DNA polymorphisms in the tyrosin hydroxylase and GNB3 genes: association with unexpected death from acute myocardial infarction and increased heart weight

Klintschar, Michael; Stiller, D; Schwaiger, Patrizia; Kleiber, M.

doi:10.1016/j.forsciint.2004.09.103

Cited by 19 publications

(10 citation statements)

References 27 publications

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“…All of these characteristics highlight the importance of studying STRs which have been associated with phenotypic consequences, cell surface variability, plasticity in skeletal morphology, and even drug susceptibility which could be related to other diseases [19]. Other reports provide compelling evidence that some CODIS markers (TH01, vWA, TPOX, and D21S11) could be associated with coronary heart disease, myocardial infarction, and increased heart weight, which is concordant with our findings [48, 55, 56]. Although STRs are good candidate markers that may contribute to understanding the origins of cardiovascular diseases, the combined effect of more genetic variants is more useful and notably contributes to finding biomarkers in complex diseases.…”

Section: Discussionsupporting

confidence: 92%

Association of vWA and TPOX Polymorphisms with Venous Thrombosis in Mexican Mestizos

Meraz-Ríos

Majluf‐Cruz

Santana

et al. 2014

BioMed Research International

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Objective. Venous thromboembolism (VTE) is a multifactorial disorder and, worldwide, the most important cause of morbidity and mortality. Genetic factors play a critical role in its aetiology. Microsatellites are the most important source of human genetic variation having more phenotypic effect than many single nucleotide polymorphisms. Hence, we evaluate a possible relationship between VTE and the genetic variants in von Willebrand factor, human alpha fibrinogen, and human thyroid peroxidase microsatellites to identify possible diagnostic markers. Methods. Genotypes were obtained from 177 patients with VTE and 531 nonrelated individuals using validated genotyping methods. The allelic frequencies were compared; Bayesian methods were used to correct population stratification to avoid spurious associations. Results. The vWA-18, TPOX-9, and TPOX-12 alleles were significantly associated with VTE. Moreover, subjects bearing the combination vWA-18/TPOX-12 loci exhibited doubled risk for VTE (95% CI = 1.02–3.64), whereas the combination vWA-18/TPOX-9 showed an OR = 10 (95% CI = 4.93–21.49). Conclusions. The vWA and TPOX microsatellites are good candidate biomarkers in venous thromboembolism diseases and could help to elucidate their origins. Additionally, these polymorphisms could become useful markers for genetic studies of VTE in the Mexican population; however, further studies should be done owing that this data only show preliminary evidence.

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Section: Discussionsupporting

confidence: 92%

Association of vWA and TPOX Polymorphisms with Venous Thrombosis in Mexican Mestizos

Meraz-Ríos

Majluf‐Cruz

Santana

et al. 2014

BioMed Research International

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“…Changes in G-proteins could lead to disease by blocking or enhancing intracellular signal transduction [34]. The common polymorphism C825T in GNβ3 has been reported to be associated with a number of disorders, including obesity [35, 36], hypertension [29, 37, 38], coronary heart disease [39], stroke [40], insulin resistance [41] and depression [42]. …”

Section: Discussionmentioning

confidence: 99%

Association of Genetic Variants in GNβ3 with Functional Dyspepsia: A Meta-Analysis

et al. 2014

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Background Functional dyspepsia (FD) is a functional upper gastrointestinal disorder. The etiology and pathogenesis of FD remain unclear, with genetic factors playing an important role. Previous studies investigated the association of C825T in GNβ3 with FD, with conflicting results reported. Aims The aim of this meta-analysis is to assess the association of genetic variants in GNβ3 with FD. Methods We performed a systematic literature search in PubMed, Cochrane Library, Google Scholar and Web of Knowledge, and conducted a meta-analysis to assess the association of C825T in GNβ3 with FD. For sensitivity analysis, we analyzed the association between C825T and subtypes of FD. We also performed meta-analysis separately for individual ethnic groups/countries of origin. Results A total of 8 studies met the eligibility criteria and were included in our analyses. Our meta-analysis finds no association between 825CC and FD (OR=1.19, 95% CI: 0.84–1.67, p=0.328). The association, however, is significant under an additive model (OR=0.59, 95% CI: 0.38–0.92, p=0.018). Sensitivity analysis indicated a significant association of C825T with FD in participants from Korea but not in those from Japan, Europe, or the United States. We also detected a significant association of this SNP with dysmotility. Conclusions The genetic variant C825T in GNβ3 is significantly associated with FD under an additive model and the association is race specific. Further studies with larger samples sizes are needed to validate our findings and explore the potential mechanism underlying the association.

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“…Some authors have reported that the C825T polymorphism shows an increased risk to develop obesity [16], hypertension [17], coronary heart diseases [18], stroke [19], and depression [20]. Concerning the effect of GNB3 protein C825T polymorphism on functional gastrointestinal disorders, two recent studies produced different results; one confirmed that homozygous GNB3 protein 825C was associated with upper abdominal symptoms unrelated to meals in Germany [21], while another showed that the homozygous GNB3 protein 825T was also associated with meal-unrelated dyspepsia in people randomly selected from the US community [22].…”

Section: Introductionmentioning

confidence: 99%

Homozygous 825T Allele of the GNB3 Protein Influences the Susceptibility of Japanese to Dyspepsia

et al. 2007

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The role of genetics in the susceptibility to functional dyspepsia (FD) is not well established. Recently, two different associations were reported between FD and G-protein beta3 (GNB3) subunit gene polymorphism. We aim to clarify the association between GNB3 protein C825T polymorphism and dyspepsia in the Japanese population. Eight-nine dyspeptics and 94 nondyspeptic subjects enrolled in this study. All subjects underwent gastroscopy and patients with significant upper gastrointestinal findings were excluded. Other diseases were also excluded by face-to-face history and physical examination. GNB3 protein C825T polymorphisms were determined by polymerase chain reaction-restriction fragment-length polymorphism. H. pylori infection status was examined by histology or antibody against H. pylori. Nonsignificant correlation was found between GNB3 protein homozygous 825T and unexplained dyspepsia (OR = 1.65, 95% CI: 0.87-3.13). However, among H. pylori-negative subjects, homozygous GNB3 protein 825T significantly increased the risk of dyspepsia (16.7% versus 40.5%; CC versus TT; OR = 5.10, 95% CI: 1.21-21.43, CC versus others; OR = 3.40, 95% CI: 1.16-9.93, respectively). This significant association remained after logistic regression analysis with adjustment for sex and age (CC versus TT; OR = 5.73, 95% CI: 1.27-25.82, CC versus others; OR = 3.08, 95% CI: 1.02-9.25). No significant correlation was found between GNB3 polymorphism and any dyspeptic symptoms. Our data suggest that the homozygous 825T allele of GNB3 protein is associated with dyspepsia in the H. pylori-negative Japanese population. The role of genetics in the development of dyspepsia needs further evaluation.

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DNA polymorphisms in the tyrosin hydroxylase and GNB3 genes: association with unexpected death from acute myocardial infarction and increased heart weight

Cited by 19 publications

References 27 publications

Association of vWA and TPOX Polymorphisms with Venous Thrombosis in Mexican Mestizos

Association of vWA and TPOX Polymorphisms with Venous Thrombosis in Mexican Mestizos

Association of Genetic Variants in GNβ3 with Functional Dyspepsia: A Meta-Analysis

Homozygous 825T Allele of the GNB3 Protein Influences the Susceptibility of Japanese to Dyspepsia

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