Publications by authors named "Liudmila Zudina"

Introduction: Polygenic score (PGS) is a valuable method for assessing the estimated genetic liability to a given outcome or genetic variability contributing to a quantitative trait. While polygenic risk scores are widely used for complex traits, their application in uncovering shared genetic predisposition between phenotypes, i.e.

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Conventional measurements of fasting and postprandial blood glucose levels investigated in genome-wide association studies (GWAS) cannot capture the effects of DNA variability on 'around the clock' glucoregulatory processes. Here we show that GWAS meta-analysis of glucose measurements under nonstandardized conditions (random glucose (RG)) in 476,326 individuals of diverse ancestries and without diabetes enables locus discovery and innovative pathophysiological observations. We discovered 120 RG loci represented by 150 distinct signals, including 13 with sex-dimorphic effects, two cross-ancestry and seven rare frequency signals.

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Article Synopsis
  • Extensive DNA methylation changes linked to human obesity have been identified, with significant associations in adipose tissue samples.
  • The study connects obesity-related methylation variations to changes in gene expression, affecting over 500 target genes and suggesting interactions with transcription factors.
  • Through various techniques, including Mendelian Randomisation, researchers infer that these methylation changes have causal effects on obesity and its metabolic issues, highlighting their role in adipocyte function.
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Obesity and type 2 diabetes (T2D) are associated with increased risk of pancreatic cancer. Here we assessed the relationship between pancreatic cancer and two distinct measures of obesity, namely total adiposity, using BMI, versus abdominal adiposity, using BMI adjusted waist-to-hip ratio (WHRadjBMI) by utilising polygenic scores (PGS) and Mendelian randomisation (MR) analyses. We constructed z-score weighted PGS for BMI and WHRadjBMI using publicly available data and tested for their association with pancreatic cancer defined in UK biobank (UKBB).

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Polycystic ovary syndrome (PCOS) is a very common endocrine condition in women in India. Gut microbiome alterations were shown to be involved in PCOS, yet it is remarkably understudied in Indian women who have a higher incidence of PCOS as compared to other ethnic populations. During the regional PCOS screening program among young women, we recruited 19 drug naive women with PCOS and 20 control women at the Sher-i-Kashmir Institute of Medical Sciences, Kashmir, North India.

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Article Synopsis
  • * A large study involving over 150,000 individuals found that genetic effects on fasting insulin vary by sex, specifically at the IRS1 and ZNF12 gene locations, with women showing higher RNA expression levels for ZNF12.
  • * The findings highlight that fasting insulin in women correlates more strongly with certain conditions like waist-to-hip ratio and anorexia nervosa, indicating that metabolic health differences between sexes may provide insight into their respective genetic influences.
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Assessment of phylogenetic positions of predicted gene and protein sequences is a routine step in any genome project, useful for validating the species' taxonomic position and for evaluating hypotheses about genome evolution and function. Several recent eukaryotic genome projects have reported multiple gene sequences that were much more similar to homologues in bacteria than to any eukaryotic sequence. In the spirit of the times, horizontal gene transfer from bacteria to eukaryotes has been invoked in some of these cases.

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