Abstract: Osteoporosis is a complex health disease characterized by low bone mineral density, which is determined by an interaction of genetics with metabolic and environmental factors. Current research in genetics of osteoporosis is focused on identification of responsible genes and polymorphisms. TNFRSF11B gene plays a key role in bone remodeling. The aim of this study was to investigate the genotype and allele distribution of A163G (rs3102735) osteoprotegerin gene promoter and G1181C (rs2073618) osteoprotegerin first exon polymorphisms in the group of 180 unrelated postmenopausal women with diagnosed osteoporosis and 180 normal controls. Genomic DNA was isolated from peripheral blood leukocytes using standard methodology. Genotyping for presence of different polymorphisms was performed using the Custom Taqman®SNP Genotyping assays. Hardy-Weinberg equilibrium was tested for each SNP in the groups of participants using the chi-square (χ2) test. The distribution of investigated genotypes in the group of patients with osteoporosis were as follows: AA (66.7%), AG (32.2%), GG (1.1%) for A163G polymorphism; GG (19.4%), CG (44.4%), CC (36.1%) for G1181C polymorphism. The distribution of genotypes in normal controls were follows: AA (71.1%), AG (26.1%), GG (2.8%) for A163G polymorphism; GG (22.2%), CG (48.9%), CC (28.9%) for G1181C polymorphism. In A163G polymorphism the variant G allele was more common among patients with osteoporosis: 17.2% versus 15.8% in normal controls. Also, in G1181C polymorphism the phenomenon of more frequent occurrence of C allele in the group of patients with osteoporosis was observed (58.3% versus 53.3%). Genotype and allele distributions showed no significant differences (A163G: χ2=0.270, p=0.605; χ2=0.250, p=0.616; G1181C: χ2= 1.730, p=0.188; χ2=1.820, p=0.177). Our results represents an initial study, further studies of more numerous file and associations studies will be carried out. Knowing the distribution of genotypes is important for assessing the impact of these polymorphisms on various parameters associated with osteoporosis. Screening for identification of “at-risk” women likely to develop osteoporosis and initiating subsequent early intervention appears to be most effective strategy to substantially reduce the risks of osteoporosis.
Abstract: Dilated cardiomyopathy (DCM) is a severe
cardiovascular disorder characterized by progressive systolic
dysfunction due to cardiac chamber dilatation and inefficient
myocardial contractility often leading to chronic heart failure.
Recently, a genome-wide association studies (GWASs) on DCM
indicate that the ZBTB17 gene rs10927875 single nucleotide
polymorphism is associated with DCM. The aim of the study was to
identify the distribution of ZBTB17 gene rs10927875 polymorphism
in 50 Slovak patients with DCM and 80 healthy control subjects
using the Custom Taqman®SNP Genotyping assays. Risk factors
detected at baseline in each group included age, sex, body mass
index, smoking status, diabetes and blood pressure. The mean age of
patients with DCM was 52.9±6.3 years; the mean age of individuals
in control group was 50.3±8.9 years. The distribution of investigated
genotypes of rs10927875 polymorphism within ZBTB17 gene in the
cohort of Slovak patients with DCM was as follows: CC (38.8%), CT
(55.1%), TT (6.1%), in controls: CC (43.8%), CT (51.2%), TT
(5.0%). The risk allele T was more common among the patients with
dilated cardiomyopathy than in normal controls (33.7% versus
30.6%). The differences in genotype or allele frequencies of ZBTB17
gene rs10927875 polymorphism were not statistically significant
(p=0.6908; p=0.6098). The results of this study suggest that ZBTB17
gene rs10927875 polymorphism may be a risk factor for
susceptibility to DCM in Slovak patients with DCM. Studies of
numerous files and additional functional investigations are needed to
fully understand the roles of genetic associations.