Article
Pediatrics
Anita Mandal, Priyanka Khandelwal, Thenral S. Geetha, Sakthivel Murugan, Jitendra Meena, Manisha Jana, Aditi Sinha, Rajeev Kumar, Amlesh Seth, Pankaj Hari, Arvind Bagga
Summary: This study evaluated the metabolic and genetic abnormalities in children with nephrolithiasis in North India. The most common metabolic abnormalities were hypercalciuria and hyperoxaluria, and a monogenic etiology was identified in some patients. These findings suggest that a combination of metabolic and genetic evaluation is useful for determining the etiology of nephrolithiasis.
INDIAN JOURNAL OF PEDIATRICS
(2022)
Article
Multidisciplinary Sciences
Sana Rafaqat, Jaida Manzoor, Rimsha Akhter, Zain Ishaque, Asifa Kamal, Faiza Saleem, Rasheeda Bashir
Summary: This study found a strong genetic association between PTPN22 gene polymorphisms rs2476601 and rs1310182 and type 1 diabetes in Pakistani children.
JOURNAL OF KING SAUD UNIVERSITY SCIENCE
(2023)
Article
Pediatrics
Neveen T. Abed, Ismail A. Ramadan, Shuzan A. Mohammed, Eman M. El-Shanawany
Summary: The study revealed a strong association between IL1RN VNTR and T1DM in Egyptian children. Protective factors included the A1A1 genotype, LL genotype, A1 allele, and L allele, while risk factors included the A1A2 and LS genotypes, short (S), and A2 alleles. Plasma IL1RN level was significantly decreased in T1DM patients, especially in those with the LS genotype. Low IL1RN protein level in T1DM patients could be a potential target for future IL1RN medication therapy.
PEDIATRIC RESEARCH
(2022)
Article
Cardiac & Cardiovascular Systems
Mindy M. M. Pike, Jonathan Schildcrout, Scott Baldwin, Todd Edwards, Loren Lipworth, Cassianne Robinson-Cohen
Summary: This study identified genetic variants associated with blood pressure in childhood and adolescence through candidate SNP analysis and genome-wide association study, providing evidence for age-specific genetic associations with blood pressure.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
Article
Biochemistry & Molecular Biology
Mohamed E. Elhadidy, Ayman Kilany, Ola Hosny Gebril, Neveen Hassan Nashaat, Hala M. Zeidan, Amal Elsaied, Adel F. Hashish, Ehab Ragaa Abdelraouf
Summary: This study investigated the presence of the brain-derived neurotrophic factor (BDNF) val66Met polymorphism in a group of children with specific learning disorder (LD) and its impact on their cognitive abilities. The results showed that children with LD who carried the Met allele had a higher frequency of deficits in reading, writing, and phonemic segmentation compared to non-Met allele carriers. This suggests that the Val66Met polymorphism acts as a genetic modifier of learning performance in some children with specific learning disorder (developmental dyslexia).
JOURNAL OF MOLECULAR NEUROSCIENCE
(2023)
Article
Immunology
Jie Song, Yedan Liu, Ya Guo, Zhenghai Qu, Peipei Liu, Fei Li, Chengqing Yang, Fan Fan, Zongbo Chen
Summary: The TMEM173 rs7447927 polymorphism is associated with susceptibility and severity of EV71 infection. The G allele and GG genotype are risk factors for severe EV71 infection in Chinese children. Severely infected patients with the GG genotype have higher levels of WBC, CRP, BG, longer fever duration, higher vomiting frequency, spirit changes, and EEG abnormalities. The IFN-alpha concentration is significantly higher in severely infected patients compared to mildly infected patients, and it is also higher in patients with the GG genotype compared to the GC and CC genotypes in severe cases.
IMMUNITY INFLAMMATION AND DISEASE
(2022)
Article
Environmental Sciences
Viviana Ramirez, Inmaculada Salcedo-Bellido, Lourdes Rodrigo, Fernando Gil Hernandez, Pablo Olmedo, Luis Javier Martinez-Gonzalez, Maria Jesus Alvarez-Cubero, Ana Rivas
Summary: Exposure to metal(loid)s during critical developmental windows can cause permanent damage to organs, increasing disease vulnerability later in life. This study aimed to examine the effect of metal(loid) exposure on the association between gene variations related to metal(loid) detoxification and excess body weight in children. The study included 134 Spanish children, and genetic variations and metal(loid) levels in urine samples were analyzed. The results showed an interaction between the GSTP1 rs1695 and ATP7B rs1061472 variants and excess body weight.
SCIENCE OF THE TOTAL ENVIRONMENT
(2023)
Article
Pediatrics
Sigal Eilat-Adar, Eias Kassem, Mahmood Sindiani, Sigal Ben-Zaken
Summary: Both the IGF1 axis and hypovitaminosis D are involved in childhood obesity, and genetic scores associated with elevated IGF1 may indicate a tendency towards hypovitaminosis D-related obesity.
Article
Endocrinology & Metabolism
Yuanyuan Wang, Li Zhang, Lu Wu, Ruiyao Cao, Xingwang Peng, Lianguo Fu
Summary: This study analyzed the association between FNDC5 and PGC-1 alpha gene variants and overweight or obesity in Chinese children and adolescents. The results showed that the GT genotype of FNDC5 (rs16835198) increased the risk of overweight or obesity in boys, while the GG genotype decreased the risk in girls and boys. There was also significant interaction between FNDC5 and PGC-1 alpha genes, as well as healthy eating behaviors and physical activity time.
DIABETES METABOLIC SYNDROME AND OBESITY
(2023)
Article
Multidisciplinary Sciences
Sana Rafaqat, Jaida Manzoor, Maria Adrees, Hafsa Hamid, Asifa Kamal, Rasheeda Bashir
Summary: The present study investigated the relationship between STAT4 single nucleotide polymorphisms (SNPs) and T1D susceptibility in a Pakistani population. The results showed that the GT genotype of rs7574685, the GC genotype of rs10181656, and the GA genotype of rs3821236 were associated with an increased risk of T1D. Furthermore, genetic models analysis revealed the significant risk association of the STAT4 GG genotype of rs7574685, the GC genotype of rs10181656, and the AA genotype of rs3821236 with T1D. The study concluded that the STAT4 variants of rs7574685 and rs10181656 are highly correlated with the risk of T1D in Pakistani children.
Article
Clinical Neurology
Aster V. E. Harder, Bendik S. Winsvold, Raymond Noordam, Lisanne S. Vijfhuizen, Sigrid Borte, Lisette J. A. Kogelman, Irene de Boer, Erling Tronvik, Frits R. Rosendaal, Ko Willems van Dijk, Emer O'Connor, Carmen Fourier, Laurent F. Thomas, Espen S. Kristoffersen, Rolf Fronczek, Patricia Pozo-Rosich, Rigmor H. Jensen, Michel D. Ferrari, Thomas F. Hansen, John-Anker Zwart, Gisela M. Terwindt, Arn M. J. M. van den Maagdenberg
Summary: This study identified and replicated genetic risk loci for cluster headaches with effect sizes greater than typical for complex genetic disorders. RNA-sequencing indicated differential expression of POLR1B and TMEM87B in cluster headache patients, suggesting potential biological mechanisms underlying the disease.
ANNALS OF NEUROLOGY
(2021)
Article
Oncology
Silvia Selene Moreno-Guerrero, Arturo Ramirez-Pacheco, Luz Maria Rocha-Ramirez, Gabriela Hernandez-Pliego, Pilar Eguia-Aguilar, Maria Argelia Escobar-Sanchez, Alfonso Reyes-Lopez, Luis Enrique Juarez-Villegas, Juan Jose Luis Sienra-Monge
Summary: Neuroblastoma (NB) is a heterogeneous disease with varying characteristics, and genetic variants of cytokines such as IL-6 and IL-8 may influence tumor progression and metastasis. Elevated levels of IL-6 and IL-8 could potentially serve as biomarkers for predicting poor outcomes in NB patients. The study suggests that genetic polymorphisms and serum levels of IL-6 and IL-8 play a significant role in the prognosis of NB patients, particularly in Mexican children.
Review
Biochemistry & Molecular Biology
Edyta Sienkiewicz-Szlapka, Ewa Fiedorowicz, Angelika Krol-Grzymala, Natalia Kordulewska, Dominika Rozmus, Anna Cieslinska, Andrzej Grzybowski
Summary: This article examines the etiology of diabetic retinopathy by screening chromosomes and genes, identifying specific genes and their polymorphisms that are closely related to the development of the disease. The collected data contribute to a comprehensive understanding of the disease and the selection of candidate genes as markers.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Plant Sciences
Melinda R. Grosser, Samantha K. Sites, Mayara M. Murata, Yolanda Lopez, Karen C. Chamusco, Kyra Love Harriage, Jude W. Grosser, James H. Graham, Fred G. Gmitter, Christine D. Chase
Summary: Plant genomes contain nuclear, plastid, and mitochondrial components which have different inheritance and evolutionary patterns. Genetic markers from these three genomes can be used to study inheritance, genetic relationships, and phenotypic contributions. Developing mitochondrial markers is challenging due to their high variability in size, gene order, and non-coding sequences, as well as their conservation in protein-coding sequences. PCR amplification of introns using conserved flanking exons is an effective method for developing polymorphic nuclear genome markers.
FRONTIERS IN PLANT SCIENCE
(2023)
Article
Pediatrics
Ze-Yue Xu, Hong-Li Guo, Ling Li, Min Zhang, Xia Jing, Ze-Jun Xu, Jin-Chun Qiu, Xiao-Peng Lu, Xuan-Sheng Ding, Feng Chen, Jing Xu
Summary: This study evaluated the factors contributing to plasma trough concentration-to-dose ratio of valproic acid in pediatric patients with epilepsy. The study found that dosage forms significantly affected the ratio, while genetic variants did not show significant association. The results suggest cautious consideration when switching between solution and sustained-release tablet forms of the medication.
FRONTIERS IN PEDIATRICS
(2021)
Letter
Clinical Neurology
Stefanie Smolders, Christine Van Broeckhoven
ACTA NEUROPATHOLOGICA
(2020)
Article
Biochemistry & Molecular Biology
Soraia Martins, Andreas Mueller-Schiffmann, Lars Erichsen, Martina Bohndorf, Wasco Wruck, Kristel Sleegers, Christine Van Broeckhoven, Carsten Korth, James Adjaye
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2020)
Letter
Clinical Neurology
Rita Cacace, Christine Van Broeckhoven
ACTA NEUROPATHOLOGICA
(2021)
Letter
Clinical Neurology
Stefanie Smolders, Christine Van Broeckhoven
ACTA NEUROPATHOLOGICA
(2021)
Article
Geriatrics & Gerontology
Julie Hoogmartens, Elisabeth Hens, Sebastiaan Engelborghs, Peter Paul De Deyn, Julie van der Zee, Christine Van Broeckhoven, Rita Cacace
Summary: Matrix metalloproteinases (MMPs) play a crucial role in neurological conditions, especially Alzheimer's disease. The study identified MMP13 as a promising candidate gene in the genetic etiology of AD, suggesting a gain-of-function disease mechanism for the missense mutations found in patients. Further functional experimental studies and genetic replication studies are needed to confirm these findings.
NEUROBIOLOGY OF AGING
(2021)
Article
Geriatrics & Gerontology
Liene Bossaerts, Elisabeth Hens, Bernard Hanseeuw, Rik Vandenberghe, Patrick Cras, Peter P. De Deyn, Sebastiaan Engelborghs, Christine Van Broeckhoven
Summary: The ABCA7 gene mutations, especially PTC mutations, are common in Belgian AD patients. They are enriched in LOAD and EOAD patients, and may be associated with a positive family history of disease.
NEUROBIOLOGY OF AGING
(2021)
Review
Genetics & Heredity
Federica Perrone, Rita Cacace, Julie van der Zee, Christine Van Broeckhoven
Summary: Over the past few decades, significant progress has been made in understanding the molecular etiology of neurodegenerative brain diseases, particularly with the use of next-generation sequencing technologies to accelerate gene discoveries. Large-scale genome-wide association studies have identified common genetic variants influencing disease risk and revealed new pathways underlying NBD pathogenesis. However, the importance and potential contributions of rare genetic variants in NBD research still hold many unknowns.
Article
Geriatrics & Gerontology
Alexandros Frydas, Rita Cacace, Julie van der Zee, Christine Van Broeckhoven, Eline Wauters
Summary: Genetic variants within the uORF regions of the GRN gene may alter PGRN expression levels and contribute to frontotemporal lobar degeneration. The functional uORFs present in the alternative 5' UTR act as potential regulators of PGRN expression, indicating a role for genetic variation in modulating gene function.
NEUROBIOLOGY OF AGING
(2022)
Review
Genetics & Heredity
Alexandros Frydas, Eline Wauters, Julie van der Zee, Christine Van Broeckhoven
Summary: Neurodegenerative brain diseases (NBDs) are characterized by cognitive decline and movement impairments caused by neuronal loss in different brain regions. Genome-wide association studies have identified novel disease risk loci, many of which are located in noncoding regions and contribute to disease pathogenesis. Understanding noncoding variants associated with NBDs can expand our knowledge of the genetic architecture of NBDs and provide new avenues for therapeutic strategies.
TRENDS IN GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Luisa Benussi, Antonio Longobardi, Cemile Kocoglu, Matteo Carrara, Sonia Bellini, Clarissa Ferrari, Roland Nicsanu, Claudia Saraceno, Cristian Bonvicini, Silvia Fostinelli, Roberta Zanardini, Marcella Catania, Matthieu Moisse, Philip Van Damme, Giuseppe Di Fede, Giuliano Binetti, Christine Van Broeckhoven, Julie van der Zee, Roberta Ghidoni
Summary: The study investigated genetic variability in the endo-lysosomal pathway among Alzheimer's disease, Frontotemporal Lobar Degeneration, and Lewy body disease patients, revealing disease-associated variants in genes like SORL1 and DNAJC6. This suggests a potential etiological link behind these neurodegenerative disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Paolo Abondio, Stefania Sarno, Cristina Giuliani, Valentina Lagana, Raffaele Maletta, Livia Bernardi, Francesco Bruno, Rosanna Colao, Gianfranco Puccio, Francesca Frangipane, Barbara Borroni, Christine Van Broeckhoven, Donata Luiselli, Amalia Bruni
Summary: The A713T mutation in the amyloid precursor protein has been linked to Alzheimer's disease and other conditions in the Calabria region of Southern Italy. Genetic analysis revealed that carriers of the mutation shared a common ancestor over 1000 years ago, despite not being closely related to each other or to healthy individuals in the region. This study demonstrates the value of population genomics in understanding genetic relationships and disease origins.
Article
Biochemistry & Molecular Biology
Evelien Van Schoor, Mathieu Vandenbulcke, Valerie Bercier, Rik Vandenberghe, Julie van der Zee, Christine Van Broeckhoven, Markus Otto, Bernard Hanseeuw, Philip Van Damme, Ludo Van den Bosch, Dietmar Rudolf Thal
Summary: This study reports a novel frameshift mutation in the TUBA4A gene in a patient with semantic variant of primary progressive aphasia, suggesting a potential loss-of-function pathogenic mechanism associated with frontotemporal lobar degeneration (FTLD). The findings support the idea that N-terminal TUBA4A mutations are linked to FTLD-TDP.
Article
Geriatrics & Gerontology
Cemile Koco, Raffaele Ferrari, Maxime Roes, Geert Vandeweyer, R. Frank Kooy, Christine Van Broeckhoven, Claudia Manzoni, Julie van der Zee
Summary: This study applied protein interaction network (PIN) analysis to prioritize candidate genes for frontotemporal dementia (FTD) and identified TNFAIP3 as a top gene associated with disrupted immune signaling in FTD. The integration of PINs with genetic data is a useful approach to increase the power for rare variant association analysis.
NEUROBIOLOGY OF AGING
(2022)
Article
Geriatrics & Gerontology
Eline Wauters, Helena Gossye, Alexandros Frydas, Anne Sieben, Christine Van Broeckhoven
Summary: By studying patient biomaterials, we discovered a novel mutation in the GRN gene that causes frontotemporal lobar degeneration. This mutation leads to aberrant splicing, resulting in the production of a faulty protein and degradation of mRNA. The significance of this study lies in unraveling the pathogenicity of unknown variants, which is crucial for clinical diagnosis and genetic counseling.
NEUROBIOLOGY OF AGING
(2023)
Review
Clinical Neurology
Julie Hoogmartens, Rita Cacace, Christine Van Broeckhoven
Summary: Early-onset Alzheimer's disease (EOAD) is often linked to dominant disease-causing mutations, but they only account for a small fraction of patients, and familial EOAD does not always show clear autosomal dominant inheritance. Studies suggest that factors beyond the amyloid beta pathway are also crucial in AD pathophysiology.
ALZHEIMER'S & DEMENTIA: DIAGNOSIS, ASSESSMENT & DISEASE MONITORING
(2021)