44–0.84, P Dom = 0.002; OR = 0.67, 95%CI 0.48–0.94, P Over-dom = 0.02; and OR = 0.65, 95%CI 0.50–0.94, P Add = 0.02, respectively). In summary, this study demonstrates that the G+7/in6A and A10370-G polymorphisms of the CASP1 gene are associated with increased risk of developing ACS, whereas the UTR′3 G37562-C polymorphism of the NLRP3 gene is associated with a decreased risk of developing ACS in Mexican population. 相似文献
8.
Tanel Traks Kati Koido Triin Eller Eduard Maron Külli Kingo Veiko Vasar Eero Vasar Sulev Kõks 《BMC medical genetics》2008,9(1):111
Background
Innate immune inflammatory response is suggested to have a role in the pathogenesis of major depressive disorder (MDD). Interleukin (IL)-10 family cytokines IL-10, IL-19, IL-20, and IL-24 are all implicated in the inflammatory processes and polymorphisms in respective genes have been associated with various immunopathological conditions. This study was carried out to investigate whether single-nucleotide polymorphisms (SNPs) in these genes are also associated with MDD. 相似文献9.
10.
Stéphane Cauchi Inger Byrjalsen Emmanuelle Durand Morten A Karsdal Philippe Froguel 《BMC medical genetics》2009,10(1):145
Background
Bone size (BS) variation is under strong genetic control and plays an important role in determining bone strength and fracture risk. Recently, a genome-wide association study identified polymorphisms associated with hip BS variation in the PLCL1 (phospholipase c-like 1) locus. Carriers of the major A allele of the most significant polymorphism, rs7595412, have around 17% larger hip BS than non-carriers. We therefore hypothesized that this polymorphism may also influence postmenopausal complications. 相似文献11.
Yao-Li Chen Hsin-Shun Tseng Wu-Hsien Kuo Shun-Fa Yang Dar-Ren Chen Hsiu-Ting Tsai 《BMC medical genetics》2010,11(1):46
Background
Hepatocellular carcinoma (HCC) is one of the most frequent malignant neoplasms in the world. Genetic polymorphism has been reported to be a factor increasing the risk of HCC. Phase II enzymes such as glutathione s-transferases (GSTP1, GSTA1) play important roles in protecting cells against damage induced by carcinogens. The aim of this study was to estimate the relationship of the GSTP1 and GSTA1 gene polymorphisms to HCC risk and clinico-pathological status. 相似文献12.
Sofia Mayans Kurt Lackovic Caroline Nyholm Petter Lindgren Karin Ruikka Mats Eliasson Corrado M Cilio Dan Holmberg 《BMC medical genetics》2007,8(1):3
Background
Polymorphisms in and around the CTLA-4 gene have previously been associated to T1D and AITD in several populations. One such single nucleotide polymorphism (SNP), CT60, has been reported to affect the expression level ratio of the soluble (sCTLA-4) to full length CTLA-4 (flCTLA-4) isoforms. The aims of our study were to replicate the association previously published by Ueda et al. of polymorphisms in the CTLA-4 region to T1D and AITD and to determine whether the CT60 polymorphism affects the expression level ratio of sCTLA-4/flCTLA-4 in our population. 相似文献13.
Maria Nilsson Ingrid Dahlman Hong Jiao Jan-Åke Gustafsson Peter Arner Karin Dahlman-Wright 《BMC medical genetics》2007,8(1):73
Background
The estrogen receptors α and β (ESR1, ESR2) have been implicated in adiposity, lipid metabolism and feeding behaviour. In this report we analyse ESR1 and ESR2 gene single nucleotide polymorphisms (SNPs) for association with obesity. We also relate adipose tissue ESR1 mRNA levels and ESR1 SNPs to adipocyte lipolysis and lipogenesis phenotypes. 相似文献14.
D. H. Verity R. W. Vaughan E. Kondeatis W. Madanat H. Zureikat F. Fayyad J. E. Marr C. A. Kanawati G. R. Wallace M. R. Stanford 《International journal of immunogenetics》2000,27(2):73-76
Intercellular adhesion molecule‐1 (ICAM‐1) gene polymorphisms have been implicated in the susceptibility to inflammatory diseases, including multiple sclerosis and inflammatory bowel disease. The expression of both soluble and tissue ICAM‐1 is increased in Behçet’s disease (BD) but the contribution of ICAM‐1 gene polymorphisms to this disease remains unknown. Associations with BD have been reported for genes within the MHC, including HLA‐B51, TNF and MICA, but the role of non‐MHC genes in BD remains largely unexplored. We have investigated the frequency of the R/G 241 and K/E 469 ICAM‐1 gene polymorphisms in 83 patients with BD disease and 103 healthy controls, all of Palestinian and Jordanian descent, and demonstrated an association between BD and the ICAM‐1 E469 allele (Pc = 0.046, OR = 2.1). Among patients, no association was found between the presence of ocular disease and ICAM‐1 polymorphisms. While the functional correlate of this polymorphism remains unclear, this finding indicates that a genetic polymorphism in the ICAM‐1 gene domain, which is independent of the MHC, may contribute to disease. 相似文献
15.
Suhreta Mujakovic José JM ter Linde Niek J de Wit Corine J van Marrewijk Gerdine AJ Fransen N Charlotte Onland-Moret Robert JF Laheij Jean WM Muris Diederick E Grobbee Melvin Samsom Jan BMJ Jansen André Knottnerus Mattijs E Numans 《BMC medical genetics》2011,12(1):140
Background
The association between anxiety and depression related traits and dyspepsia may reflect a common genetic predisposition. Furthermore, genetic factors may contribute to the risk of having increased visceral sensitivity, which has been implicated in dyspeptic symptom generation. Serotonin (5-HT) modulates visceral sensitivity by its action on 5-HT3 receptors. Interestingly, a functional polymorphism in HTR3A, encoding the 5-HT3 receptor A subunit, has been reported to be associated with depression and anxiety related traits. A functional polymorphism in the serotonin transporter (5-HTT), which terminates serotonergic signalling, was also found associated with these psychiatric comorbidities and increased visceral sensitivity in irritable bowel syndrome, which coexistence is associated with higher dyspeptic symptom severity. We investigated the association between these functional polymorphisms and dyspeptic symptom severity.Methods
Data from 592 unrelated, Caucasian, primary care patients with dyspepsia participating in a randomised clinical trial comparing step-up and step-down antacid drug treatment (The DIAMOND trial) were analysed. Patients were genotyped for HTR3A c.-42C > T SNP and the 44 bp insertion/deletion polymorphism in the 5-HTT promoter (5-HTTLPR). Intensity of 8 dyspeptic symptoms at baseline was assessed using a validated questionnaire (0 = none; 6 = very severe). Sum score ≥20 was defined severe dyspepsia.Results
HTR3A c.-42T allele carriers were more prevalent in patients with severe dyspepsia (OR 1.50, 95% CI 1.06-2.20). This association appeared to be stronger in females (OR 2.05, 95% CI 1.25-3.39) and patients homozygous for the long (L) variant of the 5-HTTLPR genotype (OR 2.00, 95% CI 1.01-3.94). Females with 5-HTTLPR LL genotype showed the strongest association (OR = 3.50, 95% CI = 1.37-8.90).Conclusions
The HTR3A c.-42T allele is associated with severe dyspeptic symptoms. The stronger association among patients carrying the 5-HTTLPR L allele suggests an additive effect of the two polymorphisms. These results support the hypothesis that diminished 5-HT3 mediated antinociception predisposes to increased visceral sensitivity of the gastrointestinal tract. Moreover, the HTR3A c.-42C > T and 5-HTTLPR polymorphisms likely represent predisposing genetic variants in common to psychiatric morbidity and dyspepsia.16.
Background
Dysregulated levels of interleukin-1 (IL-1) were observed in patients with multiple sclerosis (MS). Previous studies have provided conflicting evidence implicating the IL-1 gene polymorphisms in MS risk.Methods
A meta-analysis of 16 case–control studies involving 3,482 cases and 3,528 controls was conducted to evaluate this association.Results
No association was found between the IL-1α ?889 (rs1800587), IL-1α +4,845 (rs17561), IL-1β ?511 (rs16944), IL-1β +3,953 (rs1143634), IL-1ra variable number tandem repeat (VNTR) polymorphisms and MS risk. However, in subgroup analyses for the IL-1ra VNTR polymorphism, we found that individuals carrying the 2 allele had a 32 % increased risk for bout-onset MS (relapsing remitting and secondary progressive MS) when compared to the LL homozygotes (OR = 1.32, 95 % CI = 1.06–1.66, P z = 0.014).Conclusion
Common variants in the IL-1 region are not associated with MS risk but our data suggest that the IL-1ra VNTR polymorphism might be associated with bout-onset MS subtype. 相似文献17.
Concepción Núñez Diana Alecsandru Jezabel Varadé Isabel Polanco Carlos Maluenda Miguel Fernández-Arquero Emilio G de la Concha Elena Urcelay Alfonso Martínez 《BMC medical genetics》2006,7(1):32-5
Background
Celiac disease (CD) is a chronic disorder characterized by a pathological inflammatory response after exposure to gluten in genetically susceptible individuals. The HLA complex accounts for less than half of the genetic component of the disease, and additional genes must be implicated. Interleukin-10 (IL-10) is an important regulator of mucosal immunity, and several reports have described alterations of IL-10 levels in celiac patients. The IL-10 gene is located on chromosome 1, and its promoter carries several single nucleotide polymorphisms (SNPs) and microsatellites which have been associated to production levels. Our aim was to study the role of those polymorphisms in susceptibility to CD in our population. 相似文献18.
Dimitry A Chistyakov Kirill V Savost'anov Elena V Zotova Valery V Nosikov 《BMC medical genetics》2001,2(1):4-7
Background
Oxidative stress, resulting in a marked increase in the level of oxygen free radicals (OFR), has been implicated in the etiology of diabetic neuropathy (DN). Antioxidant enzymes may protect against the rapid onset and progression of DN, by reducing the excess of OFR and peroxide. Mutations and polymorphisms in the genes encoding such enzymes may therefore result in predisposition to DN. We investigated the role of genes encoding two antioxidant enzymes, mitochondrial (Mn-SOD) and extracellular (EC-SOD) superoxide dismutase, in DN pathogenesis in a Russian population. We studied Ala(-9)Val and Ile58Thr polymorphisms of the Mn-SOD gene and Arg213Gly dimorphism of the EC-SOD gene in type 1 diabetic patients with (n = 82) and without DN (n = 84). 相似文献19.
Background
Single-nucleotide polymorphisms (SNPs) are considered to be useful polymorphic markers for genetic studies of polygenic traits. Single-stranded conformational polymorphism (SSCP) analysis has been widely applied to detect SNPs, including point mutations in cancer and congenital diseases. In this study, we describe an application of the fluorescent labeling of PCR fragments using a fluorescent-adapted primer for SSCP analysis as a novel method. 相似文献20.
Hyemoon Chung Hyuck Moon Kwon Jong-Youn Kim Young Won Yoon Jihyuk Rhee Eui-Young Choi Pil-Ki Min Bum-Kee Hong Se-Joong Rim Ji Hyun Yoon Sung-Joo Lee Jong-Kwan Park Myung-Hyun Kim Minhee Jo Jeong-Hee Yang Byoung Kwon Lee 《Yonsei medical journal》2014,55(6):1507-1515