Article
Biochemistry & Molecular Biology
Paula Gonzalez Rojo, Cristina Perez Ramirez, Jose Maria Galvez Navas, Laura Elena Pineda Lancheros, Susana Rojo Tolosa, Maria del Carmen Ramirez Tortosa, Alberto Jimenez Morales
Summary: This study evaluated the association between VDR gene polymorphisms and the risk of cardiovascular diseases in a Caucasian population. The results showed that certain variations in the VDR gene are associated with increased risk of cardiovascular diseases, while others have no effect.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biotechnology & Applied Microbiology
Ahmed Ibrahim AbdElneam, Mohammed Saleh Al-Dhubaibi, Saleh Salem Bahaj, Ghada Farouk Mohammed
Summary: The study found that the T/t genotype of the TaqI polymorphism in the VDR gene is more common in psoriasis patients and is associated with higher levels of 25(OH)D. Patients with the T/t genotype have higher 25(OH)D levels compared to those with T/T and t/t genotypes, especially in moderate cases of the disease.
JOURNAL OF GENE MEDICINE
(2022)
Review
Infectious Diseases
Sonal Sekhar Miraj, Navya Vyas, Shilia Jacob Kurian, Tejaswini Baral, Levin Thomas, B. Shrikar Reddy, Murali Munisamy, Mithu Banerjee, Mahadev Rao
Summary: Tuberculosis (TB) is a global concern, and the association between vitamin D receptor (VDR) gene polymorphism and susceptibility to TB and response to treatment has been studied. The review also examines the impact of vitamin D supplementation on clinical and treatment outcomes in TB patients. While most studies do not support the benefits of supplementation, further research is needed to explore the interaction between VDR polymorphism, vitamin D status, and TB outcomes in different ethnic populations. Establishing this association can aid in the development of personalized medicine approaches to combat TB.
EXPERT REVIEW OF ANTI-INFECTIVE THERAPY
(2022)
Article
Nutrition & Dietetics
Pavel Marozik, Alena Rudenka, Katsiaryna Kobets, Ema Rudenka
Summary: This study demonstrated significant effects of VDR gene variants ApaI rs7975232, BsmI rs1544410, TaqI rs731236, and Cdx2 rs11568820 on bone mineral density, 25-hydroxyvitamin D level, and osteoporosis risk in Belarusian women. The findings suggest the importance of genetic markers for personalized medicine strategies.
Review
Pharmacology & Pharmacy
Carsten Carlberg, Eunike Velleuer
Summary: Low vitamin D status is a risk factor for colon, prostate, breast, and leukocyte cancers. Lifestyle adjustments can help control cancer risk. Vitamin D has anti-cancer effects on neoplastic cells and immune cells.
BIOCHEMICAL PHARMACOLOGY
(2022)
Article
Nutrition & Dietetics
Anna Markowska, Pawel Kurzawa, Wieslawa Bednarek, Anna Grybos, Marcin Mardas, Monika Krzyzaniak, Jan Majewski, Janina Markowska, Marian Grybos, Jakub Zurawski
Summary: Vitamin D deficiency is involved in the development of uterine fibroids. Supplementing with vitamin D can reduce the size of fibroids. Lower expression of VDR in fibroid tissue may indicate the potential for new fibroids.
Article
Biochemistry & Molecular Biology
Jiezhong Deng, Yusheng Yang, Jinyue He, Zhao Xie, Fei Luo, Jianzhong Xu, Zehua Zhang
Summary: This study demonstrates that activation of VDR by VD administration inhibits M. tuberculosis-induced bone destruction, suggesting that VD and VDR are potential therapeutic targets for this condition.
Review
Biochemistry & Molecular Biology
Alessandra Mirarchi, Elisabetta Albi, Tommaso Beccari, Cataldo Arcuri
Summary: Microglia, accounting for 5-20% of glial cells in the adult brain, have multiple functions in maintaining neural environment, responding to injury, and regulating immune response. They are involved in various neurological disorders and neurodegenerative diseases. Vitamin D3 (VD3) plays a role in the brain's pathophysiology, influencing neurotrophic and neuroprotective actions, neurotransmission, and synaptic plasticity. Studies have focused on the involvement of VD3 and microglia in neurodegeneration and aging-related diseases.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Pediatrics
Nancy M. S. Zeidan, Hanan M. Abd El Lateef, Dalia M. Selim, Suzan A. Razek, Ghada A. B. Abd-Elrehim, Mohamed Nashat, Noha ElGyar, Nevin M. Waked, Attia A. Soliman, Ahmed A. Elhewala, Mohamed M. M. Shehab, Ahmed A. A. Ibraheem, Hassan Shehata, M. Yousif Yousif, Nagwa E. Akeel, Mustafa I. A. Hashem, Amani A. Ahmed, Ahmed A. Emam, Mohamed M. Abdelmohsen, Mohamed F. Ahmed, Ahmed S. E. Saleh, Heba H. Eltrawy, Gehan H. Shahin, Rehab M. Nabil, Thoraya A. Hosny, Mohamed R. Abdelhamed, Mona R. Afify, Mohanned T. Alharbi, Mohammed K. Nagshabandi, Muyassar K. Tarabulsi, Sherif F. Osman, Amal S. M. Abd-Elrazek, Manal M. Rashad, Sonya A. A. El-Gaaly, Said A. B. Gad, Y. Mohamed Mohamed, Khalil Abdelkhalek, Aly A. Yousef
Summary: This study investigated whether vitamin D deficiency is a risk factor for susceptibility to COVID-19 in Egyptian children and adolescents. The results showed that low vitamin D levels and a specific genotype were significantly associated with increased risk for COVID-19.
PEDIATRIC RESEARCH
(2023)
Review
Nutrition & Dietetics
Ricardo Usategui-Martin, Daniel-Antonio De Luis-Roman, Jose Maria Fernandez-Gomez, Marta Ruiz-Mambrilla, Jose-Luis Perez-Castrillon
Summary: This study evaluated the impact of polymorphisms in the vitamin D receptor gene on the response to vitamin D supplementation through a systematic review and meta-analysis. The results suggest that the TaqI and FokI polymorphisms may play a role in modulating the response to vitamin D supplementation.
Article
Biology
Jose Manuel Garcia-Martinez, Ana Chocarro-Calvo, Javier Martinez-Useros, Maria Jesus Fernandez-Acenero, M. Carmen Fiuza, Jose Caceres-Rentero, Antonio De la Vieja, Antonio Barbachano, Alberto Munoz, Maria Jesus Larriba, Custodia Garcia Jimenez
Summary: Posttranslational modifications of epigenetic modifiers provide a mechanism for rapid adaptations in cancer cells. The study shows that 1,25(OH)(2)D-3 activates SIRT1 by auto-deacetylation in colon cancer cells, inhibiting cell proliferation.
Review
Nutrition & Dietetics
Carsten Carlberg
Summary: The vitamin D metabolite 1 alpha,25-dihydroxyvitamin D-3 acts as a ligand for the transcription factor vitamin D receptor (VDR), and regulates the expression of target genes through chromatin changes. VDR binds to genomic DNA and interacts with partner proteins.
Article
Biochemistry & Molecular Biology
Salah Gariballa, Ghada S. M. Al-Bluwi, Javed Yasin
Summary: A study on 277 healthy individuals in the United Arab Emirates found an association between vitamin D receptor gene polymorphisms and vitamin D levels. However, this association became non-significant after adjusting for clinical parameters that influence vitamin D levels. Additionally, no association was found between obesity and related pathologies and the vitamin D receptor gene polymorphisms.
Article
Pediatrics
Mahitab Morsy Hussein, Enas Maher Mohamed, Tarek Mostafa Kamal, Tharwat Ezzat Deraz
Summary: This case-control study found that the vitamin D receptor gene FokI polymorphism is associated with susceptibility to complicated community-acquired pneumonia in Egyptian children.
Article
Biochemistry & Molecular Biology
Susana Rojo-Tolosa, Noelia Marquez-Pete, Jose Maria Galvez-Navas, Laura Elena Pineda-Lancheros, Andrea Fernandez-Alonso, Cristina Membrive-Jimenez, Maria Carmen Ramirez-Tortosa, Cristina Perez-Ramirez, Alberto Jimenez-Morales
Summary: High blood pressure is a major risk factor for cardiovascular disease and mortality worldwide. Deficiencies in its diagnosis, treatment, and control still exist. This study evaluated the impact of genetic polymorphisms related to vitamin D metabolism on the risk of developing high blood pressure, and found that the rs7041 polymorphism in the GC gene was significantly associated with a lower risk.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Richard H. van Jaarsveld, Jack Reilly, Marie-Claire Cornips, Michael A. Hadders, Emanuele Agolini, Priyanka Ahimaz, Kwame Anyane-Yeboa, Severine Audebert Bellanger, Ellen van Binsbergen, Marie-Jose van den Boogaard, Elise Brischoux-Boucher, Raymond C. Caylor, Andrea Ciolfi, Ton A. J. van Essen, Paolo Fontana, Saskia Hopman, Maria Iascone, Margaret M. Javier, Erik-Jan Kamsteeg, Jennifer Kerkhof, Jun Kido, Hyung-Goo Kim, Tjitske Kleefstra, Fortunato Lonardo, Abbe Lai, Dorit Lev, Michael A. Levy, M. E. Suzanne Lewis, Angie Lichty, Marcel M. A. M. Mannens, Naomichi Matsumoto, Idit Maya, Haley McConkey, Andre Megarbane, Vincent Michaud, Evelina Miele, Marcello Niceta, Antonio Novelli, Roberta Onesimo, Rolph Pfundt, Bernt Popp, Eloise Prijoles, Raissa Relator, Sylvia Redon, Dmitrijs Rots, Karen Rouault, Ken Saida, Jolanda Schieving, Marco Tartaglia, Romano Tenconi, Kevin Uguen, Nienke Verbeek, Christopher A. Walsh, Keren Yosovich, Christopher J. Yuskaitis, Giuseppe Zampino, Bekim Sadikovic, Marielle Alders, Renske Oegema
Summary: This study collected data on individuals with heterozygous KDM2B variants and used methylation arrays to identify a KDM2B-associated epigenetic signature. The study found that pathogenic heterozygous variants in KDM2B are associated with neurodevelopmental disorders (NDDs) and identified the CxxC domain as a mutational hotspot. The results also showed that the KDM2B episignature can be identified in the context of a dual molecular diagnosis in multiple individuals.
GENETICS IN MEDICINE
(2023)
Article
Gastroenterology & Hepatology
Jingxuan Shan, Andre Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Domling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane
Summary: In this study, a deleterious variant of the uncharacterized gene FCHSD1 was identified in patients with PSVD, and it was shown that this variant leads to aberrant FCHSD1 structure and function, causing overactivation of the mTOR pathway and potentially contributing to the development of PSVD.
Article
Genetics & Heredity
Eliane Chouery, Elio Tahan, Rim Karam, Jana Pharoun, Cybel Mehawej, Andre Megarbane
Summary: Split-hand/foot malformation with long-bone deficiency is a rare condition characterized by limb abnormalities, including split hand/foot and long-bone malformation. This study reports a Lebanese family with this condition and identifies a homozygous duplication in the BHLHA9 gene on chromosome 17p13.3. The presence of this duplication complicates genetic counseling and preimplantation genetic diagnosis. This finding contributes to our understanding of the genetic basis of the disease.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Biochemistry & Molecular Biology
Abeer Qannan, Yosra Bejaoui, Mahmoud Izadi, Noha A. Yousri, Aleem Razzaq, Colette Christiansen, George M. Martin, Jordana T. Bell, Steve Horvath, Junko Oshima, Andre Megarbane, Johan Ericsson, Ehsan Pourkarimi, Nady El Hajj
Summary: Berardinelli-Seip congenital lipodystrophy type 2 (CGL2) is a rare genetic disorder that may provide insights into the aging process. In this study, DNA methylation patterns were analyzed in CGL2 patients with BSCL2 mutations to investigate epigenetic age acceleration and changes in DNA methylation. The analysis revealed significant age acceleration in the blood DNA of CGL2 patients using different epigenetic clocks. Knockdown of the BSCL2 homolog in Caenorhabditis elegans also resulted in a reduced lifespan. Additionally, DNA methylation analysis identified specific genes and pathways that may play a role in the development of CGL2.
HUMAN MOLECULAR GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Elizabeth E. Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H. Nguyen, Vanessa Suckow, Jessica Gibbons, Alva Hoff, Lisa Sigfrid, Andre Megarbane, Mathilde Nizon, Benjamin Cogne, Claire Beneteau, Fowzan S. Alkuraya, Aziza Chedrawi, Mais O. Hashem, Hannah Stamberger, Sarah Weckhuysen, Arnaud Vanlander, Berten Ceulemans, Sulekha Rajagopalan, Kenneth Nunn, Stephanie Arpin, Martine Raynaud, Constance S. Motter, Catherine Ward-Melver, Katrien Janssens, Marije Meuwissen, Diane Beysen, Nicola Dikow, Mona Grimmel, Tobias B. Haack, Emma Clement, Amy McTague, David Hunt, Sharron Townshend, Michelle Ward, Linda J. Richards, Cas Simons, Gregory Costain, Lucie Dupuis, Roberto Mendoza-Londono, Tracy Dudding-Byth, Jackie Boyle, Carol Saunders, Emily Fleming, Salima El Chehadeh, Marie-Aude Spitz, Amelie Piton, Benedicte Gerard, Marie-Therese Abi Warde, Gillian Rea, Caoimhe McKenna, Sofia Douzgou, Siddharth Banka, Cigdem Akman, Jennifer M. Bain, Tristan T. Sands, Golder N. Wilson, Erin J. Silvertooth, Lauren Miller, Damien Lederer, Rani Sachdev, Rebecca Macintosh, Olivier Monestier, Deniz Karadurmus, Felicity Collins, Melissa Carter, Luis Rohena, Marjolein H. Willemsen, Charlotte W. Ockeloen, Rolph Pfundt, Sanne D. Kroft, Michael Field, Francisco E. R. Laranjeira, Ana M. Fortuna, Ana R. Soares, Vincent Michaud, Sophie Naudion, Sailaja Golla, David D. Weaver, Lynne M. Bird, Jennifer Friedman, Virginia Clowes, Shelagh Joss, Laura Polsler, Philippe M. Campeau, Maria Blazo, Emilia K. Bijlsma, Jill A. Rosenfeld, Christian Beetz, Zoe Powis, Kirsty McWalter, Tracy Brandt, Erin Torti, Mikael Mathot, Shekeeb S. Mohammad, Ruth Armstrong, Vera M. Kalscheuer
Summary: Missense and truncating variants in the X-chromosome-linked CLCN4 gene were found to cause neurocognitive phenotype. A database of 90 rare CLCN4 missense variants in 90 families was established, revealing new pathophysiological mechanisms and the complexity of pathogenicity assessment. The study highlights the importance of genetic counseling and future research directions.
MOLECULAR PSYCHIATRY
(2023)
Article
Genetics & Heredity
Long Guo, Smrithi Salian, Jing-yi Xue, Nicola Rath, Justine Rousseau, Hyunyun Kim, Sophie Ehresmann, Shahida Moosa, Norio Nakagawa, Hiroshi Kuroda, Jill Clayton-Smith, Juan Wang, Zheng Wang, Siddharth Banka, Adam Jackson, Yan-min Zhang, Zhen-jie Wei, Irina Huening, Theresa Brunet, Hirofumi Ohashi, Molly F. Thomas, Caleb Bupp, Noriko Miyake, Naomichi Matsumoto, Roberto Mendoza-Londono, Gregory Costain, Gabriele Hahn, Nataliya Di Donato, Goekhan Yigit, Takahiro Yamada, Gen Nishimura, K. Mark Ansel, Bernd Wollnik, Martin Hrabe de Angelis, Andre Megarbane, Jill A. Rosenfeld, Vigo Heissmeyer, Shiro Ikegawa, Philippe M. Campeau
Summary: ERI1 is a 30-to-50 exoribonuclease involved in RNA metabolic pathways. Bi-allelic ERI1 variants are associated with a phenotypic dichotomy, causing a severe spondyloepimetaphyseal dysplasia in some individuals with missense variants, while individuals with null variants show mild intellectual disability and digital anomalies. The missense variants lead to a loss of exoribonuclease activity, resulting in defective 5.8S rRNA processing and decreased degradation of histone mRNAs. This study establishes the importance of ERI1-mediated RNA metabolism in human skeletal patterning and chondrogenesis.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Immunology
Cybel Mehawej, Eliane Chouery, Shirine Azar-Atallah, Wassim Shebaby, Valerie Delague, Issam Mansour, Mirna Mustapha, Gerard Lefranc, Andre Megarbane
Summary: Combined immunodeficiency diseases (CID) are severe forms of inborn errors of immunity, primarily caused by defective T cell development and/or function. The DNA polymerase delta complex, consisting of POLD1, POLD2, and POLD3, plays a crucial role in genome duplication and maintenance. Recent studies have shown that mutations in POLD1 and POLD2 are associated with syndromic CID characterized by T cell lymphopenia, neurodevelopmental delay, and sensorineural hearing loss. This study reports a homozygous POLD3 variant (NM_006591.3; p.Ile10Thr) in a Lebanese patient with syndromic severe combined immunodeficiency (SCID), presenting with neurodevelopmental delay and hearing loss. The POLD3Ile10Thr variant results in the loss of expression of POLD3, POLD1, and POLD2. These findings suggest that POLD3 deficiency is a novel cause of syndromic SCID.
CLINICAL IMMUNOLOGY
(2023)
Article
Dermatology
Joelle El Hakim, Cybel Mehawej, Eliane Chouery, Andre Megarbane, Jinia El-Feghaly, Jinane El Khoury
Summary: To date, more than 15 genes have been identified in relation to syndromic and non-syndromic hypotrichosis. In this study, a 6-year-old girl with sparse hair on her scalp, eyelashes, and eyebrows was found to have two novel compound heterozygous variants in the LSS gene through whole exome sequencing. Further investigation and reporting of LSS variants could contribute to a better understanding of genotype-phenotype correlation.
PEDIATRIC DERMATOLOGY
(2023)
Article
Genetics & Heredity
Cybel Mehawej, Maroun Ibrahim, Lynn Khalife, Eliane Chouery, Setrida El Hachem, Alain Sayad, Aya El Traboulsi, Adlette Inati, Andre Megarbane
Summary: SAMD9 protein is involved in multiple mechanisms, including endosome fusion, growth suppression, and modulation of immune responses. This study reveals the link between homozygous SAMD9 mutation and symptoms such as growth retardation and infection, expanding the clinical spectrum. Further investigation of mutations in this gene is important for understanding the underlying pathways of these diseases.
Editorial Material
Public, Environmental & Occupational Health
Alfonso J. Rodriguez-Morales, Maria Camila Lopez-Echeverri, Maria Fernanda Perez-Raga, Valentina Quintero-Romero, Valentina Valencia-Gallego, Nicolas Galindo-Herrera, Santiago Lopez-Alzate, Juan Diego Sanchez-Vinasco, Juan Jose Gutierrez-Vargas, Percy Mayta-Tristan, Rola Husni, Rima Moghnieh, Joseph Stephan, Wissam Faour, Samah Tawil, Hanane Barakat, Toufic Chaaban, Andre Megarbane, Youssef Rizk, Rania Sakr, Juan Pablo Escalera-Antezana, Lucia E. Alvarado-Arnez, D. Katterine Bonilla-Aldana, German Camacho-Moreno, Henry Mendoza, Ivan Arturo Rodriguez-Sabogal, Jose Millan-Onate, Gustavo Lopardo, Alexandre Naime Barbosa, Sergio Cimerman, Tania do Socorro Souza Chaves, Tomas Orduna, Susana Lloveras, Andrea G. Rodriguez-Morales, Monica Thormann, Patricia Gabriela Zambrano, Clevy Perez, Nancy Sandoval, Lysien Zambrano, Carlos A. Alvarez-Moreno, Enrique Chacon-Cruz, Wilmer E. Villamil-Gomez, Vicente Benites-Zapata, Eduardo Savio-Larriera, Jaime A. Cardona-Ospina, Alejandro Risquez, David A. Forero-Pena, Andres F. Henao-Martinez, Ranjit Sah, Joshuan J. Barboza, Darwin A. Leon-Figueroa, Jaime David Acosta-Espana, Carmen Maria Carrero-Gonzalez, Jaffar A. Al-Tawfiq, Ali A. Rabaan, Hakan Leblebicioglu, Jose A. Gonzales-Zamora, Rolando Ulloa-Gutierrez
TRAVEL MEDICINE AND INFECTIOUS DISEASE
(2023)
Article
Urology & Nephrology
Cybel Mehawej, Eliane Chouery, Ramy Ghabril, Sima Tokajian, Andre Megarbane
Summary: This study reports a de novo heterozygous variant in the NEK8 gene in infantile NPHP. The finding suggests the existence of autosomal dominant forms of NEK8-linked nephropathies. Further research is needed to confirm these findings and assess whether the dominant forms of the disease are linked to variants scattered throughout the NEK8 gene.
