scholarly journals Heterozygote polymorphisms of ARG16GLY and GLN27GLU ADRB2 gene is risk protective for obesity in Javanese population of Indonesia

2018 ◽  
Vol 17 (37) ◽  
pp. 1172-1179
Author(s):  
Rahma Shafriani Nazula ◽  
Hastuti Pramudji ◽  
Hamim Sadewa Ahmad
Keyword(s):  
2019 ◽  
pp. 38-45
Author(s):  
L.A. Livshits ◽  
◽  
P.F. Tatarsky ◽  
O.V. Gorodna ◽  
A.V. Mayakovskaya ◽  
...  

2006 ◽  
Vol 1 (2) ◽  
pp. 83-88 ◽  
Author(s):  
M. C. Ochoa ◽  
M. J. Moreno-Aliaga ◽  
M. A. Martínez-González ◽  
J. A. Martínez ◽  
A. Marti ◽  
...  
Keyword(s):  

Gene X ◽  
2019 ◽  
Vol 3 ◽  
pp. 100019
Author(s):  
Stefan G.J.A. Camps ◽  
Sanne P.M. Verhoef ◽  
Freek G. Bouwman ◽  
Edwin C.M. Mariman ◽  
Klaas R. Westerterp

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 1959-1959
Author(s):  
Meyling H. Cheok ◽  
Cong Ding ◽  
Wenjian Yang ◽  
Somas Das ◽  
Dario Campana ◽  
...  

Abstract Acute lymphoblastic leukemia (ALL) in children is a paradigm of disseminated cancer that is curable with chemotherapy, yet current treatment fails to cure about 20% of patients, for reasons that remain unknown. In a genome-wide assessment of in vivo treatment-induced changes in gene expression in ALL cells using the Affymetrix U95A and U133A oligonucleotide microarray, we found that patients who eventually relapsed did not up-regulate expression of the pro-apoptotic beta-2 adrenergic receptor gene (ADRB2) in their ALL cells after initial treatment with methotrexate and mercaptopurine. After treatment we observed a 5-fold lower level of ADRB2 gene expression in leukemia cells of patients who ultimately relapsed. We found a common genetic polymorphism in the ADRB2 promoter that was significantly linked to high-dose methotrexate induced up-regulation in ADRB2 gene expression in ALL cells. Moreover, the ADRB2 promoter haplotype was significantly linked to poor early treatment response in ALL cells from 242 children (i.e., probability of event-free survival at two years, p=0.0275 stratified by risk groups). These findings have revealed a germline polymorphism that is linked to the early antileukemic effects of ALL chemotherapy and provide new insights into genetic determinants of ALL treatment efficacy.


2018 ◽  
Vol 154 (6) ◽  
pp. S-86-S-87
Author(s):  
Stephen Hasak ◽  
Amit Patel ◽  
Billy D. Nix ◽  
Gregory S. Sayuk ◽  
Rodney D. Newberry ◽  
...  

2021 ◽  
Vol 20 (2) ◽  
pp. 71-76
Author(s):  
E.S. Minina ◽  
◽  
V.I. Novikova ◽  
P.D. Novikov ◽  
A.S. Babenka ◽  
...  

Objectives. To study the role of the ADRB2 gene polymorphism (rs1042713) in the impaired external respiratory function in children with bronchial asthma (BA). Material and methods. The study group included 60 children aged 3-17 years with allergic (n=37) and mixed form of BA (n=23). The genotyping of the investigated gene locus was performed by PCR-RFLP (polymerase chain reaction - restriction fragment length polymorphism), BA control was exercised using the Asthma Control Test (ACT). Results. The analysis of allele frequencies showed an association of allele A with normal spirogram parameters in patients with BA (p=0.042). In children under 12 years, there were statistically significant differences in spirogram indices when comparing patients with genotypes AA and GG (p=0.045). An association of allele A with the absence of pathological changes was revealed when evaluating the results of spirometry (p=0.021). There was a moderate positive correlation (r=0.615, p=0.011) between the assessment of nocturnal symptoms (Asthma Control Test) and the genotype of the ADRB2 gene polymorphism in children aged 12 years and older. Conclusions. An association of the ADRΒ2 gene polymorphism (rs1042713) with the external respiratory function was revealed in an objective study by spirometry and a subjective assessment of this indicator by the patient himself/herself or by his/her parents. This gene locus can be included in the BA target panel in order to determine the likelihood of uncontrolled course development of the disease with impaired external respiratory function and in the future to develop an individual program for dispensary observation of the patient.


2019 ◽  
Vol 25 (4) ◽  
pp. 322-327
Author(s):  
Íncare Correa de Jesus ◽  
Lupe Furtado Alle ◽  
Luciane Viater Tureck ◽  
Larissa Rosa da Silva ◽  
Wendell Arthur Lopes ◽  
...  

ABSTRACT Introduction: Studies of association between obesity and genetic factors have demonstrated a significant contribution of polymorphisms related to body fat distribution and subclinical inflammatory process. Objective: To investigate the association between genotypes of the Gln27Glu polymorphism of the ADRB2 gene and indicators of adiposity, inflammatory markers, metabolic parameters and parameters of physical fitness in overweight adolescents. Methods: A total of 44 male and female adolescents, aged between 13 and 17 years, with positive clinical diagnosis of overweight, were divided into two groups according to the Gln27Glu polymorphism genotypes of the ADRB2 gene: a) Group of carriers of the 27Glu allele (Gln27Glu/Glu27Glu) (n = 22); b) Group of non-carriers of the 27Glu allele (Gln27Gln) (n = 22). Both groups were evaluated for body composition, sexual maturation, cardiorespiratory fitness variables and indicators of muscle strength. Basal glycemia and insulin, lipid profile and inflammatory profile were measured. Abdominal subcutaneous and visceral adiposities were evaluated by ultrasonography. Genotyping of the Gln27Glu polymorphism of the ADRB2 gene was performed by the Taqman allelic discrimination assay. Results: The genotype frequency found was: Gln/Gln (n = 22) (50.0%), Gln/Glu (n = 18) (41.0%) and Glu/Glu (n = 4) %). The frequency of the 27Glu allele was 29.5%. The group of adolescent carriers of the 27Glu allele of the ADRB2 gene presented higher mean adiposity indicators (abdominal circumference, trunk fat mass and visceral fat), as well as lower IL-10 concentrations when compared to non-carriers. Conclusions: The 27Glu allele was associated with adiposity indicators in overweight adolescents, while subcutaneous abdominal fat exhibited an inverse relationship with inflammatory variables and maximum oxygen uptake, which may result in more damage to health. Level of evidence III; Case-control study.


2020 ◽  
Vol 3 (3) ◽  
pp. 194-197
Author(s):  
G.F. Proklova ◽  
◽  
R.A. Chilova ◽  
E.A. Sokova ◽  
R.E. Kazakov ◽  
...  

This paper reviews the effects of ADRB2 gene polymorphism on the efficacy of tocolytic therapy in preterm birth. Statistically, prematurity accounts for 70% to 75% of neonatal and infant mortality while stillbirths are 13 times more common in preterm birth compared to full-term birth. Despite modern diagnostic and treatment options to manage threatened preterm labor, its rate does not reduce. Meanwhile, pregnancy prolongation even by 48 hours is often enough to prevent newborn respiratory distress syndrome thereby improving perinatal outcomes, saving many lives of preterm babies, and preventing disability. That is why it is so important to initiate early maximally efficient and safe for a fetus tocolytic therapy aimed at prolonging the pregnancy. It was demonstrated that individual genetic variations determining intranatal phenotype exist. However, the associations between genetic characteristics and the rate of labor activity were currently demonstrated only for single genes. This is particularly true for a gene encoding β2-adrenergic receptors whose stimulation in the uterus and cervix by endogenous and exogenous agonists relaxes smooth muscles.KEYWORDS: preterm birth, perinatal outcome, tocolytic therapy, ADRB2 gene polymorphism, β2-adrenergic receptors, single nucleotide polymorphism.FOR CITATION: Proklova G.F., Chilova R.A., Sokova E.A. et al. Effect of ADRB gene polymorphism on the efficacy and safety of tocolytic therapy with β2-adrenergic agonists in preterm birth. Russian Journal of Woman and Child Health. 2020;3(3):194–197. DOI: 10.32364/2618-8430-2020-3-3-194-197.


Author(s):  
K.S. Pavlova ◽  
D.S. Mdinaradze ◽  
I.A. Kofiadi ◽  
O.M. Kurbacheva

Статья представляет собой реферативно-аналитический обзор исследований, посвященных изучению полиморфизмов генов 2-адренорецептора (ADRB2) и их ассоциаций со степенью тяжести бронхиальной астмы (БА) и ответа на стандартную фармакотерапию. Результаты анализа продемонстрировали высокую неоднородность полученных данных, что усугубляется различным целями, задачами и дизайном этих исследований. Учитывая то, что полиморфизм гена ADRB2 влияет на экспрессию данного рецептора, можно было бы предположить, что такие пациенты с БА будут демонстрировать низкий ответ на короткодействующие 2-агонисты (КДБА) и длительно действующие 2-агонисты (ДДБА), а в качестве бронхолитической терапии для них предпочтительны коротко- и длительно действующие холинергические средства. По изученным нами публикациям невозможно сделать однозначного вывода о связи полиморфизмов генов ADRB2 и ответа на КДБА и ДДБА. Данные, демонстрирующие распространенность гомозиготных аллелей и изучаемых ассоциаций среди представителей различных популяций, противоречивы. Достижение контроля над симптомами является основной целью терапии БА, в то же время, несмотря на наличие современных эффективных фармакологических средств, для ограниченного контингента среди пациентов с БА это не представляется возможным. Данные аспекты обусловливают необходимость изучения молекулярно-генетических механизмов патогенеза БА с целью улучшения диагностики и индивидуального подхода к выбору фармакотерапии для пациентов с плохим контролем БА.This article represents an abstract and analytical review of studies devoted to the polymorphisms of 2-adrenergic receptor gene (ADRB2) and their associations with the degree of severity of bronchial asthma (BA) and response to standard pharmacotherapy. The results of the analysis showed a high heterogeneity of the data obtained, which is aggravated by different goals, objectives and study design. If the polymorphism of ADRB2 gene affects the expression of this receptor, it is possible that these asthma patients will show a low response to SABA / LABA short- and long-acting anticholinergics will be preferred as bronchodilators. It is impossible to make a unique conclusion about the association between the polymorphisms of ADRB2 gene and the SABA / LABA responsiveness according to the results of analyzed publications. Data of the prevalence of homozygous alleles and studied associations among different populations are contradictory. Achievement of the asthma symptoms control is the main goal of asthma therapy. At the same time its impossible for a limited number of asthma patients in spite of the provision of current effective pharmacological resources. These aspects necessitate the research of the molecular-genetic mechanisms of pathogenesis in order to improve diagnostics and individual approach to the pharmacotherapy choice for patients with poor asthma control.


Vrach ◽  
2021 ◽  
Vol 32 (8) ◽  
pp. 54-57
Author(s):  
G. Proklova ◽  
R. Chilova ◽  
E. Sokova ◽  
R. Kazakov ◽  
E. Zhukova ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document