Friday, 1 October 2021. News briefs from the Nordic Society of Human Genetics and Precision Medicine.
In the September NSHG-PM webinar, we heard about Norway’s famed Norwegian Mother, Father and Child Cohort Study (MoBa). “The most important discoveries lie ahead of us,” Camilla Stoltenberg of the Norwegian Institute of Public Health told us. Her colleague Alexandra Havdahl followed up with a deep dive on using MoBa genetic data to understand influences on children's neurological development. Watch the archived webinar.
Nature Genetics: Bigger Sample Size Yields More Risk Genes
In more than 90,000 cases and one million controls, an international team with a strong Nordic component found 38 risk loci for late-onset Alzheimer’s disease (AD), including seven new ones. The variants implicate microglia, immune cells, and protein breakdown.
The analyzed samples of people of European ancestry diagnosed with AD or with a family history of the disease from 13 cohorts, including Finland, Iceland, Norway, and Sweden. This study is part of the international Psychiatric Genomics Consortium-Alzheimer’s Workgroup, and was led by Danielle Posthuma from Vrije Universiteit Amsterdam and Ole Andreassen from University of Oslo.
The findings are summarized and discussed in more detail in an .
Nature Genetics: Two Independent Fine-Mapping Analyses
After genome-wide association studies (GWAS) find variations linked to traits and disease, it takes other statistical tools, such as gene expression and splicing quantitative trait loci (eQTLs), to fine-map those variations to specific changes in the biology and identify potential target genes for therapy. Two independent international teams led by Estonia researchers have a pair of new fine-mapping analyses.
In one , researchers report the methods they used to create the eQTL Catalogue, the largest compendium of uniformly processed eQTL summary statistics and fine-mapping results. The database has a search engine for entering the coordinates of a genetic variant and finding a list of genes regulated by that variant. The collaboration with UK researchers started as a way to work around data-sharing restrictions, according to blog posts with co-first author and co-senior author at University of Tartu. Now, the team is looking for collaborators who would like to contribute their datasets in a federated manner. Kerimov offers a .
Most genetic variants associated with traits and diseases work through regulatory mechanisms. The other analyzes genomic data from the blood samples of more than 30,000 people to identify thousands of new regulatory regions that seem to influence a smaller core group of disease-linked genes. The findings are a step toward precision medicine, reads a from Australian collaborators. The is now available to researchers worldwide.
Stay up-to-date on all Nordic Research
The NSHG-PM generates and curates a biweekly list of papers from members of the community and other Nordic researchers in human genetics and precision medicine.
Join the who’s who of Nordic human genetics and precision medicine at the upcoming meeting and workshop.
Monday, 8 October 2021: for (8-9 November 2021).
Friday, 8 October 2021: for (4 November 2021).
FEATURED JOBS AND TRAINING OPPORTUNITIES
Interested in finding out how mental health is affected by Covid-19 using data (incl PRS and medical records) from the internationally renowned #MoBa study? Come do a PhD with our friendly team at the Norwegian— Helga Ask (@helga_ask) September 13, 2021
Institute of Public Health. Please retweet! https://t.co/yMf2T7Pmxs pic.twitter.com/26Qaw1p3An
We are hiring! PhD position in psychiatric and social epidemiology in beautiful Aarhus (??) joining our team @dceaarhus and colleagues @John_J_McGrath @julie_dreier @ToftSorensen. Grateful to @DFF_raad for financial support! #epitwitter Please RT ?https://t.co/eFUP4FnyKK pic.twitter.com/VMjexVKBwL— Oleguer Plana-Ripoll (@oleguerplana) September 16, 2021
WHAT WE’RE READING
1. (Science magazine)
2. (PLOS Medicine)
3. (Curie, a magazine from the Swedish Research Council)
4. (European Society of Human Genetics)
5. (US Centers for Disease Control and Prevention)
Thanks for reading. This news and events roundup was written by Carol Cruzan Morton.
The Nordic Society of Human Genetics and Precision Medicine brings together scientists with stakeholders in the Nordic region to accelerate large-scale research combining molecular, registry, and other data to understand, prevent, and treat common complex diseases.