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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.

Aim: To assess lipid profile and the genotype distribution of lipoprotein lipase gene polymorphism at Pvu II polymorphic site within the intron between exons 6 and 7 in patients with hypertriglyceridemia., Methods: Pvu II polymorphism was determined in 116 hypertriglyceridemic patients and 50 normolipidemic controls from Zagreb, Croatia. DNA was extracted from peripheral blood mononuclear cells. Polymerase chain reaction was used for amplification of 6th intron, which was then restricted with Pvu II-restriction endonuclease. Serum lipid and lipoprotein fractions were determined by standard enzymatic methods. Cholesterol concentrations in HDL subfractions, HDL2 and HDL3, were determined after precipitation with polyethyleneglycol. Apolipoproteins (apo) A-I and B were determined by immunonephelometry., Results: Triglycerides showed a positive correlation with total cholesterol (r=0.222, 95% CI=0.041-0.389, p=0.017) and inverse correlation with HDL-cholesterol (r= -0.278, 95% CI= -0.449 to -0.088, p=0.005), especially with HDL3-cholesterol (r= -0.333, 95% CI= -0.497 to -0.147, p=0.001). The respective frequencies for genotypes /, +/, and +/+ were 22, 58, and 36 in the patient group, and 17, 17, and 16 in the control group. Serum triglycerides in the patient group, expressed as median in mmol/L, were 3.30 (range, 2.60-10.90), 3.60 (range, 2.50-21.50), and 3.99 (range, 2.50-15.56), respectively. Serum concentration of triglycerides differed significantly between the +/+ and / genotype (p=0.043)., Conclusion: There is an association between genetic variation at the locus for lipoprotein lipase and high serum triglyceride levels. This might prove useful in the detection of individuals susceptible to the development of hypertriglyceridemia, as well as a marker in the analysis of this genetic defect in patient families.

Today, approximately 15% of couples have reduced fertility. In most cases the reason is male infertility, usually of genetic origin. Thus, in the context of research in genes involved in reproduction and sex determination, genetic defects in gametogenesis are being extensively studied. The most frequent pathogenic causes of male infertility are Y chromosomal microdeletions and obstructive azoospermia due to congenital absence of the vas deferens (CAVD) in the presence of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. We have investigated the most common CFTR gene alterations in Croatian men with CAVD, using Roche research prototype assays. Results revealed that the 5T variant was present in 27% of the subjects. The F508 deletion was found in 21% of the subjects. It was the most frequent mutation, although its incidence was much lower than among patients with cystic fibrosis. The prevalence of microdeletions in the azoospermia factor region (AZF) of the Y chromosome in Croatia was 4.5%. This is the first report of Y microdeletions in the Croatian population. Genetic counseling of all couples with the diagnosis of male infertility is recommended before intrauterine insemination, in vitro fertilization, and intracytoplasmic sperm injection, and should also include AZF and CFTR genotyping. Couples requesting assisted reproductive treatment should be offered molecular analysis of the CFTR gene, if male infertility due to obstructive azoospermia is the underlying cause. Also, men with severe oligozoospermia or non-obstructive azoospermia seeking assisted reproductive treatment should be screened for deletions in the Y chromosome.

Aim: Presentation of a prenatally diagnosed case of Werdnig-Hoffmann disease, the most severe type of spinal muscular atrophy., Methods: DNA obtained from cultivated amniocytes was analyzed for deletions in the survival motor neuron gene and neuronal apoptosis inhibitory protein gene., Results: The fetus was diagnosed as an affected homozygote for deletions in exon 7 and exon 8 of the survival motor neuron gene. No deletions of exon 5 in the neuronal apoptosis inhibitory protein gene were found., Conclusion: Direct DNA deletion analysis of the survival motor neuron gene and neuronal apoptosis inhibitory protein gene in affected families represents a highly reliable and fast method for prenatal diagnosis of Werdnig-Hoffmann disease.