Article
Medicine, General & Internal
Panayiotis Louca, Tamara Stambuk, Azra Frkatovic-Hodzic, Ana Nogal, Massimo Mangino, Sarah E. Berry, Helena Deris, George Hadjigeorgiou, Jonathan Wolf, Martina Vinicki, Paul W. Franks, Ana M. Valdes, Tim D. Spector, Gordan Lauc, Cristina Menni
Summary: This study explores the relationship between plasma protein N-glycosylation and postprandial metabolism, and finds that certain glycans are significantly associated with postprandial triglycerides, glucose, and insulin levels. Furthermore, some glycans mediate the relationship between prediabetes and postprandial triglycerides.
Article
Biochemistry & Molecular Biology
Nikolina Pleic, Mirjana Babic Leko, Ivana Gunjaca, Thibaud Boutin, Vesela Torlak, Antonela Matana, Ante Punda, Ozren Polasek, Caroline Hayward, Tatijana Zemunik
Summary: This study explores the genetic architecture of plasma thyroglobulin (Tg) levels and identifies the important role of the ST6GAL1 gene in this process. The study also suggests that the genetic architecture of plasma Tg is not polygenic, but influenced by a few genes with major effects.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Gastroenterology & Hepatology
Connor A. Emdin, Mary Haas, Veeral Ajmera, Tracey G. Simon, Julian Homburger, Cynthia Neben, Lan Jiang, Wei-Qi Wei, Qiping Feng, Alicia Zhou, Joshua Denny, Kathleen Corey, Rohit Loomba, Sekar Kathiresan, Amit Khera
Summary: This study identified 12 independent genetic variants, including 7 newly identified ones, that confer risk for cirrhosis. A polygenic score based on these variants can identify a subset of the population at substantially increased risk, particularly those susceptible to the hepatotoxic effects of excess alcohol consumption or obesity.
Article
Biotechnology & Applied Microbiology
Daowu Hu, Shoupu He, Gaofei Sun, Yinhua Jia, Yonghong Su, Xiaojing Ma, Washu Dev, Mian Faisal Nazir, Xiaoli Geng, Liru Wang, Zhaoe Pan, Baojun Chen, Hongge Li, Xiaoyang Wang, Baoyin Pang, Xiongming Du
Summary: In this study, a genome-wide association study was conducted on 213 Asian cotton accessions to identify SNPs and genes associated with leaf traits. Differences in leaf morphology and transcriptome between two varieties were analyzed, and two coding genes and two microRNAs were selected as candidate genes for leaf traits.
Article
Multidisciplinary Sciences
Ming-Yue Zhang, Cheng Xue, Hongju Hu, Jiaming Li, Yongsong Xue, Runze Wang, Jing Fan, Cheng Zou, Shutian Tao, Mengfan Qin, Bing Bai, Xiaolong Li, Chao Gu, Shan Wu, Xu Chen, Guangyan Yang, Yueyuan Liu, Manyi Sun, Zhangjun Fei, Shaoling Zhang, Jun Wu
Summary: This study conducted genome-wide association studies to identify loci associated with fruit quality and phenological traits in pear, revealing continuous selection pressure on important traits during breeding. The candidate gene PbrSTONE was functionally verified to play a key role in regulating stone cell formation, a critical fruit quality trait in pear.
NATURE COMMUNICATIONS
(2021)
Article
Geriatrics & Gerontology
Jodie Lord, Anna Zettergren, Nicholas J. Ashton, Thomas K. Karikari, Andrea L. Benedet, Joel Simren, Abdul Hye, Dag Aarsland, Kaj Blennow, Henrik Zetterberg, Petroula Proitsi
Summary: Plasma phosphorylated tau at threonine-181 (P-tau181) has shown potential as a blood-based biomarker specific to Alzheimer's Disease, but its genetic underpinnings are not well understood. This study found no novel genetic associations relevant to plasma P-tau181, apart from the APOE genomic region, but identified rs60872856 on chromosome 2 as a candidate locus for further evaluation.
NEUROBIOLOGY OF AGING
(2021)
Article
Biochemistry & Molecular Biology
Shiyu Liao, Ju Yan, Hongkun Xing, Yuan Tu, Hu Zhao, Gongwei Wang
Summary: The study identified significant association loci for vascular bundle variations in rice, with key loci such as Ghd7 and NAL1 influencing the vascular bundles in different parts of the plant. These findings could be valuable for improving the vascular bundle system in rice breeding.
Article
Multidisciplinary Sciences
Matteo Sesia, Stephen Bates, Emmanuel Candes, Jonathan Marchini, Chiara Sabatti
Summary: The study introduces a comprehensive statistical framework for analyzing data from genome-wide association studies of polygenic traits, demonstrating validity and effectiveness through simulations and applications to the UK Biobank data. The method outperforms state-of-the-art alternatives and is supported by comparisons with other studies, offering researchers fast software for analyzing Biobank-scale datasets.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Biochemical Research Methods
Shijia Wang, Shufei Ge, Benjamin Sobkowiak, Liangliang Wang, Louis Grandjean, Caroline Colijn, Lloyd. T. T. Elliott
Summary: Genome-wide association studies are often affected by population stratification. Linear mixed models are a powerful method for controlling confounding factors. However, uncertainty about the phylogenetic structure may impact the quality of the results. This study proposes a linear mixed model that incorporates a genetic similarity matrix derived from Markov chain Monte Carlo estimates of the phylogeny.
JOURNAL OF COMPUTATIONAL BIOLOGY
(2023)
Article
Endocrinology & Metabolism
Chengyong Jia, Ruixin Wang, Tengfei Long, Yali Xu, Ying Zhang, Rong Peng, Xiaomin Zhang, Huan Guo, Handong Yang, Tangchun Wu, Meian He
Summary: The plasma selenium levels and NRF2 gene variants are associated with cardiovascular disease risk in the general population. This study examined the interaction between plasma selenium and NRF2 genetic susceptibility in relation to incident coronary heart disease risk among individuals with type 2 diabetes. The results suggest that the NRF2 promoter polymorphism modifies the association between plasma selenium levels and incident coronary heart disease risk in individuals with type 2 diabetes.
Article
Agriculture, Dairy & Animal Science
Matthew Barden, Bingjie Li, Bethany E. Griffiths, Alkiviadis Anagnostopoulos, Cherry Bedford, Androniki Psifidi, Georgios Banos, Georgios Oikonomou
Summary: The study aimed to estimate the genetic parameters of digital cushion thickness (DCT), assess the genetic correlation between DCT and claw horn lesions (CHL), and identify candidate genes associated with DCT. The results showed moderate heritability of DCT and a negative genetic correlation between DCT and sole lesions at different stages of production. Additionally, genes related to inflammation, fat metabolism, and bone development were found to be associated with DCT.
JOURNAL OF DAIRY SCIENCE
(2022)
Article
Biochemistry & Molecular Biology
Pirro G. Hysi, Massimo Mangino, Paraskevi Christofidou, Mario Falchi, Edward D. Karoly, Robert P. Mohney, Ana M. Valdes, Tim D. Spector, Cristina Menni
Summary: This study conducted a genome-wide association study on the levels of circulating metabolites in European subjects, identifying 202 unique genomic regions associated with 478 different metabolites. The replication study confirmed the robustness of these associations and discovered 74 novel genomic regions not previously associated with any metabolites.
Article
Biochemistry & Molecular Biology
Helena Deris, Petra Tominac, Frano Vuckovic, Arne Astrup, Ellen E. Blaak, Gordan Lauc, Ivan Gudelj
Summary: The aberrant plasma protein glycosylation associated with various diseases was studied by analyzing glycomes from participants of the Diogenes study. Significant alterations in glycan structures were observed 8 weeks after the low-calorie diet, but these effects were nullified during the weight-maintenance diets period.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Psychiatry
Zhen Zhang, Li Liu, Huijie Zhang, Chun'e Li, Yujing Chen, Jingxi Zhang, Chuyu Pan, Shiqiang Cheng, Xuena Yang, Peilin Meng, Yao Yao, Yumeng Jia, Yan Wen, Feng Zhang
Summary: This study explores the etiological mechanism of pain in depression patients from the perspective of genetics. Genome-wide association studies (GWAS), proteome-wide association study (PWAS), and transcriptome-wide association study (TWAS) were conducted to identify candidate genes associated with different pain traits in depression patients.
JOURNAL OF PSYCHIATRIC RESEARCH
(2022)
Article
Neurosciences
Bang-Sheng Wu, Yi-Jun Ge, Wei Zhang, Shi-Dong Chen, Shi-Tong Xiang, Ya-Ru Zhang, Ya-Nan Ou, Yu-Chao Jiang, Lan Tan, Wei Cheng, John Suckling, Jian-Feng Feng, Jin-Tai Yu, Ying Mao
Summary: In this study, a genome-wide association analysis of cerebellar white matter microstructure was conducted using diffusion tensor imaging data from 25,415 individuals from UK Biobank. The study identified 11 genetic loci and 86 genes associated with cerebellar white matter microstructure. Functional enrichment analysis revealed the involvement of GABAergic neurons and cholinergic pathways. The study also found significant genetic overlap between cerebellar white matter tracts and adjacent brain regions, as well as genetic correlations with movement, cognitive, psychiatric, and cerebrovascular traits. Overall, this study provides important insights into the genetics of cerebellar white matter microstructure and its shared genetic etiology with common brain disorders.
Article
Agriculture, Dairy & Animal Science
Alexander S. Zlobin, Natalia A. Volkova, Natalia A. Zinovieva, Baylar S. Iolchiev, Vugar A. Bagirov, Pavel M. Borodin, Tatiana I. Axenovich, Yakov A. Tsepilov
Summary: This study aims to determine the genetic factors associated with negative heterosis in interspecific hybrids between domestic sheep (Ovis aries) and argali (Ovis ammon). One novel locus associated with viability and two novel loci associated with meat productivity were identified. The loci associated with meat productivity were demonstrated to fit the overdominant inheritance model and could potentially be involved in negative heterosis mechanisms.
Article
Clinical Neurology
A. Jamaludin, T. Kadir, A. Zisserman, I. McCall, F. M. K. Williams, H. Lang, E. Buchanan, J. P. G. Urban, J. C. T. Fairbank
Summary: By re-annotating MRIs and using a verified automated MRI annotation system, we found that the relationship between degeneration and symptoms has been questioned. MRI detects similar degenerative changes in both symptomatic and asymptomatic individuals. The results indicate that age and disc level play a significant role in determining imaging differences between the two groups.
EUROPEAN SPINE JOURNAL
(2023)
Article
Biochemistry & Molecular Biology
Lucija Tudor, Gordana Nedic Erjavec, Matea Nikolac Perkovic, Marcela Konjevod, Suzana Uzun, Oliver Kozumplik, Ninoslav Mimica, Gordan Lauc, Dubravka Svob Strac, Nela Pivac
Summary: The molecular mechanisms behind PTSD, including the role of glycosylation and the FUT8 gene, were investigated in this study. Associations between plasma N-glycan levels and FUT8-related polymorphisms were observed in both PTSD patients and control participants. The findings suggest that FUT8-related polymorphisms play a regulatory role in glycosylation, which may contribute to the development and clinical manifestation of PTSD.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Endocrinology & Metabolism
Dinko Soic, Jerko Stambuk, Marko Tijardovic, Toma Keser, Gordan Lauc, Tomislav Bulum, Marijana Vucic Lovrencic, Sandra Vuckovic Rebrina, Martina Tomic, Mislav Novokmet, Lea Smircic-Duvnjak, Olga Gornik
Summary: This study investigated the association between C3 N-glycosylation and complications of type 1 diabetes, and found significant changes in C3 N-glycome in severe albuminuria and hypertension accompanying the disease. All C3 glycopeptides except one were associated with HbA1c levels, and one glycoform was associated with non-proliferative diabetic retinopathy. The results suggest that C3 N-glycosylation is a potential novel marker for the progression and severity of type 1 diabetes.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Barbara Radovani, Frano Vuckovic, Aldo P. Maggioni, Ele Ferrannini, Gordan Lauc, Ivan Gudelj
Summary: This study investigated the association between N-glycosylation of immunoglobulin G (IgG) and coronary artery disease (CAD). The analysis revealed differences in IgG N-glycome composition between CAD+ and CAD- cases, particularly in women, where sialylated N-glycan structures were negatively associated with CAD.
Article
Biochemistry & Molecular Biology
Maja Hanic, Frano Vuckovic, Helena Deris, Claire Bewshea, Simeng R. Lin, James Goodhand, Tariq Ahmad, Irena A. Trbojevic-Akmacic, Nicholas Kennedy, Gordan Lauc
Summary: Crohn's disease (CD) is a chronic inflammation of the digestive tract. Anti-TNF treatment can improve the condition, but its effectiveness varies among patients. This study used N-glycan analysis to investigate the effect of anti-TNF drugs on IgG composition and its potential in predicting therapy response. The results showed changes in IgG glycosylation patterns during treatment, suggesting reduced inflammation in CD patients. However, IgG glycome composition at baseline cannot solely predict future non-responders to anti-TNF therapy.
Article
Gastroenterology & Hepatology
Nicholas T. Ventham, Nicholas A. Kennedy, Rahul Kalla, Alex T. Adams, Alexandra Noble, Holly Ennis, T. O. P. P. I. C. Study Group, Ibd-biom Consortium, Craig Mowat, Malcolm G. Dunlop, Jack Satsangi
Summary: This study aimed to investigate the DNA methylation alterations associated with Crohn's disease (CD) recurrence following surgery. The results showed differentially methylated positions and differentially variable positions in patients with CD recurrence. The study also validated the previously reported CD-associated methylome.
CELLULAR AND MOLECULAR GASTROENTEROLOGY AND HEPATOLOGY
(2023)
Article
Biology
Irena Trbojevic-Akmacic, Frano Vuckovic, Tea Pribic, Marija Vilaj, Urh Cernigoj, Jana Vidic, Jelena Simunovic, Agnieszka Kepka, Ivana Kolcic, Lucija Klaric, Mislav Novokmet, Maja Pucic-Bakovic, Erdmann Rapp, Ales Strancar, Ozren Polasek, James F. F. Wilson, Gordan Lauc
Summary: A highly specific high-throughput approach for transferrin purification and characterization of N-glycosylation was developed. The N-glycosylation of transferrin is associated with age, sex, and various biochemical and physiological traits. The N-glycosylation patterns of transferrin differ from that of immunoglobulin G (IgG), indicating tissue-specific N-glycosylation and the specific role of N-glycans in distinct physiological functions.
COMMUNICATIONS BIOLOGY
(2023)
Article
Clinical Neurology
Francesco Gualdi, Isabelle Granville Smith, Roger Compte Boixader, Frances M. K. Williams
Summary: This study investigated the prevalence and severity of Modic change (MC) in individuals with autoimmune disorders and found no association between autoimmune disorders and MC. However, BMI was found to be independently associated with MC width.
EUROPEAN SPINE JOURNAL
(2023)
Article
Cell Biology
Marko Marjanovic, Ana-Matea Mikecin Drazic, Marija Mioc, Mladen Paradzik, Filip Klicek, Mislav Novokmet, Gordan Lauc, Marijeta Kralj
Summary: Targeting the Golgi apparatus could be a novel therapeutic approach against CSCs, as it selectively eliminates EMT cells.
JOURNAL OF CELL SCIENCE
(2023)
Article
Plant Sciences
Nadezhda A. Potapova, Anna N. Timoshchuk, Evgeny S. Tiys, Natalia A. Vinichenko, Irina N. Leonova, Elena A. Salina, Yakov A. Tsepilov
Summary: Wheat is an important cereal grain in the world's food industry. Identifying loci that affect the concentration of elements in wheat seeds is crucial for genomic selection and breeding of new varieties. In this study, a multivariate genome-wide association study was conducted on a collection of Russian common wheat, revealing novel loci associated with wheat grain element concentrations.
Article
Cell Biology
Aziz Belkadi, Gaurav Thareja, Fatemeh Abbaszadeh, Ramin Badii, Eric Fauman, Karsten Qatar Genome Program Res Consortium, Karsten Suhre
Summary: Natural human knockouts of genes associated with desirable outcomes can lead to the discovery of new drug targets and treatments. This study combined whole-genome sequencing with proteomics and metabolomics to evaluate the power of this approach for finding genes of clinical and pharmaceutical interest. A rare PCSK9 variant with low circulating levels was identified in a homozygous carrier from the Qatar Biobank, highlighting the potential of consanguineous populations for drug discovery.
Meeting Abstract
Biochemistry & Molecular Biology
Abril Izquierdo, Nick Shrine, Jing Chen, Anna Guyatt, Richard Packer, Chiara Batini, Karsten Suhre, Alfred Pozarickij, Robin G. Walters, Stephanie London, Andrew Morris, Louise Wain, Ian P. Hall, Martin D. Tobin
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)