A Novel Association of Polymorphism in theITGA4Gene Encoding the VLA-4α4 Subunit with Increased Risk of Alzheimer’s Disease

Alzheimer’s disease (AD) is the most prevalent cause of dementia in elderly people worldwide. Many studies support the hypothesis that the inflammation of the CNS contributes to the neurodegeneration and disease progression. The integrin moleculeα4β1, also known as very late antigen 4 (VLA-4), belongs to adhesion molecules that activate the inflammatory process through the migration of immune cells into the CNS. Therefore, the objective of our study was to analyze the association between two polymorphisms located in theITGA4gene encoding theα4 subunit of VLA-4 and the risk of AD. 104 late-onset AD patients and 206 control subjects from Slovakia were genotyped forITGA4gene SNP polymorphism rs113276800 (−269C/A) and rs1143676 (+3061A/G). The same study cohorts were also genotyped for theAPOE-ε4, which is a known genetic factor associated with increased risk of AD developing.ITGA4polymorphism analysis revealed significantly higher frequency of the +3061AG carriers in AD group compared to the controls (P≤0.05). Following theAPOE-ε4 stratification of study groups, the association remained significant only inAPOE-ε4 noncarriers. Our study suggests a novel association ofITGA4+3061A/G polymorphism with AD and its possible contribution to the disease pathology.

Effect of G2548A polymorphism in the leptin gene on the BMI level in human population

The polymorphism in leptin (LEP 2548A) seems to influence obesity among others genes. The aim of this study is to investigate the effect of the G2548A polymorphism on body mass index. We included 79 people from Slovakia with some genetic relatedness and used barrels kit to isolate the genomic DNA from an adenoblast swab- from the salivary. PCR products were amplified by pursued polymorphisms and G2548A, we restriction-analyzed them and then we identified the specific fragments describing the presence of chosen SNP polymorphism by the agarose electrophoresis, to analyze SNP polymorphism by PCR-RFLP method. The LEP gene had increased frequency of G allele (0.5506). The most common genotype occurring in the gene LEP was heterozygous genotype (AG) and the least frequent genotype in LEP was AA (0.1899). Taking the age into account the BMI is higher if the G allele occurs in the LEP gene. Moreover, if the G allele genotype was situated in dominant form, then the highest average BMI was present. According to the results we can assume that the AA genotype (LEP) has a protective effect on the prevalence of obesity compared to the other genotypes.

SNP Genetic Diversity Within a Fragment of the Gene Myo15a Responsible for the Hearing Process in a Population of Farmed and Free-Living Animals of the Canidae Family/SNP Genetski Deverzitet U Okviru Fragmenta Gena Myo15a, Odgovornog Za Sluh U Populaciji Životinja Familije Canidae U Uslovima Farmskog I Slobodnog Uzgoja

The gene MYO15A is involved in the production of a protein included in the group of motor proteins known as myosins. Myosin XVA is located in the inner ear, the pituitary gland and other tissues, and has a substantial influence on the hearing process. Mutations in this gene cause amino acid substitutions in the conserved motor domain of the myosin chain, leading to shortening of the stereocilia in the hair cells, so that the function of myosin XVA is impaired. A research hypothesis was put forth that mutations in the gene responsible for the hearing process in animals of the Canidae family can cause hypoacusis, as well as substantial behavioural changes in dogs (ranging from timidity to aggressive behaviour). The study determined SNP polymorphism in a fragment of the gene MYO15A, which can cause hearing disorders or hypoacusis, in wild and farmed individuals of the Canidae family.