The association between gene variant rs7635818 located on chromosome 3p12.3 and abdominal aortic aneurysm (AAA) was not unambiguously determined by the results of genome-wide association studies. The aim of our study was to examine this possible association in the Slovak population, with respect to the presence and severity of AAA.A cross-sectional study was conducted between August 2016 and March 2020. The study included 329 participans, 166 AAA patients and a control group of 163 subjects without confirmed AAA with comparable distribution of genders. The anteroposterior diameter of the abdominal aorta was determined by duplex ultrasonography. AAA was defined as subrenal aortic diameter ≥ 30 mm. DNA samples were genotyped using real-time polymerase chain reaction and subsequent high-resolution melting analysis in presence of unlabelled probe. Genetic models studying the possible association were adjusted to age, sex, smoking, arterial hypertension, diabetes mellitus, creatinine and body mass index (BMI) in multivariate analysis. In the additive model, presence of each C-allele of rs7635818 polymorphism was associated with an almost 50 % increase in probability of developing AAA (OR 1.49; 95 % CI 1.06-2.08; p=0.020). Compared to GG homozygotes, CC homozygotes had more than two times higher risk of developing AAA (OR 2.23; 95 % CI 1.14-4.39; p=0.020). The risk of AAA was also in the recessive model higher for CC homozygotes compared to G-allele carriers (GC/GG) (OR 1.79; 95 % CI 1.01-3.19; p=0.047).The abdominal aortic diameter in CC homozygotes of the rs7635818 polymorphism was 7.66 mm greater compared to GG homozygotes (42.5±22.0 mm vs 34.8±21.3 mm; p=0.022) and 5.88 mm greater compared to G-allele carriers (GC/GG) (42.5±22.0 mm vs 36.6±21.0 mm; p=0.04) in univariate analysis. C-allele variant in rs7635818 G>C polymorphism is associated with a higher probability of developing AAA in the Slovak population.
- MeSH
- aneurysma břišní aorty diagnostické zobrazování etnologie genetika MeSH
- běloši genetika MeSH
- fenotyp MeSH
- genetická predispozice k nemoci MeSH
- genetické asociační studie MeSH
- hodnocení rizik MeSH
- jednonukleotidový polymorfismus * MeSH
- lidé středního věku MeSH
- lidé MeSH
- lidské chromozomy, pár 3 * MeSH
- průřezové studie MeSH
- rizikové faktory MeSH
- senioři MeSH
- studie případů a kontrol MeSH
- stupeň závažnosti nemoci MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Česká republika MeSH
Vaskulárne kalcifikácie (VK) sa pokladajú za formu extraskeletálnej osifikácie. Vznikajú pri nerovnovážnom stave medzi induktormi a inhibítormi kalcifikácie v teréne zápalových, metabolických a genetických chorôb, kedy dochádza k transformácii bunky cievnej steny do bunky podobnej osteoblastu. Transformovaná bunka je schopná produkcie kostnej matrix a mineralizácie. V cievnej stene bola dokumentovaná prítomnosť markerov osteogenézy, osteoblastových a chondrocytových transkripčných faktorov a všetky stupne enchondrálnej osifikácie. Predpokladá sa súvislosť medzi stupňom osteoporózy a závažnosťou VK. Regresia už vytvorenej kalcifikácie je vzhľadom na jej extrémnu nerozpustnosť otázna. K základným terapeutickým opatreniam pri vaskulárnych kalcifikáciách patrí kontrola rizikových faktorov (hyperfosfatémia, krvná tenzia, hyperlipidémia) a liečba základného ochorenia. Kľúčové slová: vaskulárne kalcifikácie, aktivátory vaskulárnej kalcifikácie, inhibítory vaskulárnej kalcifikácie, ateroskleróza, mediokalcinóza
Vascular calcifications (VC) are considered a form of extraskeletal ossification. They are induced by unbalanced state between inducers and inhibitors of calcification in the vessel wall in inflammatory, metabolic and genetic diseases. As a result of this failure, a cell of the vessel wall is transformed in an osteoblast-like cell. The transformed cell is capable of producing bone matrix and mineralization. The presence of markers of osteogenesis, osteoblast and chondrocyte transcription factors and all phases of endochondral ossification was documented in the vessel wall. The relationship between the degree of osteoporosis and VC is supposed, too. Regression of already established calcification is questionable in view of its extreme insolubility. The primary therapeutic measure in vascular calcification is to control the risk factors (hyperphosphatemia, blood tension, hyperlipidemia) and treatment of the underlying disease. Key words: vascular calcifications, activators of vascular calcification, inhibitors of vascular calcification, atherosclerosis, medial arterial calcification
Asociácia osteoporózy a diabetes melitus 1. typu (DM 1) je nespochybniteľná, pretrváva však nejednotnosť v názore na osteoporózu a riziko zlomenín pri diabete mellite 2. typu (DM 2). Metaanalýzy observačných štúdií pri DM 2 dokumentujú u oboch pohlaví signifikantne vyššiu denzitu kostí v oblasti femuru a chrbtice. Napriek vyššej denzite kostí je riziko zlomenín v oblasti proximálneho konca femuru, chrbtice, členka a nohy pri DM 2 zvýšené a stanovenie kostnej denzity (BMD – bone mineral density) riziko fraktúry podhodnocuje. Príčina vyššieho výskytu zlomenín pri DM 2 nie je plne objasnená. Predpokladá sa podiel chronickej hyperglykémie s tvorbou pokročilých produktov glykácie, inzulínovej rezistencie, poruchy na úrovni adipokínov v teréne zvýšeného rizika pádov pri početných komplikáciách diabetu. Hoci kosti majú vyššiu denzitu, sú fragilnejšie. Metabolizmus kostného tkaniva môže byť ovplyvnený farmakoterapiou diabetu a pridružených ochorení.
The association of osteoporosis and Type 1 diabetes mellitus (T1DM) is beyond doubt; however, there remains inconsistency in opinion concerning osteoporosis in Type 2 diabetes mellitus (T2DM). Meta-analyses of observational studies in T2DM have documented, in both sexes, significantly higher bone density (BMD) of the femur and of the spine. Despite the increased BMD, fracture risk of the proximal end of the femur, spine, ankle and foot in T2DM is increased, thus detection of BMD underestimates fracture risk. Mechanism of increased bone fragility in T2DM is not fully explained; the proportion of chronic hyperglycaemia with formation of advanced glycation products, insulin resistance and also adipokines is assumed. Numerous complications of diabetes increase risk of falls. Although bones are stronger, they are more fragile. Bone metabolism might be affected by pharmacotherapy of diabetes and associated diseases.
