Publications by authors named "E Sliz"
Given that lumbar disc herniation (LDH) is a prevalent spinal condition that causes significant individual suffering and societal costs, the genetic basis of LDH has received relatively little research. Our aim is to increase understanding of the genetic factors influencing LDH. We perform a genome-wide association analysis (GWAS) of LDH in the FinnGen project and in Estonian and UK biobanks, followed by a genome-wide meta-analysis to combine the results.
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- - White matter hyperintensities indicate damage in the brain's white matter, which can lead to brain shrinkage and is linked to dementia; a study of over 51,000 people found that larger volumes of these hyperintensities correspond to thinner brain cortex.
- - Researchers identified 20 significant genetic loci related to white matter hyperintensities that affect genes involved in brain cell types known to support vascular health and neuronal function; some of these genes play roles in processes like axonal structure and transport within the brain.
- - The genetic traits tied to white matter issues were linked to cardiovascular health, neurodegeneration markers, and poorer cognitive performance, with a polygenic risk score effectively predicting dementia risk in a separate large
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- Respiratory infections are a major global health issue, but the genetic factors influencing them are not well understood, leading to this study that aimed to investigate genetic determinants through genome-wide association studies (GWAS).
- The research analyzed data from 19,459 patients with respiratory infections and 101,438 controls in Stage 1, discovering 56 significant genetic signals, including one strong signal related to a gene important for immune response, but the follow-up Stage 2 study did not replicate these findings.
- Possible reasons for the lack of replication include variations in how the studies were conducted and differences in patient populations, but the research suggests a novel gene may be linked to susceptibility to respiratory infections, warranting further investigation.
To evaluate the genetics of chronic nonsuppurative otitis media (OM). We performed a genome-wide association study of 429,599 individuals included in the FinnGen study using three different case definitions: combined chronic nonsuppurative OM (7034 cases) (included serous and mucous chronic OM), mucous chronic OM (5953 cases), and secretory chronic OM (1689 cases). Individuals without otitis media were used as controls (417,745 controls).
View Article and Find Full Text PDFNovel Genetic Variants Associated with Primary Myocardial Fibrosis in Sudden Cardiac Death Victims.
J Cardiovasc Transl Res
December 2024
Myocardial fibrosis is a common finding in victims of sudden cardiac death (SCD). Whole exome sequencing was performed in 127 victims of SCD with primary myocardial fibrosis as the only pathological finding. These cases are derived from the Fingesture study which has collected data from autopsy-verified SCD victims in Northern Finland.
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