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1.
  • Chen, Y. H., et al. (creator_code:aut_t)
  • Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases
  • 2023
  • record:In_t: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 55, s. 44-53
  • swepub:Mat_article_t (swepub:level_refereed_t)abstract
    • Metabolic processes can influence disease risk and provide therapeutic targets. By conducting genome-wide association studies of 1,091 blood metabolites and 309 metabolite ratios, we identified associations with 690 metabolites at 248 loci and associations with 143 metabolite ratios at 69 loci. Integrating metabolite-gene and gene expression information identified 94 effector genes for 109 metabolites and 48 metabolite ratios. Using Mendelian randomization (MR), we identified 22 metabolites and 20 metabolite ratios having estimated causal effect on 12 traits and diseases, including orotate for estimated bone mineral density, alpha-hydroxyisovalerate for body mass index and ergothioneine for inflammatory bowel disease and asthma. We further measured the orotate level in a separate cohort and demonstrated that, consistent with MR, orotate levels were positively associated with incident hip fractures. This study provides a valuable resource describing the genetic architecture of metabolites and delivers insights into their roles in common diseases, thereby offering opportunities for therapeutic targets.
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3.
  • Manning, Alisa, et al. (creator_code:aut_t)
  • A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk
  • 2017
  • record:In_t: Diabetes. - : AMER DIABETES ASSOC. - 0012-1797 .- 1939-327X. ; 66:7, s. 2019-2032
  • swepub:Mat_article_t (swepub:level_refereed_t)abstract
    • To identify novel coding association signals and facilitate characterization of mechanisms influencing glycemic traits and type 2 diabetes risk, we analyzed 109,215 variants derived from exome array genotyping together with an additional 390,225 variants from exome sequence in up to 39,339 normoglycemic individuals from five ancestry groups. We identified a novel association between the coding variant (p.Pro50Thr) in AKT2 and fasting plasma insulin (FI), a gene in which rare fully penetrant mutations are causal for monogenic glycemic disorders. The low-frequency allele is associated with a 12% increase in FI levels. This variant is present at 1.1% frequency in Finns but virtually absent in individuals from other ancestries. Carriers of the FI-increasing allele had increased 2-h insulin values, decreased insulin sensitivity, and increased risk of type 2 diabetes (odds ratio 1.05). In cellular studies, the AKT2-Thr50 protein exhibited a partial loss of function. We extend the allelic spectrum for coding variants in AKT2 associated with disorders of glucose homeostasis and demonstrate bidirectional effects of variants within the pleckstrin homology domain of AKT2.
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4.
  • Blomgren, Mats, et al. (creator_code:aut_t)
  • Idempotent transformations of finite groups
  • 2013
  • record:In_t: Advances in Mathematics. - : Elsevier BV. - 0001-8708 .- 1090-2082. ; 233:1, s. 56-86
  • swepub:Mat_article_t (swepub:level_refereed_t)abstract
    • We describe the action of idempotent transformations on finite groups. We show that finiteness is preserved by such transformations and enumerate all possible values such transformations can assign to a fixed finite simple group. This is done in terms of the first two homology groups. We prove for example that except special linear groups, such an orbit can have at most 7 elements. We also study the action of monomials of idempotent transformations on finite groups and show for example that orbits of this action are always finite.
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5.
  • Butler-Laporte, Guillaume, et al. (creator_code:aut_t)
  • Increasing serum iron levels and their role in the risk of infectious diseases : a Mendelian randomization approach
  • 2023
  • record:In_t: International Journal of Epidemiology. - : Oxford University Press. - 0300-5771 .- 1464-3685. ; 52:4, s. 1163-1174
  • swepub:Mat_article_t (swepub:level_refereed_t)abstract
    • Objectives Increased iron stores have been associated with elevated risks of different infectious diseases, suggesting that iron supplementation may increase the risk of infections. However, these associations may be biased by confounding or reverse causation. This is important, since up to 19% of the population takes iron supplementation. We used Mendelian randomization (MR) to bypass these biases and estimate the causal effect of iron on infections. Methods As instrumental variables, we used genetic variants associated with iron biomarkers in two genome-wide association studies (GWASs) of European ancestry participants. For outcomes, we used GWAS results from the UK Biobank, FinnGen, the COVID-19 Host Genetics Initiative or 23andMe, for seven infection phenotypes: 'any infections', combined, COVID-19 hospitalization, candidiasis, pneumonia, sepsis, skin and soft tissue infection (SSTI) and urinary tract infection (UTI). Results Most of our analyses showed increasing iron (measured by its biomarkers) was associated with only modest changes in the odds of infectious outcomes, with all 95% odds ratios confidence intervals within the 0.88 to 1.26 range. However, for the three predominantly bacterial infections (sepsis, SSTI, UTI), at least one analysis showed a nominally elevated risk with increased iron stores (P <0.05). Conclusion Using MR, we did not observe an increase in risk of most infectious diseases with increases in iron stores. However for bacterial infections, higher iron stores may increase odds of infections. Hence, using genetic variation in iron pathways as a proxy for iron supplementation, iron supplements are likely safe on a population level, but we should continue the current practice of conservative iron supplementation during bacterial infections or in those at high risk of developing them.
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6.
  • Chachólski, Wojciech, et al. (creator_code:aut_t)
  • Cellular covers of divisible abelian groups
  • 2009
  • record:In_t: ALPINE PERSPECTIVES ON ALGEBRAIC TOPOLOGY. - 9780821848395 ; , s. 77-97
  • swepub:Mat_conferencepaper_t (swepub:level_refereed_t)abstract
    • We determine all the possible values of the cellular approximation functor c(A) : cell(A)E -> E, where A is an arbitrary group and E is a divisible abelian group.
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7.
  • Chacholski, Wojciech, et al. (creator_code:aut_t)
  • The A-core and A-cover of a group
  • 2009
  • record:In_t: Journal of Algebra. - : Elsevier BV. - 0021-8693 .- 1090-266X. ; 321:2, s. 631-666
  • swepub:Mat_article_t (swepub:level_refereed_t)abstract
    • This paper provides a comprehensive investigation of the cellular approximation functor cell(A) G, in the category of groups. approximating a group G by a group A. We also study related notions such as A-injection, A-generation and A-constructibility of a group G and we find several interesting connections with the Schur multiplier H-2(G, Z). Our constructions are direct and are given in a slow and detailed manner.
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8.
  • Flannick, Jason, et al. (creator_code:aut_t)
  • Data Descriptor : Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
  • 2017
  • record:In_t: Scientific Data. - : Springer Science and Business Media LLC. - 2052-4463. ; 4
  • swepub:Mat_article_t (swepub:level_refereed_t)abstract
    • To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (> 80% of low-frequency coding variants in similar to ~82 K Europeans via the exome chip, and similar to ~90% of low-frequency non-coding variants in similar to ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.
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9.
  • Fuchsberger, Christian, et al. (creator_code:aut_t)
  • The genetic architecture of type 2 diabetes
  • 2016
  • record:In_t: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 536:7614, s. 41-47
  • swepub:Mat_article_t (swepub:level_refereed_t)abstract
    • The genetic architecture of common traits, including the number, frequency, and effect sizes of inherited variants that contribute to individual risk, has been long debated. Genome-wide association studies have identified scores of common variants associated with type 2 diabetes, but in aggregate, these explain only a fraction of the heritability of this disease. Here, to test the hypothesis that lower-frequency variants explain much of the remainder, the GoT2D and T2D-GENES consortia performed whole-genome sequencing in 2,657 European individuals with and without diabetes, and exome sequencing in 12,940 individuals from five ancestry groups. To increase statistical power, we expanded the sample size via genotyping and imputation in a further 111,548 subjects. Variants associated with type 2 diabetes after sequencing were overwhelmingly common and most fell within regions previously identified by genome-wide association studies. Comprehensive enumeration of sequence variation is necessary to identify functional alleles that provide important clues to disease pathophysiology, but large-scale sequencing does not support the idea that lower-frequency variants have a major role in predisposition to type 2 diabetes.
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