| 1. |
- Li, Chen, et al.
(author)
-
Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length
- 2020
-
In: American Journal of Human Genetics. - : CELL PRESS. - 0002-9297 .- 1537-6605. ; 106:3, s. 389-404
-
Journal article (peer-reviewed)abstract
- Leukocyte telomere length (LTL) is a heritable biomarker of genomic aging. In this study, we perform a genome-wide meta-analysis of LTL by pooling densely genotyped and imputed association results across large-scale European-descent studies including up to 78,592 individuals. We identify 49 genomic regions at a false dicovery rate (FDR) < 0.05 threshold and prioritize genes at 31, with five highlighting nucleotide metabolism as an important regulator of LTL. We report six genome-wide significant loci in or near SENP7, MOB1B, CARMIL1 , PRRC2A, TERF2, and RFWD3, and our results support recently identified PARP1, POT1, ATM, and MPHOSPH6 loci. Phenome-wide analyses in >350,000 UK Biobank participants suggest that genetically shorter telomere length increases the risk of hypothyroidism and decreases the risk of thyroid cancer, lymphoma, and a range of proliferative conditions. Our results replicate previously reported associations with increased risk of coronary artery disease and lower risk for multiple cancer types. Our findings substantially expand current knowledge on genes that regulate LTL and their impact on human health and disease.
|
|
| 2. |
- Posserud, Maj-Britt, et al.
(author)
-
Factor analysis of the Autism Spectrum Screening Questionnaire.
- 2008
-
In: Autism. - : SAGE Publications. - 1362-3613 .- 1461-7005. ; 12:1, s. 99-112
-
Journal article (peer-reviewed)abstract
- The present study investigated the factor structure of parent and teacher Autism Spectrum Screening Questionnaire (ASSQ) in a population of 7-9 years old children. For validation purposes, factors derived were correlated with results on the Strengths and Difficulties Questionnaire (SDQ). A three-factor solution was identified on both parent and teacher ASSQ. Most of the variance was explained by one factor including measures of social function, validated by a high correlation with the SDQ peer problems scale. The second factor included measures of autism-associated problems. The items allocated to the third factor were more specific for a cognitive style typically found in high-functioning individuals with autism/Asperger syndrome. This factor did not correlate highly with any of the SDQ subscales. The results indicated that the screening efficiency of ASSQ could be increased by closer examination of the individual profile of factor scores.
|
|
| 3. |
- Verhoeven, Maarten D, et al.
(author)
-
Fermentation of glucose-xylose-arabinose mixtures by a synthetic consortium of single-sugar-fermenting Saccharomyces cerevisiae strains
- 2018
-
In: FEMS yeast research (Print). - : Oxford University Press. - 1567-1356 .- 1567-1364. ; 18:8
-
Journal article (peer-reviewed)abstract
- D-glucose, D-xylose and L-arabinose are major sugars in lignocellulosic hydrolysates. This study explores fermentation of glucose-xylose-arabinose mixtures by a consortium of three 'specialist' Saccharomyces cerevisiae strains. A D-glucose- and L-arabinose-tolerant xylose specialist was constructed by eliminating hexose phosphorylation in an engineered xylose-fermenting strain and subsequent laboratory evolution. A resulting strain anaerobically grew and fermented D-xylose in the presence of 20 g L-1 of D-glucose and L-arabinose. A synthetic consortium that additionally comprised a similarly obtained arabinose specialist and a pentose non-fermenting laboratory strain, rapidly and simultaneously converted D-glucose and L-arabinose in anaerobic batch cultures on three-sugar mixtures. However, performance of the xylose specialist was strongly impaired in these mixed cultures. After prolonged cultivation of the consortium on three-sugar mixtures, the time required for complete sugar conversion approached that of a previously constructed and evolved 'generalist' strain. In contrast to the generalist strain, whose fermentation kinetics deteriorated during prolonged repeated-batch cultivation on a mixture of 20 g L-1 D-glucose, 10 g L-1 D-xylose and 5 g L-1 L-arabinose, the evolved consortium showed stable fermentation kinetics. Understanding the interactions between specialist strains is a key challenge in further exploring the applicability of this synthetic consortium approach for industrial fermentation of lignocellulosic hydrolysates.
|
|
