DISTRIBUTION OF BIOCHEMICAL AND MOLECULAR-GENETIC MARKERS OF GENES IN WORKERS OF COAL MINING ENTERPRISES OF KUZBASS REGION SUFFERING FROM CHRONIC DUST BRONCHITIS

Distribution of genotypes of biochemical markers of HP, GC, EsD, АсР genes, genotypes on polymorphic variants of the genes coding enzymes of biotransformation GSTT1 (GST-ɵ1) and GSTM1 (GST-μ1) and NOS3 (VNTR4 polymorphism) in the miners with chronic mechanic bronchitis, and in persons without this occupational pathology is investigated. It is shown that the owners of EsD 1-2, АсР bb genotypes are most subject to development of chronic mechanic bronchitis. Endogen factors of resistance to this disease are GC 1-1, EsD 1-1, АсР bc genotypes

Association of COMT gene polymorphisms with Parkinson's disease

Parkinson’s disease (PD) is one of the most serious and widespread neurodegenerative disorders. Genetic susceptibility plays a significant role in the development of PD.The aim of our study was to investigate associations between single nucleotide polymorphisms (SNPs) of the COMT gene coding dopamine catabolism enzyme and Parkinson’s disease.Materials and methods. In this study seven SNPs (rs4680, rs6269, rs4633, rs4818, rs769224, rs165774, rs174696) of COMT were genotyped. 232 patients with PD and 127 healthy individuals in the Siberian region of Russia were examined. Venous blood samples were drawn as a marker of PD. Statistical differences in the prevalence of alleles and genotypes between groups of patients were assessed using IBM SPSS Statistics 23.1 software.Results. A significant association between the rs165774 polymorphism and PD was observed. Our study demonstrates that polymorphisms in the COMT gene may play an important role in the pathophysiology of Parkinson’s disease

Profound Chemopreventative Effects of a Hydrogen Sulfide-Releasing NSAID in the APC(Min/+) Mouse Model of Intestinal Tumorigenesis

Canadian Institutes of Health Research grant to JL

Microarray study of single nucleotide polymorphisms and expression of ATP-binding cassette genes in breast tumors

Our previous research establishes that changes of expression of the ATP-binding cassette genes family is connected with the neoadjuvant chemotherapy effect. However, the mechanism of regulation of resistance gene expression remains unclear. As many researchers believe, single nucleotide polymorphisms can be involved in this process. Thereupon, microarray analysis is used to study polymorphisms in ATP-binding cassette genes. It is thus found that MDR gene expression is connected with 5 polymorphisms, i.e. rs241432, rs241429, rs241430, rs3784867, rs59409230, which participate in the regulation of expression of own genes

Geneticheskie markery i ikh vzaimosvyaz' s obmenom lipidov na etapakh razvitiya mikroangiopatiy u detey i podrostkov

Цель. Изучение взаимосвязи генетических маркеров с состоянием обмена липидов на этапах развития микроангиопатий у детей и подростков с СД типа 1. Материалы и методы. Обследовано 138 детей (73 мальчика и 65 девочек), больньных СД типа 1. Скрининг диабетической ретинопатии проводился с помощью исследования глазного дна методом прямой офтальмоскопии после расширения зрачка. Проводили исследование липидного спектра крови, определение активности ангиотензинпревращающего фермента сыворотки крови и молекулярно-генетические исследования крови. Выделение тотальной ДНК проводили с помощью неэнзиматического метода. Результаты. Анализ ассоциаций методом ?случай-контроль? не обнаружил влияния на развитие диабетических микроангиопатий Т174М полиморфизма гена AGT. Сравнение распределения генотипов и частот аллелей Т174М полиморфизма гена AG T у больных СД типа 1 в зависимости от компенсации жирового обмена показало, что в группе больных СД типа 1 с удовлетворительной компенсацией жирового обмена преобладает аллель Т (93 против 79%) и реже встречается аллель М (7 против 21%) по сравнению с больными СД типа 1 с неудовлетворительной компенсацией жирового обмена. Выводы. Нарушения липидного обмена в виде атерогенных проявлений, повышения активности АПФ способствуют развитию и прогрессированию диабетических микроангиопатий. Обнаружена зависимост ь между тяжестью СД типа 1, показателями липидного обмена (ХС и ХС-ЛПНП ) и Т174М полиморфизма гена AGT. Гомозиготы ТТ имели более низкий уровень ХС и ХС-ЛПНП

Microarray study of single nucleotide polymorphisms and expression of ATP-binding cassette genes in breast tumors

Our previous research establishes that changes of expression of the ATP-binding cassette genes family is connected with the neoadjuvant chemotherapy effect. However, the mechanism of regulation of resistance gene expression remains unclear. As many researchers believe, single nucleotide polymorphisms can be involved in this process. Thereupon, microarray analysis is used to study polymorphisms in ATP-binding cassette genes. It is thus found that MDR gene expression is connected with 5 polymorphisms, i.e. rs241432, rs241429, rs241430, rs3784867, rs59409230, which participate in the regulation of expression of own genes