Contribution of the polymorphism rs1800469 of transforming growth factor β in the development of myocardial infarction: meta-analysis of 5460 cases and 8413 controls (MOOSE-compliant article)

Du, Ling; Gong, Tao; Yao, Mengfei; Henghua, Dai; Ren, Hong; Wang, Haitao

doi:10.1097/md.0000000000015946

Cited by 7 publications

(6 citation statements)

References 34 publications

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“…In the present study, the minor allele of TGFB1 rs1800469 was associated with an increased risk of incident coronary events (HR = 1.30; CI 95% 1.02-1.65; p 0.04), supporting findings from a recent meta-analysis that evaluated associations between rs1800496 and myocardial infarction (MI), identifying significant associations between homozygous and heterozygous minor allele genotypes and increased MI risk, compared to major allele homozygotes [58]. In contrast, a smaller NI case-control study comprising 563 cases and 629 controls, found no association between rs1800496 and MI [24].…”

Section: Plos Onesupporting

confidence: 87%

Association of TGFB1 rs1800469 and BCMO1 rs6564851 with coronary heart disease and IL1B rs16944 with all-cause mortality in men from the Northern Ireland PRIME study

Mooney

Linden²,

Winning³

et al. 2022

PLoS ONE

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Background Historically, high levels of morbidity and mortality have been associated with cardiovascular disease in the Northern Ireland population. Previously reported associations between single nucleotide polymorphisms (SNPs) and cardiovascular disease within other populations have not always been consistent. Objective To investigate associations between 33 SNPs with fatal or non-fatal incident coronary heart disease (CHD) events and all-cause mortality in the Northern Irish participants of the Prospective Epidemiological Study of Myocardial Infarction (PRIME). Method Phase 2 of the PRIME study prospectively evaluated 2,010 men aged 58–74 years in Northern Ireland for more than 10 years for incident CHD events (myocardial infarction, percutaneous coronary intervention, coronary artery bypass, and cardiac death) and more than 15 years for all-cause mortality. SNPs previously reported in association with cardiovascular outcomes were evaluated against incident CHD events and all-cause mortality using Cox’s proportional hazards models adjusted for established cardiovascular disease risk factors. Results During the follow-up period, 177 incident CHD events were recorded, and 821 men died. Both BCMO1 rs6564851 (Hazard ratio [HR] = 0.76; 95% confidence intervals [CI]: 0.60–0.96; P = 0.02) and TGFB1 rs1800469 (HR = 1.30; CI: 1.02–1.65; P = 0.04) were significantly associated with incident CHD events in adjusted models. Only IL1B rs16944 was significantly associated with all-cause mortality (HR = 1.18; CI: 1.05–1.33; P = 0.005). No associations remained significant following Bonferonni correction for multiple testing. Conclusion We report a novel association between BCMO1 rs6564851 and risk of incident CHD events. In addition, TGFB1 rs1800469 and IL1B rs16944 were associated with the risk of incident CHD events and all-cause mortality outcomes respectively, supporting previously reported associations.

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Section: Plos Onesupporting

confidence: 87%

Association of TGFB1 rs1800469 and BCMO1 rs6564851 with coronary heart disease and IL1B rs16944 with all-cause mortality in men from the Northern Ireland PRIME study

Mooney

Linden²,

Winning³

et al. 2022

PLoS ONE

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“…The -509C/T functional promoter polymorphism (rs1800469) within the TGFB1 gene has been extensively assessed in different genetic epidemiological studies. Moreover, a number of studies have attempted to investigate whether the polymorphic variants in TGFB1 change TGF β 1 expression [ 19 – 21 ]. Another genetic polymorphism widely explored in different conditions is rs4803455 involving a C-to-A transition, which is located in intron 2 of TGFB1 and was therefore selected in our study.…”

Section: Discussionmentioning

confidence: 99%

Transforming Growth Factor Beta Receptor 2 (TGFBR2) Promoter Region Polymorphisms May Be Involved in Mandibular Retrognathism

Kirschneck

Zbidat

Paddenberg

et al. 2022

BioMed Research International

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Skeletal malocclusions are common phenotypes in humans and have a strong influence on genetic factors. Transforming growth factor beta (TGFβ) controls numerous functions of the human body, including cell proliferation, differentiation, and migration. Thus, this study is aimed at evaluating whether genetic polymorphisms in TGFB1 and its receptor TGFBR2 are associated with mandibular retrognathism in German children and adolescents. Children and teenagers older than 8 years in the mixed or permanent dentition were included in this study. Patients with syndromes and facial trauma and patients with congenital alterations were excluded. Digital cephalometric tracings were performed using the anatomical landmarks point A, point B, sella (S), and nasion (N). Patients that have a retrognathic mandible ( SNB < 78 °) were selected as case group, and the patients with an orthognathic mandible ( SNB = 78 °– 82°) were selected as the control group. Genomic deoxyribonucleic acid (DNA) from saliva was used to evaluate four genetic polymorphisms in TGFB1 (rs1800469 and rs4803455) and TGBR2 (rs3087465 and rs764522) using real-time PCR. Chi-square or Fisher exact tests were used to compare gender, genotype, and allele distribution among groups. Genotype distribution was calculated in an additive and recessive model. Haplotype analysis was also performed. The established alpha of this study was 5%. A total of 146 patients (age ranging from 8 to 18 years) were included in this epidemiological genetic study. The genetic polymorphism rs3087465 in TGFBR2 was associated with mandibular retrognathism. Carrying the AA genotype in the rs3087465 polymorphism decreased the chance of having mandibular retrognathism ( odds ratio = 0.25 , confidence interval 95 % = 0.06 to 0.94, p = 0.045 ). None of the haplotypes was associated with mandibular retrognathism ( p > 0.05 ). In conclusion, we found that the genetic polymorphism rs3087465 in the promoter region of the TGFBR2 was associated with mandibular retrognathism in Germans.

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“…They combine the results of single-gene association studies, providing an excellent opportunity to observe the role of a single genetic variation in a more heterogeneous and larger population. Over the past 10-15 years, meta-analyses have looked at a wide range of conditions associated with heart disease, including CAD itself [23][24][25][26]. Unfortunately, meta-analyses, like GWAS, can be biased by population stratification, variability in control group selection, different study approaches, or different scales of biochemical values.…”

Section: Role Of Single-nucleotide Polymorphisms In Cadmentioning

confidence: 99%

Genetic Risk Factors Related to Coronary Artery Disease and Role of Transforming Growth Factor Beta 1 Polymorphisms

Malinowski

Bochniak

Luterek-Puszyńska

et al. 2023

Genes

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Coronary artery disease (CAD) is one of the leading causes of mortality globally and has long been known to be heritable; however, the specific genetic factors involved have yet to be identified. Recent advances have started to unravel the genetic architecture of this disease and set high expectations about the future use of novel susceptibility variants for its prevention, diagnosis, and treatment. In the past decade, there has been major progress in this area. New tools, like common variant association studies, genome-wide association studies, meta-analyses, and genetic risk scores, allow a better understanding of the genetic risk factors driving CAD. In recent years, researchers have conducted further studies that confirmed the role of numerous genetic factors in the development of CAD. These include genes that affect lipid and carbohydrate metabolism, regulate the function of the endothelium and vascular smooth muscles, influence the coagulation system, or affect the immune system. Many CAD-associated single-nucleotide polymorphisms have been identified, although many of their functions are largely unknown. The inflammatory process that occurs in the coronary vessels is very important in the development of CAD. One important mediator of inflammation is TGFβ1. TGFβ1 plays an important role in the processes leading to CAD, such as by stimulating macrophage and fibroblast chemotaxis, as well as increasing extracellular matrix synthesis. This review discusses the genetic risk factors related to the development of CAD, with a particular focus on polymorphisms of the transforming growth factor β (TGFβ) gene and its receptor.

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Contribution of the polymorphism rs1800469 of transforming growth factor β in the development of myocardial infarction: meta-analysis of 5460 cases and 8413 controls (MOOSE-compliant article)

Abstract: Supplemental Digital Content is available in the text

Cited by 7 publications

References 34 publications

Association of TGFB1 rs1800469 and BCMO1 rs6564851 with coronary heart disease and IL1B rs16944 with all-cause mortality in men from the Northern Ireland PRIME study

Association of TGFB1 rs1800469 and BCMO1 rs6564851 with coronary heart disease and IL1B rs16944 with all-cause mortality in men from the Northern Ireland PRIME study

Transforming Growth Factor Beta Receptor 2 (TGFBR2) Promoter Region Polymorphisms May Be Involved in Mandibular Retrognathism

Genetic Risk Factors Related to Coronary Artery Disease and Role of Transforming Growth Factor Beta 1 Polymorphisms

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