Explanipedia

Automated Online Speech Analytics Reveal Language and Affective Changes in Parkinson’s Disease Open

Fangyuan Cao, Kerrie McAloney, Kishore R. Kumar, Nicholas G. Martin, Puya Gharahkhani , et al. · 2025

Speech-related changes hold promise as biomarkers in Parkinson’s disease (PD), yet evidence remains preliminary and higher-order language alterations are under-characterised. Leveraging data from 1,168 participants with PD and 541 controls…

Unravelling the causal link between gut microbiota and acne risk using a genetic approach Open

Fangyuan Cao, Natalia Ogonowski, Santiago Díaz‐Torres, Brittany L. Mitchell, Puya Gharahkhani , et al. · 2025

Background Acne is a common inflammatory dermatological condition that can have detrimental psychological consequences due to its visible lesions and scarring. Recent studies suggest a potential role of gut microbiota in acne development; …

Genetic Overlap Between DSM-IV Major Depressive Disorder and Suicidal Behaviors: Evidence from Polygenic Risk Scores in Young Adult Twins Open

Nathan A. Gillespie, Mei-Hsin Su, Séverine Lannoy, Mallory Stephenson, Miguel E. Rentería , et al. · 2025

Suicidal thoughts and behaviors (STBs) represent a significant public health concern. This study aimed to examine the extent to which polygenic risk scores (PRSs) for suicide attempt and major depression (MD) explain variance in suicidal i…

Miguel E. Rentería: At the intersection of genomics, neuroscience, and big data Open

Miguel E. Rentería · 2025

Dr Miguel E. Rentería illuminates our understanding of brain disorders through groundbreaking computational neurogenomics research that promises personalized treatments for millions worldwide. This inspiring Genomic Press Interview reveals…

Insights into ancestral diversity in Parkinson’s disease risk: a comparative assessment of polygenic risk scores Open

Paula Saffie Awad, Spencer Grant, Mary B. Makarious, Inas Elsayed, Arinola O. Sanyaolu , et al. · 2025

Risk prediction models play a crucial role in advancing healthcare by enabling early detection and supporting personalized medicine. Nonetheless, polygenic risk scores (PRS) for Parkinson’s disease (PD) have not been extensively studied ac…

Genome-wide association meta-regression identifies stem cell lineage orchestration as a key driver of acne risk Open

Jessye Maxwell, Brittany L. Mitchell, Xinyi Du-Harpur, Luba M. Pardo, Willemijn C. A. M. Witkam , et al. · 2025

Over 85% of the population experience acne at some point in their lives, with its severity spanning a quantitative spectrum, from mild, transient outbreaks to more persistent, severe forms of the condition. Moderate to severe disease poses…

O10 Acne polygenic risk score derived from genome-wide association metaregression enables prediction of severity Open

Xinyi Du-Harpur, Jessye Maxwell, Brittany L. Mitchell, Luba M. Pardo, Willemijn C. A. M. Witkam , et al. · 2025

Acne vulgaris is highly prevalent, with 85% of the population experiencing it at some point in their lives. Disease severity spans a quantitative spectrum, from mild, transient outbreaks to more persistent, severe forms of the condition. M…

Shared Genetic Architecture Between Parkinson’s Disease and Sleep-Related Traits Implicates theMAPTLocus on Chromosome 17 Open

Aura Aguilar-Roldán, Miguel E. Rentería, Luis M. García‐Marín · 2025

Parkinson’s disease (PD) is a neurodegenerative disorder characterised by both motor and non-motor symptoms. Among the latter, sleep disturbances are particularly common and include insomnia, obstructive sleep apnoea, excessive daytime sle…

Genetic exploration of the relationship between liability to psychiatric disorders and acne vulgaris Open

Brittany L. Mitchell, Michelle K. Lupton, Miguel E. Rentería, Michael A. Simpson, William R. Reay · 2025

Background Observational epidemiology suggests a link between the dermatological disorder acne vulgaris and several psychiatric disorders. However, the biological mechanisms that underlie the relationship between acne and mental health are…

Proteomic and genetic insights into ancestry-specific associations in Parkinson’s disease Open

Wei Yin Lim, Jia Nee Foo, Elaine Guo Yan Chew, Shen‐Yang Lim, Ai Huey Tan , et al. · 2025

Genome-wide association studies of Parkinson’s disease (PD) have identified multiple genetic variants across populations, but the biological mechanisms remain largely unknown. To investigate ancestry-specific disease pathways, we performed…

Insights from a nationwide study of 10,929 Australians living with Parkinson’s disease: Risk factors, comorbidities, and sex differences Open

Fangyuan Cao, Kerrie McAloney, Natalia Ogonowski, Luis M. García‐Marín, Santiago Díaz‐Torres , et al. · 2025

Summary Background Parkinson’s disease (PD) is a complex neurodegenerative condition with a heterogeneous clinical presentation and multifactorial aetiology. Despite substantial progress in PD research, the underlying causes and biological…

Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson’s Disease Open

Victor Flores‐Ocampo, Wei Yin Lim, Natalia Ogonowski, Luis M. García‐Marín, Jue‐Sheng Ong , et al. · 2025

Background: Parkinson’s disease (PD) is a genetically complex neurodegenerative disorder. Up to 15% of cases are considered monogenic. However, research on monogenic PD has largely focused on populations of European ancestry, leaving gaps …

The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population Open

Lara M. Lange, Kristin Levine, Susan H. Fox, Connie Marras, Nazish Rafique , et al. · 2025

Speech and language biomarkers for Parkinson’s disease prediction, early diagnosis and progression Open

Fangyuan Cao, Adam P. Vogel, Puya Gharahkhani, Miguel E. Rentería · 2025

Sex differences in the diagnosis latency of Parkinson's disease in Latin America Open

Janvi Ramchandra, Miguel Inca‐Martinez, Thiago Peixoto Leal, Henry Mauricio Chaparro‐Solano, Amira Salim , et al. · 2025

Our results suggest that there may be country and age dependent sex differences in AAO, AAD, and diagnosis latency of PD in Latin America. Interestingly, the mean AAO of LARGE-PD is approximately 6 years younger than studies done with Euro…

The role of lipid metabolism in acne risk: integrating blood metabolite and genetic insights Open

Mingjuan Liu, Santiago Díaz‐Torres, Brittany L. Mitchell, Deborah Toledo‐Flores, Puya Gharahkhani , et al. · 2025

Background Acne vulgaris is a chronic inflammatory skin condition that significantly impacts an individual's quality of life, affecting social interactions, self-esteem and body image. It primarily targets the pilosebaceous unit, where inf…

CD8+T cells mediate vaccination-induced lymphatic containment of latent Mycobacterium tuberculosis infection following immunosuppression, while B cells are dispensable Open

Socorro Miranda‐Hernandez, Manoharan Kumar, Alec Henderson, E. Scott Graham, Xiao Tan , et al. · 2025

It is estimated that two billion people are latently infected with Mycobacterium tuberculosis ( Mtb ), the causative agent of tuberculosis (TB). Latent Mtb infection (LTBI) can occur in multiple organs, including the lymphatics. The risk o…

Quality of life disparities among Mexican people with systemic lupus erythematosus Open

Ana Laura Hernández-Ledesma, Domingo Martínez, Elizabeth Fajardo-Brigido, Talía V. Román-López, Karen J. Nuñez-Reza , et al. · 2025

Higher prevalence and worst outcome have been reported among people with systemic lupus erythematosus with non-European ancestries, with both genetic and socioeconomic variables as contributing factors. In Mexico, studies assessing the ine…

Genetic analysis of APOE reveals distinct origins and distribution of ancestry-enrichment haplotypes in the Mexican Biobank Open

Carmina Barberena-Jonas, Victor Flores‐Ocampo, Natalia Ogonowski, Stefanie Danielle Piña‐Escudero, Ignácio F. Mata , et al. · 2025

Genome-wide meta-analyses of non-response to antidepressants identify novel loci and potential drugs Open

Elise Koch, Tuuli Jürgenson, Guðmundur Einarsson, Brittany L. Mitchell, Arvid Harder , et al. · 2024

Antidepressants exhibit a considerable variation in efficacy, and increasing evidence suggests that individual genetics contribute to antidepressant treatment response. Here, we combined data on antidepressant non-response measured using r…

“Polygenic Genetic Risk Factors in Alzheimer’s Disease: A Case‐Control Study in Peruvian Population” Open

Jonathan Zegarra-Valdivia, Harold Alessandro Arana‐Nombera, Leandro Aron Perez‐Fernandez, Milagros del Rocio Casimiro‐Arana, Reyna Elizabeth Alamo‐Medina , et al. · 2024

Background Alzheimer’s Disease (AD) is the most prevalent form of dementia globally. While some familial cases are observed, sporadic AD cases are more common and reflect a high level of complexity, with individual risk determined by the i…

Uncovering genetic loci and biological pathways associated with age-related cataracts through GWAS meta-analysis Open

Santiago Díaz‐Torres, Samantha Sze‐Yee Lee, Luis M. García‐Marín, Adrián I. Campos, Gareth Lingham , et al. · 2024

Age-related cataracts is a highly prevalent eye disorder that results in the clouding of the crystalline lens and is one of the leading causes of visual impairment and blindness. The disease is influenced by multiple factors including gene…

Recent Breakthroughs in Genetic and Brain Structural Correlates of Suicidal Behaviors: A Short Review Open

Zuriel Ceja, Laura S. van Velzen, Adrián I. Campos, Neda Jahanshad, Sarah E. Medland , et al. · 2024

Suicide accounts for more than 700,000 deaths annually and is the fourth leading cause of death among individuals aged 15 to 29 years. Despite years of research to understand the etiology and pathophysiology of suicidal behavior, many ques…

Genome-wide meta-analyses of non-response to antidepressants identify novel loci and potential drugs Open

Elise Koch, Tuuli Jürgenson, Guðmundur Einarsson, Brittany L. Mitchell, Arvid Harder , et al. · 2024

Antidepressants exhibit a considerable variation in efficacy, and increasing evidence suggests that individual genetics contribute to antidepressant treatment response. Here, we combined data on antidepressant non-response measured using r…

Building national patient registries in Mexico: insights from the MexOMICS Consortium Open

Paula Reyes‐Pérez, Ana Laura Hernández-Ledesma, Talía V. Román-López, Brisa García‐Vilchis, Diego Ramírez-González , et al. · 2024

Objective To introduce MexOMICS, a Mexican Consortium focused on establishing electronic databases to collect, cross-reference, and share health-related and omics data on the Mexican population. Methods Since 2019, the MexOMICS Consortium …

Pooled genetic screens identify breast cancer risk genes involved in evasion from T cell-mediated killing Open

Wei Shi, Yi Luo, Jacqueline M. Burrows, Debra Black, Andrew Civitarese , et al. · 2024

Genome-wide association studies have identified more than 220 loci associated with breast cancer susceptibility. A major challenge is now to identify the effector genes with plausible functions in the context of breast cancer risk. We have…

Fighting plastic pollution with a circular economy roadmap and strategy: Addressed to the United Nations Environment Programme Open

Luis M. García‐Marín, Miguel E. Rentería · 2024

Plastic pollution poses a significant challenge to the environment, biodiversity, and human health. Each year, the world produces 300 million tons of plastic waste, equivalent to the weight of the planet's entire human population. Only 9% …

Impact of genetic predisposition to late-onset neurodegenerative diseases on early life outcomes and brain structure Open

Natalia Ogonowski, Luis M. García‐Marín, Amali S. Fernando, Victor Flores‐Ocampo, Miguel E. Rentería · 2024

Most patients with late-onset neurodegenerative diseases such as Alzheimer’s and Parkinson’s have a complex aetiology resulting from numerous genetic risk variants of small effects located across the genome, environmental factors, and the …

TwinsMX: Exploring the Genetic and Environmental Influences on Health Traits in the Mexican Population Open

Brisa García‐Vilchis, Talía V. Román-López, Diego Ramírez-González, Xanat J. López-Camaño, Vanessa Murillo-Lechuga , et al. · 2024

TwinsMX registry is a national research initiative in Mexico that aims to understand the complex interplay between genetics and environment in shaping physical and mental health traits among the country’s population. With a multidisciplina…

Investigating the Shared Genetic Etiology Between Parkinson’s Disease and Depression Open

Paula Reyes‐Pérez, Luis M. García‐Marín, Asma M. Aman, Tarek Antar, Victor Flores‐Ocampo , et al. · 2024

Background: Depression is a common symptom in Parkinson’s disease (PD), resulting from underlying neuropathological processes and psychological factors. However, the extent to which shared genetic risk factors contribute to the relationshi…

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