The Gly389Arg beta-1 adrenoceptor polymorphism and cardiovascular disease: time for a rethink in the funding of genetic studies?

Autonomic Nervous System Pharmacogenomics: A Progress Report

“…In light of this, analyses for somatic cell variants in key pharmacologic targets may prove of interest (Erickson, 2003). Since it is sometimes difficult to estimate the exact effect of size a polymorphism will have on function, future studies will need to be appropriately powered to detect significant associations and linkage (Cardon et al, 2000;Jones and Montgomery, 2002). Approaches that use "natural" genetic cohorts, such as large pedigrees and twins, may prove useful to help define contributions of particular variants, but to date, very few studies have used such populations to assess ANS receptor signaling components.…”

“…Left ventricular mass, an important cardiovascular risk factor, was (Michel and Insel, 2003), inconclusive results have been obtained regarding the physiological relevance of the ␤ 1 -AR polymorphisms. Further work is necessary to define the exact nature of the relationship between the in vitro and in vivo results and the role these ␤ 1 -AR polymorphisms, perhaps as haplotypes, play in disease and drug response (Table 6) (Hein, 2001;Jones and Montgomery, 2002;Johnson et al, 2003;Michel and Insel, 2003).…”

Polymorphisms ofβ1-Adrenoreceptor Gene and Cardiovascular Complications in Patients with Thyrotoxicosis

“…However, the evaluation of ADRB1 polymorphisms in cardiovascular diseases such as ischemic heart disease and arterial hypertension gave only modest results. In several studies, a link between the Arg389Gly polymorphism and resting heart rate (HR) and diastolic arterial pressure was reported, while in other studies only a slight correlation with the left ventricular hypertrophy was noted [10, 11]. Studies in vitro showed that Ser49Ser homozygous subjects have lower functional activity of adenylate cyclase compared to Gly49Gly homozygous subjects, but higher sensitivity to stimulation by isoproterenol [12].…”

The Contribution of the Common Single-nucleotide Polymorphisms of β1-Adrenoreceptor Gene to Cardiovascular Alteration in Patients with Thyrotoxicosis

“…Между тем оценка его влияния на течение различных ССЗ (ишемической болезни сердца, гипертонической болезни) дала го раздо более скромные результаты. Достоверно были подтверждены лишь различия в ЧСС и уровне диа столического АД у носителей различных генотипов [10,11], в других же исследованиях было показано, что люди с генотипом Arg389Arg имели лишь недо стоверное увеличение риска развития гипертрофии левого желудочка (ГЛЖ) [12].…”