Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed

Genetic studies on telomere length are important for understanding age-related diseases. Prior GWASs for leukocyte TL have been limited to European and Asian populations. Here, we report the first sequencing-based association study for TL across ancestrally diverse individuals (European, African, Asian, and Hispanic/Latino) from the NHLBI Trans-Omics for Precision Medicine (TOPMed) program. We used whole-genome sequencing (WGS) of whole blood for variant genotype calling and the bioinformatic estimation of telomere length in n = 109,122 individuals. We identified 59 sentinel variants (p < 5 × 10−9) in 36 loci associated with telomere length, including 20 newly associated loci (13 were replicated in external datasets). There was little evidence of effect size heterogeneity across populations. Fine-mapping at OBFC1 indicated that the independent signals colocalized with cell-type-specific eQTLs for OBFC1 (STN1). Using a multi-variant gene-based approach, we identified two genes newly implicated in telomere length, DCLRE1B (SNM1B) and PARN. In PheWAS, we demonstrated that our TL polygenic trait scores (PTSs) were associated with an increased risk of cancer-related phenotypes

Health among 6-year-old children in a Swedish county: Based on the health Dialogue.

Abstract Aim: To explore the experiences of self-reported health (SRH) of 6-year-old boys and girls. Background: The goals for the Swedish School Health Services (SHS) are to identify health problems, take measures to prevent illness, and promote health. One approach used to achieve this is the use of the Health Dialogue (HD) questionnaire. The HD is offered at three occasions during compulsory school and once in high school; it follows the child’s development and growth from 6 to 16 years old. Methods: The HD is a structured questionnaire consisting of 15 questions related to health, each phrased in a positive manner. The HD represents a cross-sectional image of the child’s SRH according to the child and parents. The SRH in this study is based on the results from the 5259 HD questionnaires conducted during 20062009 with 6-year-old children and parents. OR were analyzed for the HD. Results: Experiencing comfortableness in preschool, good sleep, absence of severe headaches, being physical active/play every day, and not being a victim for bullying shows to be important preschool indicators for boys and girls. Discussion: The most important health variable tagging in the preschool children’s positive SRH was comfortableness in preschool. Both boys and girls need to feel comfortable in preschool to report a positive SRH in school. The girls seem to be more dependent on comfortableness, being physical active, and not being bullied while the boys need to have lunch in school every day and not to show symptoms like severe headaches. Conclusion: The most important health variable tagging the preschool children’s SRH is comfortableness in school. The HD can increase the knowledge of 6-year-old children’s SRH and also be a tool to gain further insight into children’s health by highlighting patterns in children’s SR