| 1. |
- Locke, Adam E, et al.
(author)
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Genetic studies of body mass index yield new insights for obesity biology.
- 2015
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In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 518:7538, s. 197-401
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Journal article (peer-reviewed)abstract
- Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10(-8)), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ∼2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.
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| 2. |
- Shungin, Dmitry, et al.
(author)
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New genetic loci link adipose and insulin biology to body fat distribution.
- 2015
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In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 518:7538, s. 187-378
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Journal article (peer-reviewed)abstract
- Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.
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| 3. |
- Wennergren, Mattias, 1993, et al.
(author)
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Swedish Child Health Services Register: a quality register for child health services and children's well-being.
- 2023
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In: BMJ paediatrics open. - : BMJ. - 2399-9772. ; 7:1
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Journal article (peer-reviewed)abstract
- Swedish child health services (CHS) is a free-of-charge healthcare system that reaches almost all children under the age of 6. The aim for the CHS is to improve children's physical, psychological and social health by promoting health and development, preventing illness and detecting emerging problems early in the child's life. The services are defined in a national programme divided into three parts: universal interventions, targeted interventions and indicated interventions.The Swedish Child Health Services Register (BHVQ) is a national Quality Register developed in 2013. The register extracts data from the child's health record and automatically presents current data in real time. At present, the register includes 21 variables.We aim to describe data available in the BHVQ and the completeness of data in BHVQ across variables.Child-specific data were exported from the register, and data for children born in the regions were retrieved from Statistics Sweden to calculate coverage.The register includes over 110000 children born between 2011 and 2022 from 221 child healthcare centres in eight of Sweden's 21 regions. In seven of the eight regions, 100% of centres report data.The completeness of data differs between participating regions and birth cohorts. The average coverage for children born in 2021 is 71%.The BHVQ is a valuable resource for evaluating Child Health Services nationally, with high coverage for the youngest children. As a result of continuous improvement of the services, the possibility to follow the development of children's health in Sweden is possible through the register. When fully expanded, the register will be a natural and essential part of developing preventive services, improving healthcare for children below 6years of age and a tool for developing evidence-based child health interventions.
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