Estrogen receptor 1 gene (TA)n polymorphism is associated with lone atrial fibrillation in men.

AIM: To determine the association between the number of thymine-adenine (TA)n dinucleotide repeats in the promoter region of the gene coding for the estrogen receptor alpha (ESR1) and the prevalence of lone atrial fibrillation (AF) in men. METHODS: We conducted a case-control study involving 89 men with lone AF and 166 healthy male controls. The ESR1 genotype was established by polymerase chain reaction and capillary electrophoresis. To assess the association of ESR1 genotype with AF, logistic regression models were built with AF as outcome. RESULTS: Men with lone AF had significantly greater number of (TA)n repeats of single alleles than controls (mean ± standard deviation, 19.2 ± 4.2 vs 18 ± 4.3, P = 0.010). After adjustment for other factors, a unit-increase in (TA)n repeat number was associated with a significantly greater likelihood of AF (odds ratio 1.069; 95% confidence interval 1.024-1.116, P=0.002). CONCLUSIONS: Our results indicate that a greater number of (TA)n repeats in the promoter region of ESR1 is associated with a significantly increased likelihood of lone atrial fibrillation in men.

Variants of ESR1, APOE, LPL and IL-6 loci in young healthy subjects: association with lipid status and obesity.

FINDINGS: BMI was increased (>25) in 22% of young healthy subjects. Increased cholesterol values (>5.0 mmol/L) were found in 23% of subjects, LDL-C (>3.0 mmol/L) in 23%, triglycerides (>1.7 mmol/L) in 11% of subjects. We found statistically significant differences in subjects' weight (p = 0.015), BMI (p = 0.023), and waist-hip ratio (WHR) (p = 0.015) in regard to their diet type; subjects with Mediterranean diet had the lowest values compared to those on continental and mixed diet. Significant associations were found for: LPL genetic polymorphic variant and abdominal obesity (p = 0.013), APO epsilon4 allele and hypercholesterolemia (p = 0.003), and ESR1-TA long allele and hypercholesterolemia (p = 0.011). BACKGROUND: Human obesity is a multifactorial syndrome influenced also by genetic factors. Among gene variants found to be involved in body weight regulation and development of obesity, particular attention has been paid to polymorphisms in genes associated with obesity-related metabolic disorders. We explored the association of genetic polymorphisms of: estrogen receptor alpha (ESR1-TA repeats); interleukin-6 (IL-6 G-174C); apolipoprotein E (APO epsilon2, epsilon3, epsilon4); lipoprotein lipase Pvu II (LPL P+/-), with clinical variables: gender, age, body mass index (BMI), diet type and biological variables: triglycerides, cholesterol, HDL-C, LDL-C, CRP, homocysteine, urate, and glucose in 105 healthy young subjects (20-35 yrs) of Croatian origin. METHODS: Genotyping of IL-6, LPL was performed by PCR-RFLP, of APOE by real-time PCR, and of ESR1 by PCR and capillary electrophoresis. Association analyses were performed of alleles and genotypes with biological variables. CONCLUSION: ESR-1, LPL, and APO E genetic polymorphic variants could represent predictive genetic risk markers for obesity-related metabolic disorders in young healthy subjects. Mediterranean type of diet is also an important protective factor against abdominal obesity.

[Analysis of DNA samples by Abbott Commercial Tests for cystic fibrosis]. / Analiza uzoraka DNA komercijalnim testovima za cisticnu fibrozu tvrtke Abbott.

The use of commercial tests (Abbott) for cystic fibrosis, version 2 (CFv. 2) and 3 (CFv. 3) and analysis of reaction products by capillary electrophoresis and genotyping on an ABI PRISM 310 genetic analyzer (Applied Biosystems) are presented, along with the results of test validation by concurrent processing of DNA samples on a Light Cycler (Roche Diagnostics) and INNO-LIPA CFTR 19 multiparameter screening test (Innogenetics). The new Abbott commercial test for cystic fibrosis, CFv. 3, allows for determination of the exact number of the potential gene mutations (33 mutations). Other mutations may be present but cannot be established by using this test. Distribution frequency of CFTR gene mutations varies in populations, and this test covers the most frequent mutatiocs in the world. Based on the results obtained by validation, the use of this test is recommended for the following reasons: - the diagnosis of cystic fibrosis is reliable and relatively inexpensive since the reaction products allow for the most current analysis by means of capillary electrophoresis, and computer data processing which will soon enable routine sequencing and thereby determination of point mutations, - it is possible to use very small quantities of isolated DNA and to directly apply microvolumes of blood with EDTA, and - identification of a large number of current mutations has been made possible.

[Development of laboratory information system--quality standards]. / Razvoj laboratorijskog informacijskog sustava--norme kvalitete.

The aim of the study was to determine structural modules of laboratory information system (LIS) for the application of new biomedical and information technologies by utilizing current organizational trends. The method used included definition of structural modules according to significant LIS properties, e.g., a large number of data, automation of analyses and rapid exchange of information, and according to the process of information establishment the collection, organization, selection, synthesis and distribution. Thus, outdated distributed software at the Clinical Institute of Laboratory Diagnosis has now been replaced by modular organization. Modules have been developed for the following: data input, online operation of laboratory instruments, preparation of results, compilation of medical documentation on quality assurance based on the application of quality standards, management of finances, and for point of care testing. The method of re-engineering as well as adherence to EN and ISO quality standards were utilized in planning the development of LIS based on the application of new information technologies and in shaping business processes. The application of re-engineering in LIS development results in quality improvement, reduces the cost and time necessary for performance of procedures, and improves relations in organizational structure.