scholarly journals Polygenic and miltufactorial disorders

Genetika ◽  
2007 ◽  
Vol 39 (2) ◽  
pp. 283-290 ◽  
Author(s):  
Snezana Pajovic

Many factors influence our susceptibility to disease. These include our stress load, our environment and the toxins we absorb from it, the total number of infectious agents we are exposed to as well as our underlying genetic susceptibility to these diseases. Multifactorial is the term given to the mode of transmission shown by a large number of diseases which show familial clustering but which is not in accord with any recognized pattern of single gene inheritance. These diseases include several common congenital malformations and acquired disorders of childhood and adult life. The underlying genetic mechanism is thought to involve interaction of relatively large numbers of genes - hence oligogenic or polygenic - with environmental factors. The ultimate cause of Alzheimer?s (AD) is unknown. Genetic factors are suspected, and dominant mutations in three different genes have been identified that account for a much smaller number of cases of familial, early -onset AD. For the more form of late onset AD, ApoE is the only repeatedly confirmed susceptibility gene. Coronary artery disease is well-recognized complication of several single-gene disorders involving lipid metabolism. Over 20 genes have been proposed as candidates for polygenic coronary artery disease. These include genes which control lipid metabolism, blood pressure, clotting, and fibrinolysis.

2008 ◽  
Vol 24 (3) ◽  
pp. 175-179 ◽  
Author(s):  
Renato Scacchi ◽  
Giuseppe Gambina ◽  
Elisabetta Broggio ◽  
Maria Ruggeri ◽  
Rosa Maria Corbo

The human endothelin-converting enzyme (ECE) is involved inβ-amyloid synthesis and regulation of the endothelin-1 (ET-1) vasoconstricting peptide. We investigated the distribution of the C-338A polymorphism of the ECE-1b gene in sporadic late-onset Alzheimer’s disease (LOAD) and in coronary artery disease (CAD) to verify its role in the onset of these two complex diseases. Two cohorts of 458 Italian Caucasian LOAD patients and 165 CAD patients were examined for the C-338A polymorphism and compared with respective control samples (260 and 106 subjects, respectively). The A allele was less present in LOAD patients than in controls, but an at limits statistically significant difference was achieved only in subjects aged less than 80 years, where only the AA genotypes appeared to have a protective role against the onset of the sporadic LOAD. For the overall CAD sample the pattern was similar and significant differences were observed only in subjects non carrying the apolipoprotein E (APOE) e*4 allele, where the A allele carrying genotypes had a protective role against the onset of the disease.


2003 ◽  
Vol 339 (1) ◽  
pp. 17-20 ◽  
Author(s):  
Renato Scacchi ◽  
Giuseppe Gambina ◽  
Maria Cristina Martini ◽  
Elisabetta Broggio ◽  
Teresio Vilardo ◽  
...  

2018 ◽  
Vol 2018 ◽  
pp. 1-12 ◽  
Author(s):  
Heng Lu ◽  
Yi Chen ◽  
Linlin Li

Coronary artery disease (CAD) is one of the leading threats to global health. Previous research has proven that metabolic pathway disorders, such as high blood lipids and diabetes, are one of the risk factors that mostly cause CAD. However, the crosstalk between metabolic pathways and CAD was mostly studied on physiology processes by analyzing a single gene function. A canonical correlation analysis was used to identify the metabolic pathways, which were integrated as a unit to coexpress with CAD susceptibility genes, and to resolve additional metabolic factors that are related to CAD. Seven pathways, including citrate cycle, ubiquinone, terpenoid quinone biosynthesis, and N-glycan biosynthesis, were identified as an integrated unit coexpressed with CAD genes. These pathways could not be revealed as a coexpressed pathway through traditional methods as each single gene has weak correlation. Furthermore, sets of genes in these pathways were candidate markers for diagnosis and detection from patients’ serum.


1992 ◽  
Vol 13 (1) ◽  
pp. 63-71 ◽  
Author(s):  
Enis TAMUGUR ◽  
Mithat ÖZER ◽  
Gül GÜNER ◽  
Mahmoud DJAVANI

2021 ◽  
Vol 17 (1) ◽  
pp. 133-137
Author(s):  
Nodir Kayumov Ulug’bekovich ◽  
Djamshid Payziev Djuravaevich ◽  
Orziev Daler Zavkiddinovich

The article discusses topical issues of treatment and rehabilitation strategies in patients with ischemic heart disease (IHD). The results of our own research on assessing the effectiveness of complex rehabilitation of patients with myocardial changes with the study of indicators of lipid metabolism, platelet aggregation, functional state of patients with coronary artery disease, after stenting of the coronary arteries have been stated in the article.


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