Article
Psychology, Developmental
Tomasz Iwanicki, Anna Balcerzyk, Beata Kazek, Ewa Emich-Widera, Wirginia Likus, Joanna Iwanicka, Agnieszka Kapinos-Gorczyca, Maciej Kapinos, Alicja Jarosz, Wladyslaw Grzeszczak, Sylwia Gorczynska-Kosiorz, Pawel Niemiec
Summary: This study aimed to perform family-based association analysis of PRKCB1 gene polymorphisms and autism disorder, showing that the T-allele of the rs198198 polymorphism may be associated with ASD in men and certain features characteristic for the disorder.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2022)
Article
Plant Sciences
Gabrielle Sousa Mafra, Janeo Eustaquio de Almeida Filho, Antonio Teixeira do Amaral Junior, Carlos Maldonado, Samuel Henrique Kamphorst, Valter Jario de Lima, Divino Rosa dos Santos Junior, Jhean Torres Leite, Pedro Henrique Araujo Diniz Santos, Talles de Oliveira Santos, Rosimeire Barboza Bispo, Ueliton Alves de Oliveira, Vitor Batista Pinto, Alexandre Pio Viana, Caio Cezar Guedes Correa, Sunny Ahmar, Freddy Mora-Poblete
Summary: The study applied the method of regional heritability mapping (RHM) in a popcorn breeding population to identify QTLs and candidate genes for various traits, revealing associations with forty-six candidate genes within the significant genomic regions. The results obtained by the RHM method have the potential to contribute to knowledge on the genetic architecture of growth and yield traits in popcorn.
Article
Biotechnology & Applied Microbiology
Seema Yadav, Elizabeth M. Ross, Karen S. Aitken, Lee T. Hickey, Owen Powell, Xianming Wei, Kai P. Voss-Fels, Ben J. Hayes
Summary: A LD-based algorithm is proposed to allocate unassigned SNPs to chromosome regions from sparse genetic maps, with an average proportion of over 94% SNP accuracy in placing them to chromosomes in sugarcane, wheat, and barley. This approach can improve genome-wide association studies and genomic prediction in crop species with fragmented and incomplete genome assemblies, benefiting genomic-assisted breeding for orphan crops.
Article
Obstetrics & Gynecology
Xiaocui Song, Li Ge, Dongsha Wang, Li Li, Dongmei Ma, Xiu Li
Summary: This study found no association between the PAI-1 gene and PCOS, despite the overtransmission of the 5G allele in families. This suggests that the PAI-1 gene is unlikely to play a major role in the etiology of PCOS in the Chinese population.
JOURNAL OF OBSTETRICS AND GYNAECOLOGY
(2022)
Article
Psychiatry
Ting Fang, Meng-Nan Liu, Xiao-Yu Tian, Guan-Yi Lu, Fei Li, Xiaojie Zhang, Feng Liu, Wei Hao, Ning Wu, Hong Li, Jin Li
Summary: This study found that two variants of the FKBP5 gene (rs4713916A and rs6926133A) were associated with an increased risk of severe DD in patients with MAUD. These findings would help with the development of biological early warning markers and the creation of personalized treatment strategies for MAUD.
FRONTIERS IN PSYCHIATRY
(2023)
Article
Genetics & Heredity
Michal Marczyk, Agnieszka Macioszek, Joanna Tobiasz, Joanna Polanska, Joanna Zyla
Summary: The study evaluated the impact of different integration methods and linkage disequilibrium correction on multiple GSA algorithms, with CERNO and MAGENTA combined with Stouffer method showing the most efficiency. LD correction increased prioritization and specificity of enrichment outcomes for all tested algorithms. The best performance was observed when using Fisher or Stouffer integration with LD correction.
FRONTIERS IN GENETICS
(2021)
Article
Dentistry, Oral Surgery & Medicine
Mariana Bezamat, Yuqiao Zhou, Timothy Park, Alexandre R. Vieira
Summary: A study conducted on individuals from 46 Filipino families identified genetic variants associated with torus palatinus. These variants, including SNP rs6582285 in the CAPS2 gene, were found to be linked to the risk of developing the condition. The findings support a multifactorial mode of inheritance for torus palatinus.
ARCHIVES OF ORAL BIOLOGY
(2021)
Article
Behavioral Sciences
Wenmiao Liu, Lulu Xu, Cheng Zhang, Lu Shen, Jicheng Dong, Han Zhang, Shiguo Liu, Fengyuan Che, Xueping Zheng
Summary: By conducting a case-control study and family-based analysis, we found that two SNPs (rs5005770 and rs35615695) of the ASH1L gene are associated with susceptibility to childhood Tourette syndrome (TS) in the Chinese Han population. This suggests that ASH1L may play a role as a risk factor in the development of TS.
BRAIN AND BEHAVIOR
(2022)
Article
Agriculture, Dairy & Animal Science
Ling Li, Yefang Li, Qing Ma, Shuqin Liu, Yuehui Ma, Lin Jiang
Summary: This study investigated the family structure, parent-child pair, and inbreeding coefficient of a Tan sheep breeding farm in Ningxia, China. The results provide the theoretical basis for selecting excellent breeding stock and making an appropriate mating plan, as well as the scientific basis for the conservation and reproduction of Tan sheep germplasm resources.
Article
Plant Sciences
Reena Rani, Ghulam Raza, Hamza Ashfaq, Muhammad Rizwan, Muhammad Khuram Razzaq, Muhammad Qandeel Waheed, Hussein Shimelis, Allah Ditta Babar, Muhammad Arif
Summary: Soybean is a significant crop globally, and this study used genome-wide association studies to identify genes and functional markers associated with soybean agronomic traits, providing valuable data for future breeding programs.
FRONTIERS IN PLANT SCIENCE
(2023)
Article
Infectious Diseases
Shulin Xia, Jiachen Ding, Zhenhua Zhang, Xu Li, Jianhe Gan, Xiaomin He
Summary: This study found no significant association between the CD24 gene's SNP P170 and susceptibility to chronic hepatitis B (CHB) in Chinese patients.
INFECTION AND DRUG RESISTANCE
(2022)
Article
Agriculture, Dairy & Animal Science
Hadi Atashi, Helene Wilmot, Nicolas Gengler
Summary: Quantifying the level of linkage disequilibrium (LD) is important for genomic selection, and this study evaluated LD in Dual-Purpose Belgian Blue (DPBB) and compared it with Holstein. The results showed that LD in DPBB was generally lower than in Holstein, and the effective population size decreased over generations in both breeds. At least 68,000 SNPs are needed for implementing genomic selection in DPBB cattle.
JOURNAL OF ANIMAL BREEDING AND GENETICS
(2022)
Article
Clinical Neurology
Alexander M. Kulminski, Ian Philipp, Yury Loika, Liang He, Irina Culminskaya
Summary: The protective role of the apolipoprotein E (APOE) epsilon 2 allele in Alzheimer's disease (AD) may be influenced by different immunomodulation functions of TOMM40 and APOE variants in a sex-specific manner, defining a more homogeneous AD-protective epsilon 2/epsilon 3-bearing profile in men.
ALZHEIMERS & DEMENTIA
(2021)
Article
Gastroenterology & Hepatology
Suk Yee Lam, Michiel C. Mommersteeg, Bingting Yu, Linda Broer, Manon C. W. Spaander, Fabian Frost, Stefan Weiss, Henry Voelzke, Markus M. Lerch, Ben Schoettker, Yan Zhang, Hannah Stocker, Hermann Brenner, Daniel Levy, Shih-Jen Hwang, Alexis C. Wood, Stephen S. Rich, Jerome I. Rotter, Kent D. Taylor, Russell P. Tracy, Edmond K. Kabagambe, Marcis Leja, Janis Klovins, Raitis Peculis, Dace Rudzite, Liene Nikitina-Zake, Girts Skenders, Vita Rovite, Andre Uitterlinden, Ernst J. Kuipers, Gwenny M. Fuhler, Georg Homuth, Maikel P. Peppelenbosch
Summary: The association between anti-H pylori IgG titers and the TLR1/6/10 locus was not replicated across different populations, and the variation at this locus affected TLR1-mediated cytokine production and TLR1 surface expression on monocytes and neutrophils.
Article
Health Care Sciences & Services
Malek Zihlif, Amer Imraish, Baeth Al-Rawashdeh, Aya Qteish, Raihan Husami, Rawand Husami, Farah Tahboub, Yazun Jarrar, Su-Jun Lee
Summary: This study found a statistically significant association between multiple ADAM33 genetic polymorphisms and IgE levels, particularly showing a significant relationship between V4 polymorphism and IgE levels in both adults and children. Such findings add to the growing evidence that the ADAM33 gene has a major impact on IgE levels among asthmatic patients of Jordanian origin.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Psychology, Clinical
Zeynep Yilmaz, Katherine Schaumberg, Matthew Halvorsen, Erica L. Goodman, Leigh C. Brosof, James J. Crowley, Carol A. Mathews, Manuel Mattheisen, Gerome Breen, Cynthia M. Bulik, Nadia Micali, Stephanie C. Zerwas
Summary: This study found a genetic overlap between anorexia nervosa (AN), obsessive-compulsive disorder (OCD), and anxiety symptoms, with a potential sex-specific contribution of genetic risk. AN and AN/OCD polygenic scores (PGS) played a more prominent role in predicting eating disorder and anxiety symptoms, while OCD PGS had a smaller effect. The results also suggest that compulsive exercise may have a transdiagnostic genetic etiology.
PSYCHOLOGICAL MEDICINE
(2023)
Article
Psychology, Clinical
Jessica S. Johnson, Alanna C. Cote, Amanda Dobbyn, Laura G. Sloofman, Jiayi Xu, Liam Cotter, Alexander W. Charney, Andreas Birgegard, Jennifer Jordan, Martin Kennedy, Mikael Landen, Sarah L. Maguire, Nicholas G. Martin, Preben Bo Mortensen, Laura M. Thornton, Cynthia M. Bulik, Laura M. Huckins
Summary: This study used transcriptomic imputation and phenome-wide association studies to explore the clinical consequences of genetically regulated gene expression in anorexia nervosa (AN). The results identified several genes associated with AN and revealed associations with autoimmune, metabolic, and gastrointestinal diagnoses, as well as other clinical measures. The analysis also showed that body mass index (BMI) and sex moderated some of the associations. These findings provide potential avenues for further investigation into the functional mechanisms of AN-associated genes.
PSYCHOLOGICAL MEDICINE
(2023)
Article
Nutrition & Dietetics
Neus Sole-Morata, Isabel Baenas, Mikel Etxandi, Roser Granero, Manel Gene, Carme Barrot, Monica Gomez-Pena, Laura Moragas, Nicolas Ramoz, Philip Gorwood, Fernando Fernandez-Aranda, Susana Jimenez-Murcia
Summary: Gambling Disorder (GD) is influenced by both genetic and environmental factors. This study investigated the underlying mechanisms of GD severity by examining the interactions between genetic, psychological, socio-demographic, and clinical factors. Pathway analysis revealed that specific genetic variants, in interaction with other biopsychological features, predicted greater severity of GD. These findings highlight the complex interplay between biopsychosocial variables in the development and severity of GD, and provide support for the involvement of genetic variants from the neurotrophic factor family.
Article
Psychiatry
Nathan A. Kimbrel, Allison E. Ashley-Koch, Xue J. Qin, Jennifer H. Lindquist, Melanie E. Garrett, Michelle F. Dennis, Lauren P. Hair, Jennifer E. Huffman, Daniel A. Jacobson, Ravi K. Madduri, Jodie A. Trafton, Hilary Coon, Anna R. Docherty, Niamh Mullins, Douglas M. Ruderfer, Philip D. Harvey, Benjamin H. McMahon, David W. Oslin, Jean C. Beckham, Elizabeth R. Hauser, Michael A. Hauser
Summary: This study aimed to identify the genetic basis of suicidal thoughts and behaviors. Through genome-wide association analysis, several risk loci for suicide were identified, and some of these loci were replicated in independent samples, providing evidence for their involvement in suicide.
Article
Biochemistry & Molecular Biology
Julia Mattioni, Clement Vansteene, Daphnee Poupon, Philip Gorwood, Nicolas Ramoz
Summary: In this study, a population-based case-control and genetic association research was conducted on a large sample of young adults to assess the role of dopamine receptor D2 (DRD2) and ankyrin repeat and kinase domain-containing protein 1 (ANKK1) genes in harmful alcohol use. The study found that a specific gene mutation in DRD2 was associated with harmful alcohol use, and early onset of alcohol consumption and depressive symptoms moderated the effect of this gene on harmful alcohol use.
Review
Clinical Neurology
Camille Verebi, Juliette Nectoux, Philip Gorwood, Yann Le Strat, Philibert Duriez, Nicolas Ramoz, Thierry Bienvenu
Summary: Recent research has found that circulating nucleic acids (CNAs) can be used as a new diagnostic and monitoring tool for mental disorders, particularly for diseases involving difficult-to-assess organs or structures. This review examines the application of plasma and serum cell-free DNA (cfDNA) as biomarkers for psychiatric disorders, including diagnosis, prognosis, treatment response, and disease progression. The overall effect size of plasma nuclear and mitochondrial cfDNA studies was generally moderate for psychiatric disorders. The future applications of CNAs, particularly cfDNA, as non-invasive biomarkers for these diseases are also discussed.
PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY
(2023)
Article
Endocrinology & Metabolism
Chloe Tezenas du Montcel, Jingxian Cao, Julia Mattioni, Heloise Hamelin, Nicolas Lebrun, Nicolas Ramoz, Philip Gorwood, Virginie Tolle, Odile Viltart
Summary: In eating disorders, particularly anorexia nervosa (AN), patients exhibit intense physical activity which is inappropriate regarding food restriction and chronic undernutrition, and exacerbates weight loss and energy deprivation. Rodent models of food restriction exhibit increased running wheel activity in the food anticipation period, also known as Food Anticipatory Activity (FAA). We hypothesize that the drive for physical activity in chronic food restriction is triggered by metabolic factors but also relies on motivational aspects that we aim to decipher in this study.
PSYCHONEUROENDOCRINOLOGY
(2023)
Article
Psychiatry
Aurelie Lacroix, Nicolas Ramoz, Murielle Girard, Brigitte Plansont, Daphnee Poupon, Philip Gorwood, Philippe Nubukpo
Summary: This study aimed to identify factors that influence the changes in brain-derived neurotrophic factor (BDNF) levels during alcohol abstinence. The researchers examined the associations between the change in serum BDNF levels and length of abstinence, anxiety and depression scores, a functional BDNF genotype, and methylation levels of 12 CpG sites within the BDNF gene. The results showed that serum BDNF levels increased during abstinence and correlated with the variation in methylation levels of the BDNF gene, particularly exon I. There was no significant effect of abstinence length, genotype, depression, or anxiety on serum BDNF levels. Therefore, epigenetic regulation of the BDNF gene may play a role in the variations of BDNF levels during alcohol abstinence.
WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY
(2023)
Article
Psychology, Clinical
Florent Abry, Philip Gorwood, Mouna Hanachi, Laura Di Lodovico
Summary: This study explored the long-term outcomes, quality of life, and attitudes towards treatment in patients involuntarily treated for extremely severe anorexia nervosa (AN). The findings suggest that involuntary treatment does not hinder weight restoration and clinical improvement, nor does it affect long-term attitudes towards treatment.
EUROPEAN EATING DISORDERS REVIEW
(2023)
Article
Psychiatry
Julia Eder, Geert Dom, Philip Gorwood, Hikka Kaerkkaeinen, Andre Decraene, Ulrike Kumpf, Julian Beezhold, Jerzy Samochowiec, Tamas Kurimay, Wolfgang Gaebel, Livia De Picker, Peter Falkai
Summary: The European Psychiatric Association has proposed a policy paper addressing the unmet healthcare and research needs of patients with depressive disorders. They emphasize the importance of increased awareness, development of new biomarkers, implementation of machine learning technology, use of electronic devices and apps for treatment, development of new treatment options, and comprehensive recovery approach. They also propose priorities at a political level regarding open science, data protection laws, ethical electronic health records, and better healthcare research and resource-saving.
EUROPEAN PSYCHIATRY
(2023)
Review
Psychiatry
Blazej Misiak, Jerzy Samochowiec, Krzysztof Kowalski, Wolfgang Gaebel, Claudio L. A. Bassetti, Andrew Chan, Philip Gorwood, Sergi Papiol, Geert Dom, Umberto Volpe, Agata Szulc, Tamas Kurimay, Hilkka Karkkainen, Andre Decraene, Jan Wisse, Andrea Fiorillo, Peter Falkai
Summary: The ongoing developments in psychiatric classification systems have improved the reliability of diagnosis for schizophrenia to some extent, but due to unknown pathophysiology and lack of biomarkers, its validity still remains low, requiring further advancements. In contrast, multiple sclerosis, with its established pathophysiology and defined biomarkers, has good validity and improved treatment options. Recognizing the clinical heterogeneity of schizophrenia and considering the similarities it shares with multiple sclerosis, it is crucial to deconstruct the psychosis spectrum and adopt dimensional approaches to refine current diagnostic boundaries.
EUROPEAN PSYCHIATRY
(2023)
Article
Psychiatry
Judit Simon, Patrice Boyer, Jose M. Caldas-de-Almeida, Martin Knapp, Paul McCrone, Philip Gorwood, Wolfgang Oertel, Celso Arango, Janet Treasure, Allan H. Young, Frederic Destrebecq, Vinciane Quoidbach
Summary: One in eight individuals worldwide and one in four individuals in many European countries have mental health problems. Three-quarters of mental health disorders develop before age 25, with undiagnosed symptoms often presenting in the mid-teens and lasting into old age. Evidence suggests that people frequently have multiple mental health disorders.
EUROPEAN PSYCHIATRY
(2023)
Article
Psychiatry
Alessio Maria Monteleone, Eugenia Barone, Giammarco Cascino, Ulrike Schmidt, Philip Gorwood, Umberto Volpe, Giovanni Abbate-Daga, Giovanni Castellini, Marina Diaz Marsa, Angela Favaro, Akira Fukutomi, Sebastien Guillaume, Petr Minarik, Jose Antonio Soriano Pacheco, Matteo Panero, Hana Papezova, Valdo Ricca, Cristina Segura-Garcia, Elisabetta Scanferla, Marta Tyszkiewicz-Nwafor, Fernando Fernandez-Aranda, Ulrich Voderholzer, Janet Treasure, Palmiero Monteleone
Summary: This study aimed to assess barriers and facilitators in accessing specialist care for eating disorders (EDs). The study found that most patients did not directly access specialist care, but sought treatment through mental health professionals and general practitioners. The involvement of multiple health professionals in seeking help, seeking treatment for general psychiatric symptoms, and lack of family support were associated with delayed access to ED units.
EUROPEAN PSYCHIATRY
(2023)
Article
Psychiatry
Elisabetta Scanferla, Katherine de Bienassis, Bernard Pachoud, Philip Gorwood
Summary: This study examines the impact of using standardized patient-reported indicators in acute psychiatric care. The findings suggest that subjective well-being indicators are relevant for evaluating the quality of hospital care, distinct from measures of symptom improvement and patient-reported experience.
EUROPEAN PSYCHIATRY
(2023)