Candidate Gene Polymorphisms (candidate + gene_polymorphism)

Distribution by Scientific Domains
Medical Sciences100%

Selected Abstracts

Interferon-, +874A/T and interleukin-4 intron3 VNTR gene polymorphisms in Chinese patients with idiopathic thrombocytopenic purpura

EUROPEAN JOURNAL OF HAEMATOLOGY, Issue 3 2007
Xiaoli Chen
Abstract Objectives:, The polarization of Th1/Th2 towards Th1 contributes to the pathogenesis of idiopathic thrombocytopenic purpura (ITP). Cytokines may play crucial roles in the pathogenesis of ITP. The purpose of this study was to investigate whether the interferon (IFN)-, +874(A/T) and interleukin-4 (IL-4) variable number of tandem repeats (VNTR) in intron3 polymorphisms may be responsible in part for genetic susceptibility to ITP. Methods:, Genotyping of IFN-, +874A/T and IL-4 intron3 VNTR was performed in 196 patients with ITP and 128 healthy individuals by polymerase chain reaction sequence-specific primers and direct PCR respectively. Results:, There was no association between IFN-, +874A/T and IL-4 intron3 VNTR polymorphism and ITP risk when all patients, as a group, were analyzed. When the patients were subdivided into two groups: childhood ITP and adult ITP, no statistical differences were found in the genotype and allele frequencies of IFN-, +874A/T and IL-4 intron3 VNTR between the two groups and the controls. Similar results were observed between acute childhood ITP, chronic childhood ITP, acute adult ITP or chronic adult ITP and the controls. Conclusion:, These polymorphisms were distributed similarly between the patients with ITP and the controls, demonstrating that these two candidate gene polymorphisms are not attributed to ITP susceptibility. [source]

Genetic susceptibility to tobacco smoke toxicity and chronic obstructive pulmonary disease

GERIATRICS & GERONTOLOGY INTERNATIONAL, Issue 1 2002
Shinji Teramoto
Because elderly patients with chronic obstructive pulmonary disease are often overlooked, screening efforts are at the moment directed at higher risk subjects such as heavy smokers with obstructive airways disease. Because only 10,20% of heavy smokers developed symptomatic airflow obstruction, a different genetic susceptibility to cigarette smoke-lung injury is implicated in the pathogenesis of chronic obstructive pulmonary disease. Several candidate gene polymorphisms are proposed as the genetic risk for the development of chronic obstructive pulmonary disease. The current candidates are the polymorphisms in the 3, non-coding region of the ,1-antitypsin gene, ,1-antichymotrypsin gene, tumor necrosis factor- , gene, microsomal epoxide hydrolase gene, and glutathione S- transferase P1 gene, and microsatellite polymorphism in the heme oxygenase-1 gene promoter. However, the results are variously reported between Japanese and Caucasians. The association studies of the polymorphisms with chronic obstructive pulmonary disease require further confirmation in different ethnic groups by other researchers using a large population. The current strategy and pitfalls of the gene explorations of chronic obstructive pulmonary disease are discussed. [source]

Pharmacogenetic interactions of three candidate gene polymorphisms with ACE-inhibitors or ,-blockers and the risk of atherosclerosis

BRITISH JOURNAL OF CLINICAL PHARMACOLOGY, Issue 1 2007
H. Schelleman
What is already known about this subject ,,To our knowledge, there are no prior studies which investigate whether there is a drug,gene interaction between the three genes involved in the renin,angiotensin system and ACE-inhibitor therapy or ,-blocker therapy with these subclinical measurements of atherosclerosis. ,,Some studies have found an effect on blood pressure or stroke/myocardial infarction, although the results are not conclusive. What this study adds ,,The results do not indicate the presence of a strong drug,gene interaction between the use of ACE-inhibitors or ,-blockers and the ACE insertion/deletion, AGT M235T or AGTR1573C/T polymorphism on the overall risk of atherosclerosis. Aims To investigate whether the angiotensin-converting enzyme (ACE) insertion/deletion (I/D), angiotensinogen M235T or angiotensin II receptor type 1 573C/T polymorphism modify the risk of atherosclerosis associated with ,-blocker or ACE-inhibitor therapy. Methods Data were used from the Rotterdam Study, a population-based prospective cohort study in the Netherlands, which started in 1990 and included 7983 subjects of , 55 years. In this study, 2216 subjects with hypertension were included. Three subclinical measurements were used for atherosclerosis, i.e. peripheral arterial disease, carotid atherosclerosis and aortic atherosclerosis. The interaction between antihypertensive drugs and genetic polymorphisms on the risk of atherosclerosis was determined with binary logistic regression analysis. Results The risk of aortic atherosclerosis associated with long-term (,4 years) ,-blocker treatment compared with no use of ,-blockers was higher in subjects with the TT genotype than in subjects with the MM genotype of the AGT gene [synergy index (SI) = 3.36; 95% confidence interval (CI) 1.14, 9.97]. The risk of carotid atherosclerosis associated with long-term ACE-inhibitor treatment compared with no use of ACE-inhibitors was lower in subjects with the TT genotype than in subjects with the MM genotype of the AGT gene (SI = 0.20; 95% CI 0.04, 0.95). Conclusion Overall, the risk of atherosclerosis in hypertensives taking a ,-blocker or ACE-inhibitor-based regimen was not strongly modified by any of the three candidate gene polymorphisms. [source]