Article
Biochemistry & Molecular Biology
Filomena Mottola, Marianna Santonastaso, Valentina Ronga, Renata Finelli, Lucia Rocco
Summary: This study investigated the association between polymorphic rearrangements of chromosome 9 and male infertility. The results suggested that these rearrangements might be associated with abnormalities in sperm quality, indicating their potential impact on spermatogenesis regulation.
Article
Cell Biology
Huili Xue, Xuemei Chen, Min Lin, Na Lin, Hailong Huang, Aili Yu, Liangpu Xu
Summary: Three fetuses with de novo marker chromosomes were identified using molecular cytogenetic techniques, revealing that specifying the origin, size, and gene content of marker chromosomes can aid decision-making and prognostic assessment.
Article
Entomology
Gleb N. Artemov, Valentina S. Fedorova, Dmitriy A. Karagodin, Ilya I. Brusentsov, Elina M. Baricheva, Igor V. Sharakhov, Mikhail I. Gordeev, Maria V. Sharakhova
Summary: The most dangerous vectors of malaria in the northern regions of the world belong to the Maculipennis group. Among the 22 species in this group, six are dominant vectors of malaria. Anopheles messeae and Anopheles daciae are widely spread and genetically diverse species. Studies on their genetic divergence are important for further investigation.
Article
Cell Biology
Concetta Scimone, Luigi Donato, Simona Alibrandi, Concetta Alafaci, Angela D'Ascola, Sergio Vinci, Rosalia D'Angelo, Antonina Sidoti
Summary: This study reveals the importance of epitranscriptomic modifications in gene expression regulation and suggests the involvement of altered epitranscriptome profile in the development of CCM. These findings provide new insights for further investigation into the pathogenesis of CCM.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
(2022)
Review
Genetics & Heredity
Klara Kosuthova, Roman Solc
Summary: Human chromosome inversions are balanced structural variations that are challenging to analyze. However, the development of paired-end sequencing and mapping technology has greatly advanced the study of inversions, revealing their important role in evolution.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Genetics & Heredity
Mette Viuff, Anne Skakkebaek, Emma B. Johannsen, Simon Chang, Steen Bonlykke Pedersen, Katrine Meyer Lauritsen, Mette Glavind Bulow Pedersen, Christian Trolle, Jesper Just, Claus H. Gravholt
Summary: This study comprehensively analyzed the effects of the X chromosome number on the transcriptome and methylome in blood, fat, and muscle tissue of individuals with sex chromosome aneuploidies (SCAs). It was found that X chromosome number globally affected the transcriptome and methylome in a tissue-specific manner. The study also identified different gene expression and methylation patterns between 45,X and 47,XXY, and observed a significant effect of sex in fat and muscle tissue. Additionally, the study found regulatory functions of Y chromosomal genes on X chromosomal genes.
Article
Biochemistry & Molecular Biology
Sthitaprajna Sahoo, Seungwoo Son, Hak-Kyo Lee, Jun-Yeong Lee, Vijayakumar Gosu, Donghyun Shin
Summary: AIM2 and IFI16, the most studied members of AIM2-like receptors (ALRs) in humans, play crucial roles in protecting against pathogenic assaults. This study identified deleterious and disease-causing genetic variations in AIM2 and IFI16 proteins using computational tools and analyzed their structural alterations through molecular dynamics simulation. The findings suggest that specific variants in AIM2 (G13V, C304R, G266R, and G266D) and IFI16 (G13E and C356F) affect structural integrity. These results provide valuable insights for future research on the function and therapeutic targeting of these polymorphisms.
JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS
(2023)
Article
Biochemistry & Molecular Biology
Kelly Acuna, Anjalee Choudhary, Elyana Locatelli, Daniel A. Rodriguez, Eden R. Martin, Roy C. Levitt, Anat Galor
Summary: The study aimed to investigate the effect of a genetic polymorphism in tumor necrosis factor receptor 1 (TNFR1) gene on dry eye disease (DED) phenotype and response to anti-inflammatory therapy. A prospective study was conducted on 328 individuals with various DED symptoms and signs. Genetic profiling was performed for a polymorphism within the TNFR1 gene. The study found that although a minority of individuals had a CC genotype, it did not significantly impact the DED phenotype and response to treatment. The findings suggest the current phenotyping strategies for DED are inadequate in identifying potential genetic contributors.
Review
Biology
Alexandr Sember, Petr Nguyen, Manolo F. Perez, Marie Altmanova, Petr Rab, Marcelo de Bello Cioffi
Summary: This review provides insights into the characteristics and evolutionary trends of multiple sex chromosome systems in teleost fishes, pointing out the predominance of male-heterogametic systems and the possible constraints on sex chromosome turnover in female-heterogametic systems. Furthermore, the study highlights the importance of broader inter-population sampling in understanding the evolution of multiple sex chromosomes in fishes.
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
(2021)
Article
Infectious Diseases
Meng Zhang, Jian-Qing He
Summary: The study indicates that genetic variants in the Smurf1 gene region are associated with the risk of tuberculous meningitis, providing important clues for understanding the immunopathogenesis of TBM and potentially identifying targets or genetic markers to guide treatment in patients with TBM.
INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES
(2021)
Article
Cell Biology
Kapali Suri, Neha Rajput, Priya Sharma, Aishwarya D. Omble, Kiran Kulkarni, Gagandeep K. Gahlay
Summary: Ovastacin (ASTL), a zinc metalloprotease, plays a crucial role in preventing polyspermy and protecting the pre-implantation embryo. Deleterious SNPs in ASTL can disrupt its interaction with ZP2 and FETUB, leading to female infertility. In silico analysis of 4,748 SNPs identified mutations in the catalytic domain of ASTL that affect its catalytic activity and zinc binding site. Docking studies revealed the involvement of hydrophobic interactions and H bonding between ASTL, ZP2, and FETUB, with specific amino acid positions showing significant associations with SNPs. These findings shed light on the importance of ASTL in fertility and provide insights into potential mechanisms underlying female infertility.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Multidisciplinary Sciences
Ruchi Lohia, Matthew E. B. Hansen, Grace Brannigan
Summary: This study investigates the role of hydrophobicity on the functional impact of sequence variants in a genomewide context. The findings indicate that the functional impact is not correlated with the hydrophobicity of the SNP itself, but is strongly correlated with the size and minimum hydrophobicity of the contiguous hydrophobic sequence. The study also suggests that longer unbroken hydrophobic sequences are more likely to be under selection, leading to improvements in genomic tools and understanding of protein-aggregation disease etiology and protein evolutionary history.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Biotechnology & Applied Microbiology
Guang-Bin Zhao, Lei Miao, Mengge Wang, Jia-Hui Yuan, Lan-Hai Wei, Yao-Sen Feng, Jie Zhao, Ke-Lai Kang, Chi Zhang, An-Quan Ji, Guanglin He, Le Wang
Summary: This article introduces a 639-plex panel including 633 Y-SNPs and 6 Y-Insertion/deletions for paternal studies and forensic applications in Chinese populations. The panel shows high concordance, accuracy, and reproducibility, and can represent the genetic diversity and complex population structures of the Chinese Y-chromosome.
Article
Clinical Neurology
Andreas Tornell, Roberta Kiffin, Sara Haghighi, Natalia Mossberg, Oluf Andersen, Kristoffer Hellstrand, Anna Martner
Summary: This study found that genetic variations within the CYBA gene, which affects the formation of reactive oxygen species (ROS), are associated with the severity and progression of multiple sclerosis (MS). Specifically, low-ROS alleles were linked to reduced MS severity and delayed onset of secondary progressive MS (SPMS). These findings suggest that targeting the NOX2 enzyme may be a potential therapeutic strategy to delay secondary progression in MS.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Hae-Yeon Park, Youngkook Kim, Hyun Mi Oh, Tae-Woo Kim, Geun-Young Park, Sun Im
Summary: This study investigated the different effects of SNPs on dysphagia recovery between elderly and young stroke patients. The rs4532 polymorphism in the dopamine receptor D1 gene showed potential association with poorer swallowing outcomes in older patients, while younger patients seemed not to be affected by this SNP. Considering gene-age interaction is important in understanding post-stroke swallowing recovery.
FRONTIERS IN NEUROLOGY
(2021)
Article
Oncology
Keyvan Torabi, Pau Erola, Maria Isabel Alvarez-Mora, Marcos Diaz-Gay, Queralt Ferrer, Antoni Castells, Sergi Castellvi-Bel, Montserrat Mila, Juan Jose Lozano, Rosa Miro, Thomas Ried, Immaculada Ponsa, Jordi Camps
INTERNATIONAL JOURNAL OF CANCER
(2019)
Article
Oncology
Carla Sole, Daniela Tramonti, Maike Schramm, Ibai Goicoechea, Maria Armesto, Luiza I. Hernandez, Lorea Manterola, Marta Fernandez-Mercado, Karmele Mujika, Anna Tuneu, Ane Jaka, Maitena Tellaetxe, Marc R. Friedlaender, Xavier Estivill, Paolo Piazza, Pablo L. Ortiz-Romero, Mark R. Middleton, Charles H. Lawrie
Article
Genetics & Heredity
Mattia Bosio, Oliver Drechsel, Rubayte Rahman, Francesc Muyas, Raquel Rabionet, Daniela Bezdan, Laura Domenech Salgado, Hyun Hor, Jean-Jacques Schott, Francina Munell, Roger Colobran, Alfons Macaya, Xavier Estivill, Stephan Ossowski
Article
Genetics & Heredity
Nicole M. Warrington, Robin N. Beaumont, Momoko Horikoshi, Felix R. Day, Oyvind Helgeland, Charles Laurin, Jonas Bacelis, Shouneng Peng, Ke Hao, Bjarke Feenstra, Andrew R. Wood, Anubha Mahajan, Jessica Tyrrell, Neil R. Robertson, N. William Rayner, Zhen Qiao, Gunn-Helen Moen, Marc Vaudel, Carmen J. Marsit, Jia Chen, Michael Nodzenski, Theresia M. Schnurr, Mohammad H. Zafarmand, Jonathan P. Bradfield, Niels Grarup, Marjolein N. Kooijman, Ruifang Li-Gao, Frank Geller, Tarunveer S. Ahluwalia, Lavinia Paternoster, Rico Rueedi, Ville Huikari, Jouke-Jan Hottenga, Leo-Pekka Lyytikainen, Alana Cavadino, Sarah Metrustry, Diana L. Cousminer, Ying Wu, Elisabeth Thiering, Carol A. Wang, Christian T. Have, Natalia Vilor-Tejedor, Peter K. Joshi, Jodie N. Painter, Ioanna Ntalla, Ronny Myhre, Niina Pitkanen, Elisabeth M. van Leeuwen, Raimo Joro, Vasiliki Lagou, Rebecca C. Richmond, Ana Espinosa, Sheila J. Barton, Hazel M. Inskip, John W. Holloway, Loreto Santa-Marina, Xavier Estivill, Wei Ang, Julie A. Marsh, Christoph Reichetzeder, Letizia Marullo, Berthold Hocher, Kathryn L. Lunetta, Joanne M. Murabito, Caroline L. Relton, Manolis Kogevinas, Leda Chatzi, Catherine Allard, Luigi Bouchard, Marie-France Hivert, Ge Zhang, Louis J. Muglia, Jani Heikkinen, Camilla S. Morgen, Antoine H. C. van Kampen, Barbera D. C. van Schaik, Frank D. Mentch, Claudia Langenberg, Jian'an Luan, Robert A. Scott, Jing Hua Zhao, Gibran Hemani, Susan M. Ring, Amanda J. Bennett, Kyle J. Gaulton, Juan Fernandez-Tajes, Natalie R. van Zuydam, Carolina Medina-Gomez, Hugoline G. de Haan, Frits R. Rosendaal, Zoltan Kutalik, Pedro Marques-Vidal, Shikta Das, Gonneke Willemsen, Hamdi Mbarek, Martina Mueller-Nurasyid, Marie Standl, Emil V. R. Appel, Cilius E. Fonvig, Caecilie Trier, Catharina E. M. van Beijsterveldt, Mario Murcia, Mariona Bustamante, Silvia Bonas-Guarch, David M. Hougaard, Josep M. Mercader, Allan Linneberg, Katharina E. Schraut, Penelope A. Lind, Sarah E. Medland, Beverley M. Shields, Bridget A. Knight, Jin-Fang Chai, Kalliope Panoutsopoulou, Meike Bartels, Friman Sanchez, Jakob Stokholm, David Torrents, Rebecca K. Vinding, Sara M. Willems, Mustafa Atalay, Bo L. Chawes, Peter Kovacs, Inga Prokopenko, Marcus A. Tuke, Hanieh Yaghootkar, Katherine S. Ruth, Samuel E. Jones, Po-Ru Loh, Anna Murray, Michael N. Weedon, Anke Toenjes, Michael Stumvoll, Kim F. Michaelsen, Aino-Maija Eloranta, Timo A. Lakka, Cornelia M. van Duijn, Wieland Kiess, Antje Koerner, Harri Niinikoski, Katja Pahkala, Olli T. Raitakari, Bo Jacobsson, Eleftheria Zeggini, George V. Dedoussis, Yik-Ying Teo, Seang-Mei Saw, Grant W. Montgomery, Harry Campbell, James F. Wilson, Tanja G. M. Vrijkotte, Martine Vrijheid, Eco J. C. N. de Geus, M. Geoffrey Hayes, Haja N. Kadarmideen, Jens-Christian Holm, Lawrence J. Beilin, Craig E. Pennell, Joachim Heinrich, Linda S. Adair, Judith B. Borja, Karen L. Mohlke, Johan G. Eriksson, Elisabeth E. Widen, Andrew T. Hattersley, Tim D. Spector, Mika Kaehoenen, Jorma S. Viikari, Terho Lehtimaeki, Dorret I. Boomsma, Sylvain Sebert, Peter Vollenweider, Thorkild I. A. Sorensen, Hans Bisgaard, Klaus Bonnelykke, Jeffrey C. Murray, Mads Melbye, Ellen A. Nohr, Dennis O. Mook-Kanamori, Fernando Rivadeneira, Albert Hofman, Janine F. Felix, Vincent W. V. Jaddoe, Torben Hansen, Charlotta Pisinger, Allan A. Vaag, Oluf Pedersen, Andre G. Uitterlinden, Marjo-Riitta Jarvelin, Christine Power, Elina Hypponen, Denise M. Scholtens, William L. Lowe, George Davey Smith, Nicholas J. Timpson, Andrew P. Morris, Nicholas J. Wareham, Hakon Hakonarson, Struan F. A. Grant, Timothy M. Frayling, Debbie A. Lawlor, Pal R. Njolstad, Stefan Johansson, Ken K. Ong, Mark I. McCarthy, John R. B. Perry, David M. Evans, Rachel M. Freathy
Article
Genetics & Heredity
Hunna J. Watson, Zeynep Yilmaz, Laura M. Thorntont, Christopher Hubel, Jonathan R. Coleman, Helena A. Gaspar, Julien Bryois, Anke Hinney, Virpi M. Leppa, Manuel Mattheisen, Sarah E. Medland, Stephan Ripke, Shuyang Yao, Paola Giusti-Rodriguez, Ken B. Hanscombe, Kirstin L. Purves, Roger A. H. Adan, Lars Alfredsson, Tetsuya Ando, Ole A. Andreassen, Jessica H. Baker, Wade H. Berrettini, Ilka Boehm, Claudette Boni, Vesna Boraska Perica, Katharina Buehren, Roland Burghardt, Matteo Cassina, Sven Cichon, Maurizio Clementi, Roger D. Cone, Philippe Courtet, Scott Crow, James J. Crowley, Unna N. Danner, Oliver S. P. Davis, Martina de Zwaan, George Dedoussis, Daniela Degortes, Janiece E. DeSocio, Danielle M. Dick, Dimitris Dikeos, Christian Dina, Monika Dmitrzak-Weglarz, Elisa Docampo, Laramie E. Duncan, Karin Egberts, Stefan Ehrlich, Georgia Escaramis, Tonu Eskos, Xavier Estivill, Anne Farmer, Angela Favaro, Fernando Fernandez-Aranda, Manfred M. Fichter, Krista Fischer, Manuel Foecker, Lenka Foretova, Andreas J. Forstner, Monica Forzan, Christopher S. Franklin, Steven Gallinger, Ina Giegling, Johanna Giuranna, Fragiskos Gonidakis, Philip Gorwood, Monica Gratacos Mayora, Sebastien Guillaume, Yiran Guo, Hakon Hakonarson, Konstantinos Hatzikotoulas, Joanna Hauser, Johannes Hebebrand, Sietske G. Helder, Stefan Herms, Beate Herpertz-Dahlmann, Wolfgang Herzog, Laura M. Huckins, James Hudson, Hartmut Imgart, Hidetoshi Inoko, Vladimir Janout, Susana Jimenez-Murcia, Antonio Julia, Gursharan Kalsi, Deborah Kaminska, Jaakko Kaprio, Leila Karhunen, Andreas Karwautz, Martien J. H. Kas, James L. Kennedy, Anna Keski-Rahkonen, Kirsty Kiezebrink, Youl-Ri Kim, Lars Klareskog, Kelly L. Klump, Gun Peggy S. Knudsen, Maria C. La Via, Stephanie Le Hellard, Robert D. Levitan, Dong Li, Lisa Lilenfeld, Bochao Danae Lin, Jolanta Lissowska, Jurjen Luykx, Pierre J. Magistretti, Mario Maj, Katrin Mannik, Sara Marsal, Christian R. Marshall, Morten Mattingsdal, Sara McDevitt, Peter McGuffin, Andres Metspalu, Ingrid Meulenbelt, Nadia Micali, Karen Mitchell, Alessio Maria Monteleone, Palmiero Monteleone, Melissa A. Munn-Chernoff, Benedetta Nacmias, Marie Navratilova, Ioanna Ntalla, Julie K. O'Toole, Roel A. Ophoff, Leonid Padyukov, Aarno Palotie, Jacques Pantel, Hana Papezova, Dalila Pinto, Raquel Rabionet, Anu Raevuori, Nicolas Ramoz, Ted Reichborn-Kjennerud, Valdo Ricca, Samuli Ripatti, Franziska Ritschel, Marion Roberts, Alessandro Rotondo, Dan Rujescu, Filip Rybakowski, Paolo Santonastaso, Andre Scherag, Stephen W. Scherer, Ulrike Schmidt, Nicholas J. Schork, Alexandra Schosser, Jochen Seitz, Lenka Slachtova, P. Eline Slagboom, Margarita C. T. Slof-Op 't Landt, Agnieszka Slopien, Sandro Sorbi, Beata Swiatkowska, Jin P. Szatkiewicz, Ioanna Tachmazidou, Elena Tenconi, Alfonso Tortorella, Federica Tozzi, Janet Treasure, Artemis Tsitsika, Marta Tyszkiewicz-Nwafor, Konstantinos Tziouvas, Annemarie A. van Elbur, Eric F. van Furth, Gudrun Wagner, Esther Walton, Elisabeth Widen, Eleftheria Zeggini, Stephanie Zerwas, Stephan Zipfel, Andrew W. Bergen, Joseph M. Boden, Harry Brandt, Steven Crawford, Katherine A. Halmi, L. John Horwood, Craig Johnson, Allan S. Kaplan, Walter H. Kaye, James E. Mitchell, Catherine M. Olsen, John F. Pearson, Nancy L. Pedersen, Michael Strober, Thomas Werge, David C. Whiteman, D. Blake Woodside, Garret D. Stuber, Scott Gordon, Jakob Grove, Anjali K. Henders, Anders Jureus, Katherine M. Kirk, Janne T. Larsen, Richard Parker, Liselotte Petersen, Jennifer Jordan, Martin Kennedy, Grant W. Montgomery, Tracey D. Wade, Andreas Birgegard, Paul Lichtenstein, Claes Norring, Mikael Landen, Nicholas G. Martin, Preben Bo Mortensen, Patrick F. Sullivan, Gerome Breen, Cynthia M. Bulik
Article
Dermatology
M. Bustamante, C. Hernandez-Ferrer, A. Tewari, Y. Sarria, G. I. Harrison, E. Puigdecanet, L. Nonell, W. Kang, M. R. Friedlander, X. Estivill, J. R. Gonzalez, M. Nieuwenhuijsen, A. R. Young
BRITISH JOURNAL OF DERMATOLOGY
(2020)
Article
Endocrinology & Metabolism
Shylaja Srinivasan, Ling Chen, Jennifer Todd, Jasmin Divers, Samuel Gidding, Steven Chernausek, Rose A. Gubitosi-Klug, Megan M. Kelsey, Rachana Shah, Mary Helen Black, Lynne E. Wagenknecht, Alisa Manning, Jason Flannick, Giuseppina Imperatore, Josep M. Mercader, Dana Dabelea, Jose C. Florez
Summary: In this study, a multiethnic collaboration named ProDiGY identified genetic variants predisposing to youth-onset type 2 diabetes, including seven genome-wide significant loci such as the novel locus rs10992863 in PHF2. Secondary analysis revealed an additional locus in CPEB2, providing insights into the genetic underpinnings of youth-onset type 2 diabetes.
Article
Biochemical Research Methods
Hana Susak, Laura Serra-Saurina, German Demidov, Raquel Rabionet, Laura Domenech, Mattia Bosio, Francesc Muyas, Xavier Estivill, Georgia Escaramis, Stephan Ossowski
Summary: Complex diseases are influenced by genetic and environmental factors, with rare variants playing a crucial role in explaining disease mechanisms. A new Bayesian rare variant Association Test using Integrated Nested Laplace Approximation (BATI) was developed, outperforming established methods and achieving high power even when variants explain a small fraction of phenotypic variance.BATI was integrated into the 'Rare Variant Genome Wide Association Study' (rvGWAS) framework, allowing for comprehensive analysis of rare variants in whole-exome or whole genome sequencing data.
PLOS COMPUTATIONAL BIOLOGY
(2021)
Article
Medicine, General & Internal
Aaron Leong, Joanne B. Cole, Laura N. Brenner, James B. Meigs, Jose C. Florez, Josep M. Mercader
Summary: This study used Mendelian randomization analyses to test the causal relationship between 17 cardiometabolic diseases and traits with COVID-19 illness. The findings suggest that higher body mass index is associated with a higher risk of hospitalization for COVID-19, possibly mediated by obesity-related cardiometabolic diseases.
Article
Genetics & Heredity
Kholoud N. Al-Shafai, Mohammed Al-Hashemi, Chidambaram Manickam, Rania Musa, Senthil Selvaraj, Najeeb Syed, Fazulur Vempalli, Muneera Ali, Magdi Yacoub, Xavier Estivill
Summary: The study established the DOHA Registry and Biobank for cardiomyopathies in Qatar and sequenced 174 genes in 51 HCM and 53 DCM patients. Results showed that 20% of HCM cases had putative pathogenic variants, while 8% of DCM cases had such variants. Further research is needed for variants of uncertain significance.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Ophthalmology
Gayatri Susarla, Weilin Chan, Ashley Li, Samaneh Davoudi, Tina Ahmadi, Shaleen Sathe, Lisa Tom, George N. Papaliodis, Josep M. Mercader, Aaron Leong, Lucia Sobrin
Summary: The study found a genetic association between decreased 25-hydroxy Vitamin D levels and uveitis/scleritis risk, suggesting a causal relationship between low Vitamin D levels and non-infectious uveitis and scleritis. Vitamin D supplementation may be a cost-effective, low-risk intervention to mitigate the risk of non-infectious uveitis and scleritis.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2022)
Article
Endocrinology & Metabolism
Edgar G. Dorsey-Trevino, Varinderpal Kaur, Josep M. Mercader, Jose C. Florez, Aaron Leong
Summary: GLP1R gene polymorphisms are associated with differences in GLP-1 levels, highlighting altered incretin signaling as a potential mechanism by which GLP1R gene variation affects the risk of type 2 diabetes.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Hyunkyung Kim, Kenneth E. Westerman, Kirk Smith, Joshua Chiou, Joanne B. Cole, Timothy Majarian, Marcin von Grotthuss, Soo Heon Kwak, Jaegil Kim, Josep M. Mercader, Jose C. Florez, Kyle Gaulton, Alisa K. Manning, Miriam S. Udler
Summary: This study developed a high-throughput pipeline to cluster type 2 diabetes loci and identified genetic clusters associated with cellular function and clinical outcomes. The pipeline allows for efficient updating and can be applied to other diseases, facilitating the clinical translation of GWAS findings.
Article
Endocrinology & Metabolism
Aaron J. Deutsch, Lauren Stalbow, Timothy D. Majarian, Josep M. Mercader, Alisa K. Manning, Jose C. Florez, Ruth J. F. Loos, Miriam S. Udler
Summary: Self-reported race may affect the accuracy of automated algorithms in identifying individuals with type 1 diabetes. The study found that incorporating polygenic scores can improve the identification of type 1 diabetes.
Article
Endocrinology & Metabolism
Laura N. Brenner, Josep M. Mercader, Catherine C. Robertson, Joanne Cole, Ling Chen, Suzanne B. R. Jacobs, Stephen S. Rich, Jose C. Florez
JOURNAL OF THE ENDOCRINE SOCIETY
(2020)