Back pain is the #1 cause of years lived with disability worldwide, yet surprisingly little is known regarding the biology underlying this symptom. We conducted a genome-wide association study (GWAS) meta-analysis of chronic back pain (CBP). Adults of European ancestry were included from 15 cohorts in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium, and from the UK Biobank interim data release. CBP cases were defined as those reporting back pain present for ≥3–6 months; non-cases were included as comparisons (“controls”). Each cohort conducted genotyping using commercially available arrays followed by imputation. GWAS used logistic regression models with additive genetic effects, adjusting for age, sex, study-specific covariates, and population substructure. The threshold for genome-wide significance in the fixed-effect inverse-variance weighted meta-analysis was p<5×10⁻⁸. Suggestive (p<5×10⁻⁷) and genome-wide significant (p<5×10⁻⁸) variants were carried forward for replication or further investigation in the remaining UK Biobank participants not included in the discovery sample. The discovery sample comprised 158,025 individuals, including 29,531 CBP cases. A genome-wide significant association was found for the intronic variant rs12310519 in SOX5 (OR 1.08, p = 7.2×10⁻¹⁰). This was subsequently replicated in 283,752 UK Biobank participants not included in the discovery sample, including 50,915 cases (OR 1.06, p = 5.3×10⁻¹¹), and exceeded genome-wide significance in joint meta-analysis (OR 1.07, p = 4.5×10⁻¹⁹). We found suggestive associations at three other loci in the discovery sample, two of which exceeded genome-wide significance in joint meta-analysis: an intergenic variant, rs7833174, located between CCDC26 and GSDMC (OR 1.05, p = 4.4×10⁻¹³), and an intronic variant, rs4384683, in DCC (OR 0.97, p = 2.4×10⁻¹⁰). In this first reported meta-analysis of GWAS for CBP, we identified and replicated a genetic locus associated with CBP (SOX5). We also identified 2 other loci that reached genome-wide significance in a 2-stage joint meta-analysis (CCDC26/GSDMC and DCC). Back pain is the #1 cause of years lived with disability worldwide and one of the most common reasons for health care visits in developed countries, yet surprisingly little is known regarding the biology underlying this symptom. Chronic back pain is the major driver of the societal burden of back pain. Identifying biological pathways involved in chronic back pain through genetic association studies might reveal insights into the underlying mechanisms involved or suggest potential avenues for the development of new treatments. We conducted the first genome-wide association study meta-analysis to examine genetic variants associated with chronic back pain. We identified variants associated with chronic back pain in 158,025 individuals of European ancestry from 16 cohorts in Europe and North America, and replicated our findings in 283,752 UK Biobank participants of European ancestry not included in the discovery sample. Our study identifies three novel genome-wide significant associations with chronic back pain, and suggests possible shared genetic mechanisms with other traits such as cartilage, osteoarthritis, lumbar disc degeneration, depression, and height/vertebral development.

Host genetic factors have frequently been implicated in respiratory infectious diseases, often with inconsistent results in replication studies. We identified 386 studies from the total of 24,823 studies identified in a systematic search of four bibliographic databases. We performed meta-analyses of studies on tuberculosis, influenza, respiratory syncytial virus, SARS-Coronavirus and pneumonia. One single-nucleotide polymorphism from IL4 gene was significant for pooled respiratory infections (rs2070874; 1.66 [1.29–2.14]). We also detected an association of TLR2 gene with tuberculosis (rs5743708; 3.19 [2.03–5.02]). Subset analyses identified CCL2 as an additional risk factor for tuberculosis (rs1024611; OR = 0.79 [0.72–0.88]). The IL4-TLR2-CCL2 axis could be a highly interesting target for translation towards clinical use. However, this conclusion is based on low credibility of evidence - almost 95% of all identified studies had strong risk of bias or confounding. Future studies must build upon larger-scale collaborations, but also strictly adhere to the highest evidence-based principles in study design, in order to reduce research waste and provide clinically translatable evidence.

To assess the adherence to the Mediterranean diet in the population of Dalmatia in southern Croatia.A cross-sectional study was performed within the 10 001 Dalmatians cohort, encompassing 2768 participants from Korčula and Vis islands ...

We conducted a genome-wide association study on income among individuals of European descent (N = 668,288) to investigate the relationship between socio-economic status and health disparities. We identified 162 genomic loci associated with a common genetic factor underlying various income measures, all with small effect sizes (the Income Factor). Our polygenic index captures 1–5% of income variance, with only one fourth due to direct genetic effects. A phenome-wide association study using this index showed reduced risks for diseases including hypertension, obesity, type 2 diabetes, depression, asthma and back pain. The Income Factor had a substantial genetic correlation (0.92, s.e. = 0.006) with educational attainment. Accounting for the genetic overlap of educational attainment with income revealed that the remaining genetic signal was linked to better mental health but reduced physical health and increased risky behaviours such as drinking and smoking. These findings highlight the complex genetic influences on income and health.

Nuts are often considered beneficial for health, yet few studies have examined determinants of their intake and the associations between nut consumption and various cardiovascular disease risk factors. The aim of this study was to identify factors associated with nut intake in a Mediterranean population, in Croatia, and to investigate the association of nut intake and various cardiovascular risk factors. Methods: Subjects from the Island of Vis, Island of Korčula and the City of Split were included in this cross-sectional study (n = 4416 in total; 4011 without known cardiovascular disease). Survey responses, medical records and clinically relevant measurements were utilized. Multivariate ordinal and logistic regression models were used in the analysis, adjusting for known confounding factors. Results: As low as 5% of all subjects reported daily, and 11% reported weekly, nut consumption. The characteristics associated with more frequent nut intake were female gender (Odds ratio (OR) = 1.39; 95% confidence interval (CI) 1.19–1.62), highest level of education (1.42; 1.15–1.76) and material status (1.58; 1.29–1.93), smoking abstinence (1.21; 1.04–1.42 in never-smokers and 1.22; 1.02–1.46 in ex-smokers), Mediterranean diet adherence (1.87; 1.62–2.15), and absence of central obesity (1.29; 1.09–1.53), absence of diabetes (1.30; 1.02–1.66) and metabolic syndrome (1.17; 1.01–1.36). Subjects who consumed nuts had more favorable waist-to-height (overall p = 0.036) and waist-to-hip ratios (0.033), lesser odds of elevated fibrinogen (p < 0.001 in both weekly and monthly nut consumers) and reduced high-density lipoprotein (HDL) cholesterol (p = 0.026), compared to non-consumers. Conclusions: It appears that frequent nut consumption is an integral part of a healthy lifestyle and better socioeconomic status. A beneficial association of nut intake with cardiovascular risk factors was confirmed in this study.