共查询到20条相似文献,搜索用时 203 毫秒
1.
Xue Mei Jin Hee Nam Kim Il-Kwon Lee Kyeong-Soo Park Hyeoung-Joon Kim Jin-Su Choi Sang Woo Juhng Chan Choi 《BMC medical genetics》2010,11(1):38
Background
Poly(ADP-ribose) polymerase-1 (PARP-1) is a nuclear enzyme that plays a role in DNA repair, differentiation, proliferation, and cell death. The polymorphisms of PARP-1 have been associated with the risk of various carcinomas, including breast, lung, and prostate. We investigated whether PARP-1 polymorphisms are associated with the risk of non-Hodgkin lymphoma (NHL). 相似文献2.
Background
Case-control studies typically exclude fatal endpoints from the case set, which we hypothesize will substantially underestimate risk if survival is genotype-dependent. The loss of fatal cases is particularly nontrivial for studies of coronary heart disease (CHD) because of significantly reduced survival (34% one-year fatality following a coronary attack). A case in point is the KIF6 Trp719Arg polymorphism (rs20455). Whereas six prospective studies have shown that carriers of the KIF6 Trp719Arg risk allele have 20% to 50% greater CHD risk than non-carriers, several cross-sectional case-control studies failed to show that carrier status is related to CHD. Computer simulations were therefore employed to assess the impact of the loss of fatal events on gene associations in cross-sectional case-control studies, using KIF6 Trp719Arg as an example. 相似文献3.
Andreas Holstein Michael Hahn Antje Körner Michael Stumvoll Peter Kovacs 《BMC medical genetics》2011,12(1):30
Background
Variants in the TCF7L2 have been shown to be associated with an increased risk for type 2 diabetes (T2D). Since the association with diabetes could be explained by effects on insulin secretion, we investigated whether patients with diabetes risk alleles at rs7903146 might have an altered hypoglycaemic response to sulfonylureas (SUs). 相似文献4.
Bardia A Tiwari SK Gunisetty S Anjum F Nallari P Habeeb MA Khan AA 《Inflammation research》2012,61(4):359-365
Objective
The present study was designed to investigate the role of X-ray cross-complementing group 1 (XRCC1) and apurinic/apyrimidinic endonuclease 1 (APE1) polymorphisms in apoptosis and the risk of ulcerative colitis (UC). 相似文献5.
Ciara?Dolan Denis?C?Shields Alice?Stanton Eoin?O'Brien Deborah?M?Lambert John?K?O'Brien Eileen?P?Treacy
Background
The recessive disorder trimethylaminuria is caused by defects in the FMO3 gene, and may be associated with hypertension. We investigated whether common polymorphisms of the FMO3 gene confer an increased risk for elevated blood pressure and/or essential hypertension. 相似文献6.
7.
Objective
The aim of this study was to determine whether five polymorphisms of endoplasmic reticulum aminopeptidase 1 (ERAP1) confer susceptibility to ankylosing spondylitis (AS). 相似文献8.
Hege K Vefring Line Wee Astanand Jugessur Håkon K Gjessing Stein T Nilsen Rolv T Lie 《BMC medical genetics》2010,11(1):90
Background
Preeclampsia is a debilitating disorder affecting approximately 3% of pregnant women in the Western world. Although inconclusive, current evidence suggests that the renin-angiotensin system may be involved in hypertension. Therefore, our objective was to determine whether the genes for placental renin (REN) and maternal angiotensinogen (AGT) interact to influence the risk of preeclampsia. 相似文献9.
Ya-Fei Xu Wan-Li Liu Ju-Qin Dong Wen-Sheng Liu Qi-Sheng Feng Li-Zhen Chen Yi-Xin Zeng Mu-Sheng Zeng Wei-Hua Jia 《BMC medical genetics》2010,11(1):161
Background
The dendritic cell-specific intercellular adhesion molecule 3 grabbing non-integrin (DC-SIGN) is an important pathogen recognition receptor of the innate immune system. DC-SIGN promoter variants play important role in the susceptibility to various infectious diseases. Nasopharyngeal carcinoma (NPC) is a malignancy that is common in southern China and whether DC-SIGN promoter variants have effects on susceptibility to NPC is still unknown. The aim of this study is to ascertain the potential involvement of DC-SIGN promoter single nucleotide polymorphisms (SNPs) in NPC susceptibility. 相似文献10.
Objective and design
To determine whether exposure to E. coli lipopolysaccharide (LPS) modulates adenosine A1 receptor-induced increase in plasma exudation from the intact hamster cheek pouch microcirculation. 相似文献11.
Nigel?PS?Crawford Maurice?R?Eichenberger Daniel?W?Colliver Robert?K?Lewis Gary?A?Cobbs Robert?E?Petras Susan?Galandiuk
Background
Significant evidence suggests that a promoter polymorphism withinthe gene SLC11A1 is involved in susceptibility to both autoimmune and infectious disorders. The aim of this study was to evaluate whether SLC11A1 has a role in the susceptibility to inflammatory bowel disease (IBD) by characterizing a promoter polymorphism within the gene and two short tandem repeat (STR) markers in genetic proximity to SLC11A1. 相似文献12.
Linghua Zheng Dongling Li Fusheng Wang Hao Wu Xiaozhu Li Junliang Fu Xinyue Chen Lizhong Wang Yang Liu Shengdian Wang 《Journal of clinical immunology》2010,30(6):855-860
Background
PD-1, encoded by PDCD1, is highly expressed on virus-specific T cells and plays critical roles in modulating anti-virus immune responses in chronic viral infection. It is unknown, however, whether polymorphisms of the PDCD1 are associated with viral clearance during chronic viral infections. 相似文献13.
Huiping Zhu James O Ebot Enaw Chen Ma Gary M Shaw Edward J Lammer Richard H Finnell 《BMC medical genetics》2007,8(1):12
Background
CFL1 encodes human non-muscle cofilin (n-cofilin), which is an actin-depolymerizing factor and is essential in cytokinesis, endocytosis, and in the development of all embryonic tissues. Cfl1 knockout mice exhibit failure of neural tube closure at E10.5 and die in utero. We hypothesized that genetic variation within the human CFL1 gene may alter the protein's function and result in defective actin depolymerizing and cellular activity during neural tube closure. Such alterations may be associated with an increased risk for neural tube defects (NTDs). 相似文献14.
Maria Giuseppina Miano Carmela Laperuta Pietro Chiurazzi Michele D'Urso Matilde Valeria Ursini 《BMC medical genetics》2007,8(1):18
Background
The association between premature ovarian failure (POF) and the FMR1 repeat number (41> CGGn< 200) has been widely investigated. Current findings suggest that the risk estimation for POF can be calculated in the offspring of women with pre-mutated FMR1 alleles. 相似文献15.
Background
Parkinson's disease (PD) is the second most common neurodegenerative disorder. Recently, mutations in the PINK1 (PARK6) gene were shown to rarely cause autosomal-recessively transmitted, early-onset parkinsonism. In order to evaluate whether PINK1 contributes to the risk of common late-onset PD we analysed PINK1 sequence variations. A German (85 patients) and a Norwegian cohort (90 patients) suffering from late-onset PD were screened for mutations and single nucleotide polymorphisms (SNPs) in the PINK1 gene. Both cohorts consist of well-characterized patients presenting a positive family history of PD in ~17%. Investigations were performed by single strand conformation polymorphism (SSCP), denaturating high performance liquid chromatography (DHPLC) and sequencing analyses. SNP frequencies were compared by the χ2 test 相似文献16.
María-José Ariza Miguel-Ángel Sánchez-Chaparro Francisco-Javier Barón Ana-María Hornos Eva Calvo-Bonacho José Rioja Pedro Valdivielso José-Antonio Gelpi Pedro González-Santos 《BMC medical genetics》2010,11(1):66
Background
Hypertriglyceridemia (HTG) is a well-established independent risk factor for cardiovascular disease and the influence of several genetic variants in genes related with triglyceride (TG) metabolism has been described, including LPL, APOA5 and APOE. The combined analysis of these polymorphisms could produce clinically meaningful complementary information. 相似文献17.
18.
Sudeshna Dasgupta F Yesim Demirci Amy S Dressen Amy H Kao Elisa Y Rhew Rosalind Ramsey-Goldman Susan Manzi Candace M Kammerer M Ilyas Kamboh 《BMC medical genetics》2011,12(1):7
Background
Low serum paraoxonase (PON) activity is associated with the risk of coronary artery disease, diabetes and systemic lupus erythematosus (SLE). Our prior studies have shown that the PON1/rs662 (p.Gln192Arg), PON1/rs854560 (p.Leu55Met), PON3/rs17884563 and PON3/rs740264 SNPs (single nucleotide polymorphisms) significantly affect serum PON activity. Since PON1, PON2 and PON3 share high degree of structural and functional properties, in this study, we examined the role of PON2 genetic variation on serum PON activity, risk of SLE and SLE-related clinical manifestations in a Caucasian case-control sample. 相似文献19.
Karsten Müssig Fausto Machicao Jürgen Machann Fritz Schick Claus D Claussen Norbert Stefan Andreas Fritsche Hans-Ulrich Häring Harald Staiger 《BMC medical genetics》2010,11(1):84
Background
The nuclear receptor NR4A1 is implicated in metabolic regulation in insulin-sensitive tissues, such as liver, adipose tissue, and skeletal muscle. Functional loss of NR4A1 results in insulin resistance and enhanced intramuscular and hepatic lipid content. Therefore, we investigated in a cohort of white European subjects at increased risk for type 2 diabetes whether genetic variation within the NR4A1 gene locus contributes to prediabetic phenotypes, such as insulin resistance, ectopic fat distribution, or β-cell dysfunction. 相似文献20.