Article
Genetics & Heredity
Elena Bernabeu, Oriol Canela-Xandri, Konrad Rawlik, Andrea Talenti, James Prendergast, Albert Tenesa
Summary: Sex-stratified GWAS analyses of 530 traits within 452,264 individuals of European ancestry from the UK Biobank provide insights into the scope of genotype by sex interactions and the genetics of sex differences. Small yet widespread differences in genetic architecture across traits were found, emphasizing the importance of considering sex-aware analyses in future studies to understand sex-specific molecular mechanisms.
Article
Medicine, General & Internal
Di Yang, Yafen Ye, Yinfang Tu, Rongrong Xu, Yunfeng Xiao, Hongwei Zhang, Weijie Liu, Pin Zhang, Haoyong Yu, Yuqian Bao, Junfeng Han
Summary: This study aimed to investigate the sex-specific changes in bone mineral density (BMD) following sleeve gastrectomy and evaluate the role of sex hormone-binding globulin (SHBG) in this process. The results showed significant differences in BMD changes between sexes, with men having a greater reduction in total hip BMD and less increase in SHBG after sleeve gastrectomy than women. SHBG was significantly associated with total hip BMD loss in men, while total estrogen was significantly associated with total hip BMD loss in women. These findings suggest the importance of sex-specific screening for personalized postoperative bone care in this population.
FRONTIERS IN MEDICINE
(2022)
Editorial Material
Biochemistry & Molecular Biology
John F. Y. Brookfield
Summary: The study investigates the number of genes controlling a specific trait in fruit flies and whether the genes with defined knockout phenotypes affecting the trait are the same genes underlying population-wide variation.
Article
Biochemistry & Molecular Biology
Marwan Elkrewi, Mikhail A. Moldovan, Marion A. L. Picard, Beatriz Vicoso
Summary: This study characterizes the gene content and evolution of the W-chromosomes in Schistosoma mansoni and S. japonicum. W-linked genes show evidence of degeneration, with high rates of protein evolution and reduced expression, mainly located in young lineage-specific strata. The splicing factor u2af2 is highlighted as a potential candidate for primary sex determination.
MOLECULAR BIOLOGY AND EVOLUTION
(2021)
Article
Cardiac & Cardiovascular Systems
Brian A. Aguado, Cierra J. Walker, Joseph C. Grim, Megan E. Schroeder, Dilara Batan, Brandon J. Vogt, Andrea Gonzalez Rodriguez, Jessica A. Schwisow, Karen S. Moulton, Robert M. Weiss, Donald D. Heistad, Leslie A. Leinwand, Kristi S. Anseth
Summary: Aortic valve stenosis, a condition that affects the aortic valve, has sex differences with women presenting with sustained fibrosis and men with more extensive calcification. This study examined the intracellular molecular mechanisms that drive these sex differences by using a hydrogel culture system and found that sex-specific valvular interstitial cells had different responses to microenvironmental cues, suggesting the importance of considering sex as a biological variable in understanding and treating aortic valve stenosis.
Article
Endocrinology & Metabolism
Tessa N. A. Slagboom, Christa C. van Bunderen, Aart Jan van der Lely, Madeleine L. Drent
Summary: This study investigated the differences in the outcomes of growth hormone replacement therapy (GHRT) between growth hormone deficient (GHD) men and women. The results showed that women were more likely to have subnormal insulin-like growth factor-1 (IGF-1) levels during treatment and experienced more adverse events, requiring dose reduction or temporary stoppage of GHRT. Men had a higher risk of developing malignant neoplasms. This suggests that women with GHD may not be receiving optimal treatment and have lower tolerability of GHRT, but it does not imply discontinuation of treatment.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Neurosciences
Aurina Arnatkeviciute, Ben D. Fulcher, Mark A. Bellgrove, Alex Fornito
Summary: The integration of modern neuroimaging methods with genetically informative designs and data sheds light on the molecular mechanisms underlying the structural and functional organization of the human connectome. Studies investigating the genetic basis of human brain network structure and function through quantifying phenotypic heritability, identifying specific DNA variants, and analyzing correlations between imaging phenotypes and gene expression profiles show that anatomical connectivity is under stronger genetic influence than functional connectivity, with certain regions and connections being more genetically controlled than others. This combination of imaging and genetics can help understand how genes drive brain dysfunction in different clinical disorders.
Review
Cardiac & Cardiovascular Systems
Jerome Robert
Summary: Endothelial cells are crucial for vascular homeostasis and play a vital role in controlling blood flow, immune cell trafficking, and vascular growth and repair. Dysfunction of endothelial cells, characterized by impaired secretion of vasodilator molecules, increased reactive oxygen species, expression of adhesion molecules, and secretion of proinflammatory cytokines, leads to cardiovascular diseases. Sex hormones, such as estrogens, androgens, and progestogens, regulate endothelial functions. However, gender also influences endothelial cell physiology at the genetic level.
Article
Cell Biology
Huan Li, Weibo Jiang, Shui Liu, Manshi Yang, Siyuan Chen, Yihan Pan, Mengying Cui
Summary: Sex differences in cancer incidence and survival are constant and pronounced globally, and researchers have started focusing on the molecular mechanisms behind these differences. Besides sex hormones, genetic and molecular pathways also play a role in cancer development and treatment response. Clarifying the essential mechanisms of gender differences will guide the clinical treatment of both sexes in cancer therapy.
MOLECULAR AND CELLULAR BIOCHEMISTRY
(2023)
Article
Biochemistry & Molecular Biology
Xiaoting Zhang, Hao Liu, Lijie Huang, Biyan Zhou
Summary: This study investigates the response of litchi plants to chilling stress by analyzing the physiological and biochemical changes and constructing RNA-Seq libraries. A total of 2496 chilling-responsive genes were identified, including genes related to the antioxidant system, plant hormone signaling, and transcription factor encoding. The study also proposes a model for litchi plants' response to chilling stress based on the RNA-Seq data.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Cell Biology
Jonathan K. L. Mak, Chandra A. Reynolds, Sara Hagg, Xia Li, Malin Ericsson, Nancy L. Pedersen, Juulia Jylhava, Ralf Kuja-Halkola
Summary: The study found that the heritability of frailty is slightly higher in women than in men, with no significant difference in genetic variance sources between the sexes. There is a small-to-moderate genetic overlap between frailty and BMI, while the correlation between frailty and education is largely influenced by common environmental factors among twins.
Article
Multidisciplinary Sciences
Yingbo Huang, Yuting Shan, Weijie Zhang, Adam M. Lee, Feng Li, Barbara E. Stranger, R. Stephanie Huang
Summary: Sex differences in human health have been widely observed, but the underlying mechanisms remain poorly understood. This study focuses on the interaction between drug metabolism enzymes and transporters genes and sex in complex human traits, revealing sex-differentiated genetic effects on gene expression, serum biomarkers, and drug metabolism. The findings shed light on the causes of sex differences in disease prevalence and treatment outcomes.
NATURE COMMUNICATIONS
(2023)
Review
Biochemistry & Molecular Biology
Jacob Taylor, Ymkje Anna de Vries, Hanna M. van Loo, Kenneth S. Kendler
Summary: Genome-wide studies are important for understanding the etiology of psychiatric disorders. This study systematically reviewed existing literature and found that early age of onset, negative/deficit symptoms, chronicity, and functional impairment were associated with genetic/familial risk for non-affective psychotic disorders. Female patients also tended to have more affected relatives. Severity of positive symptoms was not associated with genetic/familial risk for schizophrenia. The study suggests that measuring phenotypes with the most evidence for reflecting genetic differences can improve the discovery of causal and modifying genetic variants in large-scale genetic studies of schizophrenia.
MOLECULAR PSYCHIATRY
(2023)
Article
Biotechnology & Applied Microbiology
Yong Li, Yu-Tao Si, Yan-Xia He, Jia-Xin Li
Summary: By using physiological indicator detection and comparative transcriptome sequencing, this study identified drought-responsive and -adaptive genes in P. stenoptera, indicating an increase in gene expression of unsaturated fatty acids, tyrosine, and plant pathogen resistance in response to drought stress. Additionally, the study revealed the different adaptation mechanisms of P. stenoptera under transient and long-term differential drought stresses.
Article
Genetics & Heredity
Martin Jinye Zhang, Kangcheng Hou, Kushal K. Dey, Saori Sakaue, Karthik A. Jagadeesh, Kathryn Weinand, Aris Taychameekiatchai, Poorvi Rao, Angela Oliveira Pisco, James Zou, Bruce Wang, Michael Gandal, Soumya Raychaudhuri, Bogdan Pasaniuc, Alkes L. Price
Summary: scDRS is a method that links scRNA-seq with polygenic disease risk at single-cell resolution, independent of annotated cell types. It identifies cells exhibiting excess expression of disease-associated genes implicated by GWASs and identifies specific cellular subpopulations associated with diseases.
Article
Biochemistry & Molecular Biology
G. Desachy, L. A. Croen, A. R. Torres, M. Kharrazi, G. N. Delorenze, G. C. Windham, C. K. Yoshida, L. A. Weiss
MOLECULAR PSYCHIATRY
(2015)
Article
Genetics & Heredity
Michela Traglia, Dina Bseiso, Alexander Gusev, Brigid Adviento, Daniel S. Park, Joel A. Mefford, Noah Zaitlen, Lauren A. Weiss
Review
Biochemical Research Methods
Erika Yeh, Lauren A. Weiss
MOLECULAR AND CELLULAR PROBES
(2016)
Article
Genetics & Heredity
Ileena Mitra, Kathryn Tsang, Christine Ladd-Acosta, Lisa A. Croen, Kimberly A. Aldinger, Robert L. Hendren, Michela Traglia, Alinoe Lavillaureix, Noah Zaitlen, Michael C. Oldham, Pat Levitt, Stanley Nelson, David G. Amaral, Irva Herz-Picciotto, M. Daniele Fallin, Lauren A. Weiss
Article
Genetics & Heredity
Michela Traglia, Lisa A. Croen, Kristen Lyall, Gayle C. Windham, Marty Kharrazi, Gerald N. DeLorenze, Anthony R. Torres, Lauren A. Weiss
G3-GENES GENOMES GENETICS
(2017)
Article
Genetics & Heredity
Ileena Mitra, Alinoe Lavillaureix, Erika Yeh, Michela Traglia, Kathryn Tsang, Carrie E. Bearden, Katherine A. Rauen, Lauren A. Weiss
Letter
Genetics & Heredity
Olivia Young, Shriya Perati, Lauren A. Weiss, Katherine A. Rauen
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2018)
Article
Genetics & Heredity
Varoona Bizaoui, Jessica Gage, Rita Brar, Atherine A. Rauen, Lauren A. Weiss
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
(2018)
Review
Developmental Biology
Aditi Deshpande, Lauren A. Weiss
DEVELOPMENTAL NEUROBIOLOGY
(2018)
Article
Biochemistry & Molecular Biology
Ye Cheng, Jeffrey Francis Quinn, Lauren Anne Weiss
HUMAN MOLECULAR GENETICS
(2013)
Article
Genetics & Heredity
Brigid Adviento, Iris L. Corbin, Felicia Widjaja, Guillaume Desachy, Nicole Enrique, Tena Rosser, Susan Risi, Elysa J. Marco, Robert L. Hendren, Carrie E. Bearden, Katherine A. Rauen, Lauren A. Weiss
JOURNAL OF MEDICAL GENETICS
(2014)
Article
Genetics & Heredity
Michela Traglia, Lisa A. Croen, Karen L. Jones, Luke S. Heuer, Robert Yolken, Martin Kharrazi, Gerald N. DeLorenze, Paul Ashwood, Judy Van de Water, Lauren A. Weiss
Article
Genetics & Heredity
Michela Traglia, Gayle C. Windham, Michelle Pearl, Victor Poon, Darryl Eyles, Karen L. Jones, Kristen Lyall, Martin Kharrazi, Lisa A. Croen, Lauren A. Weiss
Article
Genetics & Heredity
Mikhail Vysotskiy, Lauren. A. Weiss
Summary: This study investigates the association of copy number variants (CNVs) at 16p11.2 and 22q11.2 with neurobehavioral traits and finds that pairs of genes explain trait variance better than single genes in most cases. Specific genes contribute disproportionately to traits in pairs, but not individually. Additionally, the 16p11.2 and 22q11.2 regions have a significant effect on BMI and IQ. The findings indicate that the genetic architecture of CNV-trait associations is multigenic and may vary across CNVs and traits.