Recurrent episodes of bradykinin-mediated angioedema (Bk-AE) can associate with acquired or hereditary conditions, the former most commonly developing secondarily to a pharmacological treatment. Despite successful genomic advances that have led to the identification of a large number of disease genes irrespective of disease prevalence, their application to Bk-AE has barely occurred. As a consequence, the genetic causes of Bk-AE remain poorly understood, obstructing the identification of patient subtypes and the development of precision medicine strategies. This review provides an update of the genetic studies completed to date on the acquired forms, which have almost exclusively focused on Bk-AE secondarily to the angiotensin-converting enzyme inhibitor treatment, and the blooming subdivision of the hereditary forms established by the identification of novel causal genes with next-generation sequencing (NGS) technology-based exome studies in genetically undiagnosed patients. Finally, based on the diverse benefits that are offered by the technology, we present arguments favoring the use of holistic NGS approaches as first-tier genetic tests as a promise to reduce the diagnostic odyssey of patients with suspected hereditary forms of Bk-AE.

To analyse the association between serum C-peptide and coronary artery disease in the general population. Follow-up study of 6630 adults from the general population. They were stratified into group 1 (no insulin resistance: C-peptide < third tercile and glycaemia < 100 mg/dL), group 2 (initial insulin resistance: C-peptide ⩾ third tercile and glycaemia < 100 mg/dL) and group 3 (advanced insulin resistance: glycaemia ⩾ 100 mg/dL). After 3.5 years of follow-up, group 2 had a higher incidence of myocardial infarction (relative risk (RR) = 4.2, 95% confidence interval (CI) = 1.7–10.6) and coronary artery disease (RR = 3.5, 95% CI = 1.9–6.6) than group 1. Group 3 also had increased incidences of both diseases. In multivariable analysis of the entire population, groups 2 and 3 showed significant risks of myocardial infarction and coronary artery disease (RR > 3 and RR > 2, respectively). However, when people with diabetes were excluded, the increased risks were corroborated only in group 2 for myocardial infarction (RR = 2.8, 95% CI = 1.1–6.9; p = 0.025) and coronary artery disease (RR = 2.4, 95% CI = 1.3–4.6; p = 0.007). Elevated C-peptide is associated with the incidence of myocardial infarction and coronary artery disease in the general population. It can be an earlier predictor of coronary events than impaired fasting glucose.

Resistin is a cytokine related with inflammation and ischemic heart disease. Physical activity (PA) prevents chronic inflammation and ischemic heart disease. We studied the relationship of serum concentration of resistin with HDL cholesterol, a known biomarker of PA, and with different measures of PA, in a large sample of the general adult population in the Canary Islands. Cross-sectional study of 6636 adults recruited randomly. We analyzed the correlation of resistin and HDL cholesterol with PA (as metabolic equivalent level [MET]), and fitted the results with linear and logistic regression models using adjustment for age, alcohol consumption and smoking. Mean resistin level was higher in women (p<0.001), correlated inversely with age, HDL cholesterol (p<0.001) and alcohol consumption (p<0.001 in men), and correlated directly with smoking (p<0.001). Resistin correlated inversely with the duration of leisure time PA (p<0.001), leisure time MET (p<0.001) and moderate leisure time PA (p<0.001), with some differences between sexes. Men (OR = 0.78 [0.61–0.99; p<0.05]) and women (OR = 0.75 [0.61–0.92; p<0.01]) in the upper quintile of leisure time PA had a lower risk of elevated resistin. In contrast, a high degree of sedentarism was associated with an increased risk elevated resistin in women (OR = 1.24 [1.04–1.47; p<0.05] and in men (OR = 1.40 [1.01–1.82; p<0.05]). In our sample of the general population, resistin was inversely associated with measures and levels of PA and HDL cholesterol. The association of resistin with PA was stronger than the association of HDL cholesterol with PA, making resistin a potentially useful biomarker of PA.

Little is known on how the domain and intensity of physical activity (PA) associates with metabolic syndrome (MetS). The aim of this study was to examine associations between PA domains (leisure-time, domestic, active transport, total walking and total PA), PA intensities (light, moderate and vigorous) and PA levels with MetS in the general adult population. Cross-sectional study. Anthropometry, blood biochemistry, 79-item PA-questionnaire, lifestyle and medical history were evaluated in a representative sample of Canary Island adults (n = 6,729). MetS was diagnosed using the harmonized IDF-NHLBI-AHA criteria. T-test and multivariable logistic regression was used to analyse associations between PA domains and intensities with MetS vs. no MetS, controlling for socio-demographic, lifestyle, family antecedents and body mass index (BMI). For each MET-h/day spent in moderate-vigorous PA intensities, as well as in recreational domain, active transport, total walking and total PA, the odds of MetS decreased between 3–10%. Energy expenditure exclusively in light and domestic PAs was not associated with MetS, however it was important to achieve a total PA level of 3 MET-h/day, which reduced the odds of MetS by 23%. This reduction was blunted in those with more than 2 h/d of TV watching time. A PA level of 3 MET-h/d also nullified the risk of MetS in those with low PA and high TV consumption. Some types of leisure time PAs may contribute more than others to reducing MetS. Light and domestic PA play a complementary role in enhancing energy expenditure in the general population. TV watching time above 2 h/d counteracted the MetS risk reduction associated with PA level, but PA level also reduced the risk of METs presented by those with a low level of PA and an excess TV watching time. Physical activity explains a greater amount of the variance of MetS than any other factors of lifestyle, education, sex and family history, and substantially mitigates the strong association of age and BMI with MetS.

Admixed populations arise when two or more ancestral populations interbreed. As a result of this admixture, the genome of admixed populations is defined by tracts of variable size inherited from these parental groups and has particular genetic features that provide valuable information about their demographic history. Diverse methods can be used to derive the ancestry apportionment of admixed individuals, and such inferences can be leveraged for the discovery of genetic loci associated with diseases and traits, therefore having important biomedical implications. In this review article, we summarize the most common methods of global and local genetic ancestry estimation and discuss the use of admixture mapping studies in human diseases.