Publications by authors named "A Tenesa"
Article Synopsis
- The study analyzes how different familial structures influence the heritability and prediction accuracy of Type 2 Diabetes (T2D) using data from 11,818 individuals, including genetic information and family pedigrees.
- It identifies three familial structure scenarios to determine their impact on estimating heritability, highlighting that including families with various disease statuses leads to more accurate results.
- The research reveals that while familial structures enhance heritability estimations, omitting certain families can improve disease risk prediction and strengthen correlations with Polygenic Risk Scores.
Article Synopsis
- - Lynch syndrome (LS) is a genetic condition that increases the risk of certain cancers due to defects in DNA mismatch repair genes, and cancer risk estimates based on family history may be biased.
- - A study involving 830 MMR gene variant carriers from the UK Biobank found significantly higher cumulative incidences of colorectal and endometrial cancers by age 70 compared to non-carriers, but no significant difference for breast cancer.
- - The findings suggest that individuals with pathogenic variants in MMR genes should receive surveillance for colorectal cancer and interventions for endometrial cancer risk, while breast cancer does not appear to be linked to LS.
Aims: Association between whole blood viscosity (WBV) and an increased risk of cardiovascular disease (CVD) has been reported. However, the causal relationship between WBV and CVD remains not thoroughly investigated. The aim of this study was to investigate the causal relation between WBV and CVD.
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- The FarmGTEx project aims to create a public database of genetic variants in livestock to connect genetic differences with physical traits, benefiting both animal breeding and human health research.
- The pilot phase, PigGTEx, involved analyzing 5,457 RNA-sequencing and 1,602 whole-genome sequencing samples from pigs, leading to the development of a genotype imputation panel and associations between millions of genetic variants and transcriptomic traits across 34 different tissues.
- The study highlights the tissue-specific regulatory effects of these variants, revealing molecular mechanisms affecting 207 complex pig traits while also demonstrating the relevance of pigs as models for understanding human gene expression and genetic regulation.
Article Synopsis
- Many QTLs are found in non-coding regions and are believed to influence gene regulation, impacting gene expression and RNA splicing.
- A study examined the contributions of eVariants (which affect gene expression) and sVariants (which influence RNA splicing) from 16 tissues in ~120,000 cattle, showing they explain 69.2% of heritability for various traits.
- The research highlights that these regulatory variants substantially affect phenotypes, with eVariants and sVariants particularly explaining 24% of heritability, which is notably higher than expected from random variants.