Publications by authors named "E V Maksiutenko"
Article Synopsis
- Over the past 20 years, genome-wide association studies (GWAS) have explored the genetic basis of complex human traits, but a comprehensive analysis of variant-level properties influencing the replication of these associations has been lacking in biobank studies.
- A comparison of GWAS summary statistics from the UK Biobank and FinnGen identified 37,148 index variants linked to complex traits, with only 9.5% of these variants being shared between the two cohorts; a significant number (9230 loci) did not replicate.
- The study found that non-replicated variants tend to be rarer and exhibit lower effect sizes, while variants identified only in meta-analysis were more common but still had low effects, underscoring the challenges
Article Synopsis
- Yeast have two critical translation termination factors, eRF1 and eRF3, whose mutations lead to the amplification of their mutant alleles, which is vital for cell survival.
- The study used RNA-Seq and proteome analysis to explore how yeast cells adapt to nonsense mutations and found significant gene expression changes affecting the cell cycle.
- The researchers suggest that the adaptation involves a delay in cell cycle progression, particularly at the G2-M transition, resulting in extended S and G2 phases that promote the replication of the mutant alleles.
Article Synopsis
- The study investigates how humans adapt to extreme environmental conditions, focusing on high altitude mountaineers facing low oxygen levels (hypoxia).
- Researchers analyzed the genetic makeup of 22 elite climbers and discovered two significant genetic variants associated with hypoxic adaptation, which may lead to respiratory issues.
- The findings suggest that certain genetic losses in function could play a crucial role in enabling adaptation to harsh conditions, aligning with previous research on human adaptation.
Int J Mol Sci
December 2023
Article Synopsis
- Pregnancy loss is a common and devastating complication during pregnancy, with genetic factors playing a significant role, yet over 30% of causes remain unexplained.
- This review synthesizes a decade's worth of research on genetic risk factors for pregnancy loss, identifying 270 genetic variants across 196 unique genes linked to the condition.
- The findings highlight that many of these genes are evolutionarily conserved and involved in essential developmental processes, providing a basis for predicting pregnancy loss risk and guiding future genetic studies.
Article Synopsis
- Significant advancements in collecting, storing, and analyzing biological samples have led to the establishment of large biobanks worldwide, some housing over a million samples alongside clinical data.
- Biobanks play a crucial role in medical genetics and genomics by offering allele frequency information and enabling large-scale studies across different ancestries.
- Recently, combining data from multiple biobanks has enhanced research capabilities, allowing for more robust genetic association findings, though researchers must be mindful of certain limitations in this trans-biobank approach.
