共查询到20条相似文献,搜索用时 609 毫秒
1.
Ceri E Stewart Ian P Hall Stuart G Parker Miriam F Moffat Andrew J Wardlaw Martin J Connolly Charlotte Ruse Ian Sayers 《BMC medical genetics》2009,10(1):112
Background
We have previously identified Urokinase Plasminogen Activator Receptor (PLAUR) as an asthma susceptibility gene. In the current study we tested the hypothesis that PLAUR single nucleotide polymorphisms (SNPs) determine baseline lung function and contribute to the development of Chronic Obstructive Pulmonary Disease (COPD) in smokers. 相似文献2.
Chuan-I Li Shu-Jiau Chiou Teng-Soung Tong Cheng-Yu Lee Lain-Tze Lee Ching-Ming Cheng 《Chinese medicine》2010,5(1):40
Background
The root of Boehmeria spp (ramie) is a hepatoprotective Chinese herbal medicine. Medicinal properties vary between Boehmeria nivea var. nivea and Boehmeria nivea var. tenacissima, which are local species found in Taiwan. As commercial preparations may use either species, there is a need for a rapid and simple assay to identify variants for quality control. 相似文献3.
Matthew T Bishop Catherine Pennington Craig A Heath Robert G Will Richard SG Knight 《BMC medical genetics》2009,10(1):146
Background
Genetic analysis of the human prion protein gene (PRNP) in suspect cases of Creutzfeldt-Jakob disease (CJD) is necessary for accurate diagnosis and case classification. Previous publications on the genetic variation at the PRNP locus have highlighted the presence of numerous polymorphisms, in addition to the well recognised one at codon 129, with significant variability between geographically distinct populations. It is therefore of interest to consider their influence on susceptibility or the clinico-pathological disease phenotype. This study aimed to characterise the frequency and effect of PRNP open reading frame polymorphisms other than codon 129 in both disease and control samples sourced from the United Kingdom population. 相似文献4.
Background
Peutz-Jeghers syndrome (PJS) is an autosomal dominant hereditary disease characterized by mucocutaneous pigmentation and gastrointestinal hamartomatous polyposis. The germline mutations in the serine/threonine kinase 11 (STK11) gene have been shown to be associated with the disease. Individuals with PJS are at increased risk for development of various neoplasms. The aim of the present study was to characterize the genotype and phenotype of Czech patients with PJS. 相似文献5.
Haneen Sadick Johanna Hage Ulrich Goessler Jens Stern-Straeter Frank Riedel Karl Hoermann Peter Bugert 《BMC medical genetics》2009,10(1):53
Background
Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is an autosomal dominant disorder which is clinically characterised by recurrent epistaxis, mucocutaneous telangiectasia and visceral arteriovenous malformations. Genetic linkage studies identified two genes primarily related to HHT: endoglin (ENG) on chromosome 9q33-34 and activin receptor-like kinase1 (ACVRL1) on chromosome 12q13. We have screened a total of 41 unselected German patients with the suspected diagnosis of HHT. Mutation analysis for the ENG and ACVRL1 genes in all patients was performed by PCR amplification. Sequences were then compared to the HHT database sequences of the ENG mRNA (accession no. BC014271.2) and the ACVRL1 mRNA (accession no. NM000020.1). 相似文献6.
Paulo D Picon Rafael V Picon Andry F Costa Guilherme B Sander Karine M Amaral Ana L Aboy Amélia T Henriques 《BMC complementary and alternative medicine》2010,10(1):17
Background
A phytotherapic compound containing Pimpinella anisum L., Foeniculum vulgare Miller, Sambucus nigra L., and Cassia augustifolia is largely used in Brazil for the treatment of constipation. However, the laxative efficacy of the compound has never been tested in a randomized clinical trial. The aim of this study was to evaluate the efficacy and safety of the product. 相似文献7.
Ranjan Deka Ling Xu Prodipto Pal Palanitina T Toelupe Tuiasina S Laumoli Huifeng Xi Ge Zhang Daniel E Weeks Stephen T McGarvey 《BMC medical genetics》2009,10(1):143
Background
A genome wide association study found significant association of a sequence variant, rs7566605, in the insulin-induced gene 2 (INSIG2) with obesity. However, the association remained inconclusive in follow-up studies. We tested for association of four tagging SNPs (tagSNPs) including this variant with body mass index (BMI) and abdominal circumference (ABDCIR) in the Samoans of the Western Pacific, a population with high levels of obesity. 相似文献8.
Byung-Hoon Jeong Kyung-Hee Lee Yun-Jung Lee Yun Joong Kim Eun-Kyoung Choi Young-Hoon Kim Young-Sook Cho Richard I Carp Yong-Sun Kim 《BMC medical genetics》2009,10(1):32
Background
Polymorphisms of the prion protein gene (PRNP) at codons 129 and 219 play an important role in the susceptibility to Creutzfeldt-Jakob disease (CJD), and might be associated with other neurodegenerative disorders. Several recent reports indicate that polymorphisms outside the coding region of PRNP modulate the expression of prion protein and are associated with sporadic CJD, although other studies failed to show an association. These reports involved the polymorphism PRNP 1368 which is located upstream from PRNP exon 1. In a case-controlled protocol, we assessed the possible association between the PRNP 1368 polymorphism and either Alzheimer's disease (AD) or vascular dementia (VaD). 相似文献9.
Bibhabasu Hazra Rhitajit Sarkar Santanu Biswas Nripendranath Mandal 《BMC complementary and alternative medicine》2010,10(1):20
Background
Cellular damage caused by reactive oxygen species (ROS) has been implicated in several diseases, and hence natural antioxidants have significant importance in human health. The present study was carried out to evaluate the in vitro antioxidant and reactive oxygen species scavenging activities of Terminalia chebula, Terminalia belerica and Emblica officinalis fruit extracts. 相似文献10.
James M Wilkins Lorraine Southam Zehra Mustafa Kay Chapman John Loughlin 《BMC medical genetics》2009,10(1):141
Background
In a previous study carried out by our group, the genotyping of 36 microsatellite markers from within a narrow interval of chromosome 6p12.3-q13 generated evidence for linkage and for association to female hip osteoarthritis (OA), with the most compelling association found for a marker within intron 1 of the bone morphogenetic protein 5 gene (BMP5). In this study, we aimed to further categorize the association of variants within intron 1 of BMP5 with OA through an expanded genetic association study of the intron and subsequent functional analysis of associated polymorphisms. 相似文献11.
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12.
Suddhasil Mookherjee Deblina Banerjee Subhadip Chakraborty Antara Banerjee Indranil Mukhopadhyay Abhijit Sen Kunal Ray 《BMC medical genetics》2010,11(1):99
Background
Recent studies suggest that glaucoma is a neurodegenerative disease in which secondary degenerative losses occur after primary insult by raised Intraocular pressure (IOP) or by other associated factors. It has been reported that polymorphisms in the IL1A and IL1B genes are associated with Primary Open Angle Glaucoma (POAG). The purpose of our study was to investigate the role of these polymorphisms in eastern Indian POAG patients. 相似文献13.
S Brijesh Poonam Daswani Pundarikakshudu Tetali Noshir Antia Tannaz Birdi 《BMC complementary and alternative medicine》2009,9(1):47
Background
Aegle marmelos (L.) Correa has been widely used in indigenous systems of Indian medicine due to its various medicinal properties. However, despite its traditional usage as an anti-diarrhoeal there is limited information regarding its mode of action in infectious forms of diarrhoea. Hence, we evaluated the hot aqueous extract (decoction) of dried unripe fruit pulp of A. marmelos for its antimicrobial activity and effect on various aspects of pathogenicity of infectious diarrhoea. 相似文献14.
Tony Schountz Renata Green Bennett Davenport Amie Buniger Tiffany Richens J Jeffrey Root Forbes Davidson Charles H Calisher Barry J Beaty 《BMC immunology》2004,5(1):1
Background
Sin Nombre virus (SNV) establishes a persistent infection in the deer mouse, Peromyscus maniculatus. A strong antibody response occurs in response to SNV infection, but the role of the innate immune response is unclear. To address this issue, we have initiated an effort to identify and characterize deer mouse cytokine and chemokine genes. Such cytokines and chemokines are involved in various aspects of immunity, including the transition from innate to adaptive responses, type I and type II responses, recruitment of leukocytes to sites of infection, and production of mature cells from bone marrow progenitors. 相似文献15.
Background
Recent studies have proposed that the serine protease inhibitor E2 (SERPINE2) was a novel susceptibility gene for chronic obstructive pulmonary disease (COPD) in Caucasians. However, this issue still remained controversial. Additional evidences from populations with different environments and/or genetic backgrounds, such as East Asian, would be helpful to elucidate the issue. 相似文献16.
Audrey Y Chu Rulan S Parekh Brad C Astor Josef Coresh Yvette Berthier-Schaad Michael W Smith Alan R Shuldiner Wen Hong L Kao 《BMC medical genetics》2009,10(1):108
Background
Apolipoprotein E polymorphisms (APOE) have been associated with lowered glomerular filtration rate (GFR) and chronic kidney disease (CKD) with e2 allele conferring risk and e4 providing protection. However, few data are available in non-European ethnic groups or in a population-based cohort. 相似文献17.
Background
Survivin, one of the strongest apoptosis inhibitors, plays a critical role in the development and progression of hepatocellular carcinoma (HCC). By comparison, relatively little is known about the effect of survivin gene polymorphisms on HCC susceptibility. Our study aimed to investigate the association of survivin gene polymorphisms with the risk of HCC in Chinese han population. 相似文献18.
Furen Zhang Hong Liu Shumin Chen Changyuan Wang Chuanfu Zhu Lin Zhang Tongsheng Chu Dianchang Liu Xiaoxiao Yan Jianjun Liu 《BMC medical genetics》2009,10(1):133
Background
Human leukocyte antigens (HLAs) have been proposed to modulate the immune response to Mycobacterium leprae. The association of HLA-DRB1 with leprosy has been reported in several populations, but not in a Chinese population. 相似文献19.
Background
Genetic influences on drug efficacy and tolerability are now widely known. Pharmacogenetics has thus become an expanding field with great potential for improving drug efficacy and reducing toxicity. Many pharmacologically-relevant polymorphisms do show variability among different populations. Knowledge of allelic frequency distribution within specified populations can be useful in explaining therapeutic failures, identifying potential risk groups for adverse drug reactions (ADRs) and optimising doses for therapeutic efficacy. We sought to determine the prevalence of clinically relevant Cytochrome P450 (CYP) 2C8, CYP2C9, and CYP2C19 variants in Ghanaians. We compared the data with other ethnic groups and further investigated intra country differences within the Ghanaian population to determine its value to pharmacogenetics studies. 相似文献20.
Salvador Mena María L Rodriguez Angel Ortega Sonia Priego Elena Obrador Miguel Asensi Ignacio Petschen Miguel Cerdá Bob D Brown José M Estrela 《Journal of translational medicine》2012,10(1):8