Article
Immunology
Manuela Moraru, Adriana Perez-Portilla, Karima Al-Akioui Sanz, Alfonso Blazquez-Moreno, Antonio Arnaiz-Villena, Hugh T. Reyburn, Carlos Vilches
Summary: Fc gamma receptors (FcγR) are cell-surface glycoproteins that play a role in immune responses. The CNR5 deletion on the FCGR locus can lead to loss and recombination of FCGR genes, potentially affecting immune function. The distribution of FCGR polymorphism shows significant variation in the highlands of Ecuador, with CNR5 deletion being relatively common.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Multidisciplinary Sciences
Huili Xue, Aili Yu, Na Lin, Xuemei Chen, Min Lin, Yan Wang, Hailong Huang, Liangpu Xu
Summary: The etiopathogenesis of fetal ventriculomegaly is not well understood. This study investigated the correlations between fetal ventriculomegaly and chromosome abnormalities, finding higher detection rates of clinically significant CNVs in non-isolated ventriculomegaly compared to isolated cases. Additionally, SNP arrays were found to effectively identify CNVs and increase the abnormal chromosomal detection rate, particularly in cases of ventriculomegaly accompanied by CNS anomalies.
SCIENTIFIC REPORTS
(2021)
Article
Clinical Neurology
Xiao Wang, Ashfaque A. Memon, Karolina Palmer, Anna Hedelius, Jan Sundquist, Kristina Sundquist
Summary: In this population-based follow-up study of Swedish women, no independent association was found between blood mtDNA-CN and the most common mental disorders, except for alcohol and drug use disorders.
JOURNAL OF AFFECTIVE DISORDERS
(2022)
Article
Biotechnology & Applied Microbiology
Rongrong Ding, Zhanwei Zhuang, Yibin Qiu, Xingwang Wang, Jie Wu, Shenping Zhou, Donglin Ruan, Cineng Xu, Linjun Hong, Ting Gu, Enqin Zheng, Gengyuan Cai, Wen Huang, Zhenfang Wu, Jie Yang
Summary: This study integrated a weighted single-step genome-wide association study (wssGWAS) and copy number variation (CNV) analyses to identify genetic variations and genes associated with loin muscle area, loin muscle depth, and lean meat percentage in Duroc pigs. By determining the CNV detection accuracy and constructing a genomic CNV map, valuable genetic variation resources for pig genome research were provided. The utilization of a composite genetic strategy for complex traits in pigs will contribute to elucidating the genetic architecture influenced by multiple forms of variations.
Article
Biochemical Research Methods
Luca Denti, Parsoa Khorsand, Paola Bonizzoni, Fereydoun Hormozdiari, Rayan Chikhi
Summary: Structural variants (SVs) contribute to sequence variability in genomes and are significant in human genomics and precision medicine. However, due to the complexities of the human genome, SV discovery in individuals has been challenging. The introduction of low-error long-read sequencing technologies, such as PacBio HiFi, may provide a solution to these challenges.
Article
Agriculture, Dairy & Animal Science
Zijing Zhang, Peng Yang, Pan He, Jiawei Xu, Shijie Lyu, Xian Liu, Cuicui Cai, Huimin Li, Zhiming Li, Baorui Ru, Jianliang Xie, Chuzhao Lei, Hong Chen, Eryao Wang, Yongzhen Huang
Summary: Copy number variation of the PLAG1 gene significantly affects the growth traits of XN cattle, JA cattle, and JX cattle. This may provide the basic material for molecular marker-assisted selection breeding of Chinese cattle breeds.
ANIMAL BIOTECHNOLOGY
(2022)
Article
Biochemical Research Methods
Junping Li, Lin Gao, Yusen Ye
Summary: The researchers developed a control-free method called HiSV for identifying large-scale structural variations from Hi-C samples. HiSV achieved superior accuracy and sensitivity through evaluations on simulated data sets and cancer cell lines, and effectively captured complex SVs. HiSV can also supplement the results of WGS methods.
PLOS COMPUTATIONAL BIOLOGY
(2023)
Article
Psychiatry
Ester Sada-Fuente, Selena Aranda, Sergi Papiol, Urs Heilbronner, Maria Dolores Molto, Eduardo J. Aguilar, Javier Gonzalez-Penas, Alvaro Andreu-Bernabeu, Celso Arango, Benedicto Crespo-Facorro, Ana Gonzalez-Pinto, Lourdes Fananas, Barbara Arias, Julio Bobes, Javier Costas, Lourdes Martorell, Thomas G. Schulze, Janos L. Kalman, Elisabet Vilella, Gerard Muntane
Summary: Schizophrenia (SCZ) is a complex disorder with onset in late adolescence or early adulthood. A genome-wide association study (GWAS) was conducted to explore the genetic architecture of age at onset (AAO) in 4,740 individuals of European ancestry. The study revealed a moderate contribution of common variants to AAO and a negative association between AAO and common variants for SCZ, childhood maltreatment, and attention-deficit/hyperactivity disorder. Copy number variant (CNV) analysis showed an association between AAO and the length and number of deletions. This study provides valuable insights into the genetic factors influencing AAO of SCZ.
TRANSLATIONAL PSYCHIATRY
(2023)
Article
Genetics & Heredity
M. Muaaz Aslam, Peter John, Kang-Hsien Fan, Javaid Mehmood Malik, Eleanor Feingold, F. Yesim Demirci, M. Ilyas Kamboh
Summary: This study investigated the association of FCGR3B copy number variation with rheumatoid arthritis susceptibility and related serological traits. The results showed that FCGR3B copy number < 2 is associated with increased risk of rheumatoid arthritis and anti-CCP seropositivity.
Article
Genetics & Heredity
Tatiana Bliskunova, Alma Delia Genis-Mendoza, Jose Jaime Martinez-Magana, Julissa Gabriela Vega-Sevey, Janett Jimenez-Genchi, Andres Roche, Rafael Guzman, Leonor Zapata, Susana Castro-Chavira, Thalia Fernandez, Jorge Ameth Villatoro-Velazquez, Beatriz Camarena, Clara Fleiz-Bautista, Marycarmen Bustos-Gamino, Maria Elena Medina-Mora, Humberto Nicolini
Summary: This study identified a rare CNV associated with NCDs on the MGAT4C gene in a sample of the Mexican population, which was validated in a smaller replication sample. However, further research with larger sample sizes is needed to explore this association.
Article
Biology
Milovan Suvakov, Arijit Panda, Colin Diesh, Ian Holmes, Alexej Abyzov
Summary: CNVpytor is an extension of CNVnator that improves performance and functionality, allowing for filtering, annotation, and merging of CNV calls across multiple samples. Its modular architecture enables use in shared and cloud environments, and data can be exported to JBrowse for visualization and analysis.
Article
Biochemistry & Molecular Biology
Javier Ib, Lalla Hasna Zinelabidine, Rafael Torres-Perez, Jerome Grimplet, Elisa Baroja, Sergio Ibanez, Pablo Carbonell-Bejerano, Jose Miguel Martinez-Zapater, Javier Ibanez, Javier Tello
Summary: The study revealed that grape yield components are determined by complex polygenic factors, with certain SNPs showing additive effects on the phenotype. This suggests that superior grape cultivars with optimized fruit production can potentially be generated by pyramiding advantageous alleles from different genetic loci.
Article
Genetics & Heredity
Wenwen Ren, Chun Huang, Xiaoming Ma, Yongfu La, Min Chu, Xian Guo, Xiaoyun Wu, Ping Yan, Chunnian Liang
Summary: This study found that HSF1-CNV is significantly associated with body length and withers height in Ashidan yaks. Additionally, HSF1 expression is higher in the heart and muscle.
Article
Dermatology
Rachel L. Fulton, David J. Margolis, Patrick G. Sockler, Nandita Mitra, Xuan Fei Colin Cornelius Wong, John E. Common
Summary: Atopic dermatitis is a chronic inflammatory skin condition with a multifactorial pathophysiology. Research has shown that filaggrin gene (FLG) plays a significant role in skin barrier dysfunction and can increase the risk of developing AD. However, a study evaluating FLG CNV in Whites and Blacks found that while racial differences exist, they do not seem to explain the risk of developing AD.
EXPERIMENTAL DERMATOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Mahdieh Labani, Ali Afrasiabi, Amin Beheshti, Nigel H. Lovell, Hamid Alinejad-Rokny
Summary: Copy Number Variation (CNV) is a type of genetic variation where a segment of chromosome is duplicated or deleted and has been identified to be associated with various diseases and phenotypes. However, conducting a CNV-based genome-wide association study is challenging due to the inconsistency of CNV length and occurrence across different individuals. Researchers have developed a tool called PeakCNV, which uses a new metric called independence ranking score (IR-score) to differentiate false-positive and true positive CNV regions, improving the accuracy of CNV association studies.
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL
(2022)
Article
Psychology, Clinical
Trevor Steward, Ignacio Martinez-Zalacain, Gemma Mestre-Bach, Isabel Sanchez, Nadine Riesco, Susana Jimenez-Murcia, Jose A. Fernandez-Formoso, Misericordia Veciana de las Heras, Nuria Custal, Jose M. Menchon, Carles Soriano-Mas, Fernando Fernandez-Aranda
Summary: The study found that patients with anorexia nervosa exhibited abnormal fronto-amygdalar response during emotion regulation, which may be associated with treatment response and clinical severity.
PSYCHOLOGICAL MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Laila Al-Soufi, Lourdes Martorell, M. Dolores Molto, Javier Gonzalez-Penas, Ma Paz Garcia-Portilla, Manuel Arrojo, Olga Rivero, Alfonso Gutierrez-Zotes, Juan Nacher, Gerard Muntane, Eduardo Paz, Mario Paramo, Julio Bobes, Celso Arango, Julio Sanjuan, Elisabet Vilella, Javier Costas
Summary: The study found that smoking prevalence is higher among schizophrenia patients and genetic factors may explain the difference in smoking rates. Polygenic risk scores show that various genetic traits are associated with smoking behavior in both patients and controls, suggesting that genetic susceptibility plays a significant role in smoking behavior.
Article
Multidisciplinary Sciences
Alvaro Andreu-Bernabeu, Covadonga M. Diaz-Caneja, Javier Costas, Lucia De Hoyos, Carol Stella, Xaquin Gurriaran, Clara Alloza, Lourdes Fananas, Julio Bobes, Ana Gonzalez-Pinto, Benedicto Crespo-Facorro, Lourdes Martorell, Elisabet Vilella, Gerard Muntane, Juan Nacher, Maria Dolores Molto, Eduardo Jesus Aguilar, Mara Parellada, Celso Arango, Javier Gonzalez-Penas
Summary: This study demonstrates the contribution of loneliness and social isolation (LNL-ISO) to schizophrenia risk through a polygenic score, showing differential effects in different genders and other mental disorders, and suggesting a plausible bi-directional causal relationship.
NATURE COMMUNICATIONS
(2022)
Article
Genetics & Heredity
Veronica Mixao, Valentina del Olmo, Eva Hegedusova, Ester Saus, Leszek Pryszcz, Andrea Cillingova, Jozef Nosek, Toni Gabaldon
Summary: This study indicates the presence of additional hybrid species in the complex of Candida parapsilosis and multiple independent occurrences of linear configuration in mitochondrial genomes of Candida species. These findings reinforce the hypothesis that hybridization is widespread among Candida species and potentially contributes to the emergence of lineages with opportunistic pathogenic behavior.
Article
Psychiatry
Cristina Vintro-Alcaraz, Lucero Munguia, Roser Granero, Anahi Gaspar-Perez, Neus Sole-Morata, Isabel Sanchez, Jessica Sanchez-Gonzalez, Jose M. Menchon, Susana Jimenez-Murcia, Fernando Fernandez-Aranda
Summary: This study confirms that emotion regulation is a transdiagnostic construct between eating disorders and gambling disorder through joint clinical clustering analysis. The severity of emotion regulation difficulties is linearly related to the severity of the disorders and psychopathological state. The study also found that treatment response is associated with different emotion regulation subgroups, suggesting the need for tailored treatments for patients with poor emotion regulation abilities.
JOURNAL OF BEHAVIORAL ADDICTIONS
(2022)
Article
Biotechnology & Applied Microbiology
Jesse R. Willis, Ester Saus, Susana Iraola-Guzman, Ewa Ksiezopolska, Luca Cozzuto, Luis A. Bejarano, Nuria Andreu-Somavilla, Miriam Alloza-Trabado, Andrea Blanco, Anna Puig-Sola, Elisabetta Broglio, Carlo Carolis, Julia Ponomarenko, Jochen Hecht, Toni Gabaldon
Summary: The human oral microbiome plays a significant role in human health, with factors such as age, chronic health disorders, smoking, and presence of yeasts in the oral cavity influencing its composition. Relatives and even classmates tend to have more similar oral microbiomes, indicating that multiple intrinsic and extrinsic factors collectively shape the oral microbiome.
NPJ BIOFILMS AND MICROBIOMES
(2022)
Correction
Biochemistry & Molecular Biology
Laia Carrete, Ewa Ksiezopolska, Cinta Pegueroles, Emilia Gomez-Molero, Ester Saus, Susana Iraola-Guzman, Damian Loska, Oliver Bader, Cecile Fairhead, Toni Gabaldon
Article
Biochemistry & Molecular Biology
Maria Elena Silva, Matias Hernandez-Andrade, Nerea Abasolo, Cristobal Espinoza-Cruells, Josselyne B. Mansilla, Carolina R. Reyes, Selena Aranda, Yaiza Esteban, Ricardo Rodriguez-Calvo, Lourdes Martorell, Gerard Muntane, Francisco J. Rivera, Elisabet Vilella
Summary: The study investigated the activation and function of DDR1 in OLs by collagen IV. The results showed that collagen IV could induce DDR1 phosphorylation in OLs derived from both neural stem cells and human oligodendroglial cells. The protein expression of DDR1 decreased during OL differentiation. The addition of collagen IV did not change the number of DDR1+/MBP+ cells but accelerated OL branching.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Psychology, Developmental
Sara Bertolin, Pino Alonso, Ignacio Martinez-Zalacain, Jose M. Menchon, Susana Jimenez-Murcia, Justin T. Baker, Nuria Bargallo, Marcelo Camargo Batistuzzo, Premika S. W. Boedhoe, Brian P. Brennan, Jamie D. Feusner, Kate D. Fitzgerald, Martine Fontaine, Bjarne Hansen, Yoshiyuki Hirano, Marcelo Q. Hoexter, Chaim Huyser, Neda Jahanshad, Fern Jaspers-Fayer, Masaru Kuno, Gerd Kvale, Luisa Lazaro, Mafalda Machado-Sousa, Rachel Marsh, Pedro Morgado, Akiko Nakagawa, Luke Norman, Erika L. Nurmi, Joseph O'Neill, Ana E. Ortiz, Chris Perriello, John Piacentini, Maria Pico-Perez, Roseli G. Shavitt, Eiji Shimizu, Helen Blair Simpson, S. Evelyn Stewart, Sophia I. Thomopoulos, Anders Lillevik Thorsen, Susanne Walitza, Lidewij H. Wolters, Paul M. Thompson, Odile A. van den Heuvel, Dan J. Stein, Carles Soriano-Mas
Summary: The results of the study suggest that higher cortical thickness in specific right prefrontal cortex regions may play an important role in the response to cognitive-behavioral therapy in children with OCD.
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
(2023)
Article
Oncology
Olfat Khannous-Lleiffe, Jesse R. Willis, Ester Saus, Victor Moreno, Sergi Castellvi-Bel, Toni Gabaldon
Summary: Colorectal cancer (CRC) is a global healthcare challenge influenced by genetic and environmental factors. This study used 16S rRNA sequencing to analyze FIT samples and found that the gut microbiome has predictive potential and undergoes changes during the progression from healthy tissue to carcinoma. These findings have implications for understanding the role of microbes in adenoma to carcinoma progression and improving CRC screening programs.
Article
Biochemistry & Molecular Biology
Montse Guardiola, Gerard Muntane, Iris Martinez, Lourdes Martorell, Josefa Girona, Daiana Ibarretxe, Nuria Plana, Maria J. Bullido, Elisabet Vilella, Josep Ribalta
Summary: This study identified three variants in PVRL2 that predispose individuals to Alzheimer's disease (AD) while also influencing the lipid profile, increasing cardiovascular risk in patients with type 2 diabetes mellitus (T2DM).
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Neurosciences
Laura Vilar-Ribo, Judit Cabana-Dominguez, Lourdes Martorell, Josep Antoni Ramos-Quiroga, Sandra Sanchez-Roige, Abraham A. Palmer, Elisabet Vilella, Marta Ribases, Gerard Muntane, Maria Soler Artigas
Summary: There is evidence linking ADHD to reduced life expectancy. Individuals with ADHD have a higher mortality rate, which may be caused by unhealthy lifestyle behaviors, social adversity, and mental health problems. The study found a negative genetic correlation between ADHD and parental lifespan, indicating a common genetic background. These findings highlight the importance of ADHD as a health condition that can negatively affect lifespan and future life outcomes.
NEUROPSYCHOPHARMACOLOGY
(2023)
Article
Psychiatry
Irene Moreno, Alexander Stojanovic-Perez, Bengisu Bulduk, Vanessa Sanchez-Gistau, Maria Jose Algora, Laura Ortega, Gerard Muntane, Elisabet Vilella, Javier Labad, Lourdes Martorell
Summary: This study examined the relationship between the single nucleotide polymorphism rs6265C > T and the protein levels of brain-derived neurotrophic factor (BDNF), and found that the rs6265 genotype was associated with differential blood mRNA expression of BDNF. Additionally, in the early stages of psychosis, BDNF mRNA levels were correlated with inflammatory markers (IL6 mRNA levels and NLR).
JOURNAL OF PSYCHIATRIC RESEARCH
(2023)
Article
Psychiatry
Gerard Muntane, Javier Vazquez-Bourgon, Ester Sada, Lourdes Martorell, Sergi Papiol, Elena Bosch, Arcadi Navarro, Benedicto Crespo-Facorro, Elisabet Vilella
Summary: Individuals with a first episode of psychosis experience rapid weight gain in the initial months of treatment, which is influenced by genetics. Genetic factors play a significant role in determining weight gain during the first episode of psychosis, highlighting the importance of genetic pleiotropy in predicting future outcomes.
EUROPEAN PSYCHIATRY
(2023)
Article
Clinical Neurology
Alexandre Gonzalez-Rodriguez, Jose Haba-Rubio, Judith Usall, Mentxu Natividad, Virginia Soria, Javier Labad, Jose A. Monreal
Summary: While the early identification of insomnia in patients with schizophrenia is important, the use of specific compounds for treating insomnia in postmenopausal women with schizophrenia has been understudied. Melatonin treatment has shown positive effects on sleep quality and efficiency in patients with schizophrenia, but its use in postmenopausal women with schizophrenia is not well explored. The dysregulation of estrogen and progesterone pathways is observed in major psychiatric disorders like schizophrenia. Future research should investigate the effectiveness of hormonal compounds in treating insomnia in postmenopausal women with schizophrenia.