Genomics and the circulation

Podgoreanu, Mihai V.; Schwinn, Debra A.

doi:10.1093/bja/aeh168

Cited by 12 publications

(9 citation statements)

References 116 publications

(33 reference statements)

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“…The technical limitations include the limited number of transcripts on available chips, the possibility of falsepositives (emphasizing the need for confirmation of results with an independent approach such as real-time polymerase chain reaction), and the challenge of isolating cell types from heterogeneous cell populations in tissues. 174,205 The availability of techniques such as laser capture microdissection has facilitated the isolation of cell populations, however. 206 The conceptual challenges lie in the fact that there may be a poor correlation between mRNA expression and the proteome (because all transcripts may not be translated) and with protein function (due to inability to detect alternate splicing, posttranslational modification, subcellular localization, and interactions among proteins that can influence function).…”

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confidence: 99%

“…207 Additional gain-or loss-of-function studies are necessary for mechanistic interpretations. 174,205 Proteomics Proteomic approaches to the identification of disease biomarkers rely principally on the comparative analysis of protein expression in normal and disease tissues to identify aberrantly expressed proteins that may represent new biomarkers, analysis of secreted proteins (in cell lines and primary cultures), and direct serum protein profiling. Proteomics methodologies include assessment of protein expression (by Western blotting and enzyme-linked immunosorbent assay and by other antibody-based methods) and the isolation, identification, and quantification of proteins in biosamples with high-resolution 2-dimensional gel electrophoresis, high-performance liquid chromatography, surface chromatography by adsorbion of proteins to activated surfaces (matrix-assisted laser desorption-ionization technology), or via peptide ionization procedures and mass spectroscopy.…”

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confidence: 99%

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Biomarkers of Cardiovascular Disease

2006

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confidence: 99%

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Biomarkers of Cardiovascular Disease

2006

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“…A great number of reviews on the results of this field have been published [17][18][19] . The Framingham Heart Study (FHS), which started in 1948, has identified 251 SNP sites related to cardiovascular phenotype in white people and has set up a scanning database involving 116 000 SNP sites [20] .…”

Section: Discussionmentioning

confidence: 99%

Association between SNP rs10569304 on the second expressed region of hole gene and the congenital heart disease

Zhang

Lin

Qiu

et al. 2010

J. Huazhong Univ. Sci. Technol. [Med. Sci.]

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The correlation of single nucleotide polymorphism (SNP) rs10569304 on the second expressed region of hole gene and congenital heart disease (CHD) of human being, and the effect of hole gene on CHD were investigated. 179 patients with CHD as CHD group and 183 healthy people as control group were selected in the case-control study. DNA was abstracted from the peripheral blood by phenol-chloroform method. Primer was designed for the flanking sequence of SNP rs10569304 on the second expressed region of hole gene. The genotype was identified by PCR degenerative acrylamide electrophoresis with amplification products. Then the three amplification products received sequencing. By chi-square test, the genotype frequency and allele frequency in CHD group and control group were analyzed. There was insertion-deletion (GCC/-) of SNP rs10569304 which corresponded to alleles of A and B in Southern Chinese people. The genotype frequency and allele frequency in control group and CHD group were met the Hardy-Weinberg equilibrium. By chi-square test, in control group and CHD group, the genotype frequency of AA (insertion homozygous), AB (insertion-deletion heterozygous) and BB (deletion homozygous) was 21.31%, 54.09%, 24.59% and 16.75%, 46.36%, 36.87%, respectively. The distributional difference of genotype frequency had statistical significance (chi2=6.51, P<0.05); The allele frequency of A and B was 48.36% and 51.64% in control group, 39.94% and 60.06% in CHD group, respectively. The distributional difference of allele frequency had statistical significance (chi2=5.20, P<0.05). Meanwhile, by contrast with the control group, the BB genotype frequency and B allele frequency in CHD group was higher, but the AA and AB frequency was lower. There was higher risk to suffer from CHD involving B allele. BB genotype had 1.907-fold increased risk of developing CHD according to AA genotype (P<0.05). It is concluded that there is insertion-deletion (GCC/-) of SNP rs10569304 in the Southern Chinese people, and the people whose hole gene involving BB genotype have higher risk to suffering from CHD.

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“…These studies should ideally focus on mechanistic pathways with carefully defined clinical endpoints and include all appropriate clinical covariates in order to optimize reproducibility of the final results. End-points examined thus far include bleeding, renal injury, stroke, neurocognitive deficits, myocardial injury, sepsis, and arrhythmias [3,58,61,63,69,[79][80][81]; analysis typically includes creation of clinical models, genetic models, and combined clinical/genetic models for these adverse outcomes, with careful adjustment for multiple comparisons. A recent invited review [2] introduced the concept of perioperative genomics to the broader cardiovascular community.…”

Section: Genetics and Adverse Perioperative Outcomesmentioning

confidence: 99%

Pharmacogenomics and end-organ susceptibility to injury in the perioperative period

Schwinn

Podgoreanu

2008

Best Practice & Research Clinical Anaesthesiology

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Genomic medicine has provided new mechanistic understanding for many complex diseases over the last 5-10 years. More recently genomic approaches have been applied to the perioperative paradigm, facilitating identification of patients at high risk for adverse events, as well as those who will respond better/worse to specific pharmacologic therapies. The consistent biological theme emerging is that while inflammation is important in healing from surgical trauma, patients who are too robustly proinflammatory appear to be at higher risk for adverse perioperative events. Precise predictors of each adverse event are being elucidated so that corrective therapeutics can be instituted to improve outcomes in high-risk patients. While the field of perioperative genomics could be considered in its infancy, such approaches are the wave of the future.

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Genomics and the circulation

Cited by 12 publications

References 116 publications

Biomarkers of Cardiovascular Disease

Biomarkers of Cardiovascular Disease

Association between SNP rs10569304 on the second expressed region of hole gene and the congenital heart disease

Pharmacogenomics and end-organ susceptibility to injury in the perioperative period

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