Article
Clinical Neurology
Yuze Cao, Ning Su, Dingding Zhang, Lixin Zhou, Ming Yao, Shuyang Zhang, Liying Cui, Yicheng Zhu, Jun Ni
Summary: The study found significant correlations between MTHFR gene mutations (C677T and A1298C) and total HCY levels. Total HCY levels were also significantly associated with CSVD imaging burden, particularly with lacunes and brain volume loss.Enhanced homocysteine-lowering strategies may be necessary for individuals with genetic predisposition to reduce the risk and progression of CSVD.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Keon-Joo Lee, Hakyung Kim, Soo Ji Lee, Marie-Gabrielle Duperron, Stephanie Debette, Hee-Joon Bae, Joohon Sung
Summary: The study did not find a significant causal effect of serum 25(OH)D concentration on cSVD-related phenotypes, suggesting that the previously reported association may be partly due to reverse causation.
Article
Medicine, General & Internal
Maha Daghestani, Nashwa Othman, Mohammed A. Omair, Fahidah Alenzi, Maha A. Omair, Eman Alqurtas, Shireen Amin, Arjumand Warsy
Summary: This study conducted an investigation on the Saudi population and found that 6 single nucleotide polymorphisms (SNPs) were significantly associated with rheumatoid arthritis (RA), with 4 of them having a protective effect. Two SNPs showed significantly higher heterozygote frequencies in the control group compared to the patients. This indicates considerable heterogeneity in the genetics of RA in different populations.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Health Care Sciences & Services
Yu-Ting Hsiao, Feng-Chih Shen, Shao-Wen Weng, Pei-Wen Wang, Yung-Jen Chen, Jong-Jer Lee
Summary: This study identified genetic determinants of increased risk of diabetic retinopathy (DR) in individuals with type 2 diabetes mellitus (T2DM), focusing on FTO (rs8050136) and PSMD6 (rs831571) genetic variations. By combining genetic and nongenetic risk factors, the predictive model showed improved accuracy in predicting DR risk, especially in patients with poor glycemic control or severe microalbuminuria.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Neurosciences
Raquel Gutierrez-Zuniga, Ibai Diez, Elisenda Bueicheku, Chan-Mi Kim, William Orwig, Victor Montal, Blanca Fuentes, Exuperio Diez-Tejedor, Maria Gutierrez Fernandez, Jorge Sepulcre
Summary: This study advances understanding of the bidirectional relationships between GM and WM lesions, primary and secondary vascular neurodegeneration, and sheds light on the genetic signatures of SVD.
NEUROBIOLOGY OF DISEASE
(2022)
Review
Biotechnology & Applied Microbiology
Luiz Alexandre Chisini, Rodrigo Varella de Carvalho, Francine dos Santos Costa, Luana Carla Salvi, Flavio Fernando Demarco, Marcos Britto Correa
Summary: The aim of this systematic review and meta-analysis was to investigate the influence of single nucleotide polymorphisms (SNPs), related to genes in salivary composition and flow, on dental caries experience. Sixteen studies were included in the systematic review and ten in the meta-analysis. Forty-four SNPS, covering four genes (CA6, AQP2, AQP5, and MUC5B) were identified. Most of the SNPs were not associated with caries in meta-analysis. Homozygous TT genotype of the SNP CA6 rs17032907(C/T) was associated with caries [OR = 3.23(1.39-7.49)]. The pool effect of the SNPs assessed in AQP5 was associated with a reduction in the likelihood of caries [OR = 0.75(0.59-0.95)]. Considering all SNPs of salivary composition and flow, the effect allele was associated with a 75% increase in the likelihood of caries [OR = 1.75(1.06-2.89)] in the homozygous genotype. The present findings showed that the genes in salivary composition and flow can play an important role in dental caries experience.
Article
Hematology
M. Abdullah Said, Ming Wai Yeung, Yordi J. van de Vegte, Jan Walter Benjamins, Robin P. F. Dullaart, Sanni Ruotsalainen, Samuli Ripatti, Pradeep Natarajan, Luis Eduardo Juarez-Orozco, Niek Verweij, P. van der Harst
Summary: This study identified 40 genetic loci associated with Lp(a) concentrations and confirmed a causal relationship between Lp(a) and CAD, independent of LDL cholesterol. The findings suggest an LDL cholesterol-independent causal link between Lp(a) and CAD.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2021)
Article
Clinical Neurology
Masahiro Uemura, Yuya Hatano, Hiroaki Nozaki, Shoichiro Ando, Hajime Kondo, Akira Hanazono, Akira Iwanaga, Hiroyuki Murota, Yosuke Osakada, Masato Osaki, Masato Kanazawa, Mitsuyasu Kanai, Yoko Shibata, Reiko Saika, Tadashi Miyatake, Hitoshi Aizawa, Takeshi Ikeuchi, Hidekazu Tomimoto, Ikuko Mizuta, Toshiki Mizuno, Tomohiko Ishihara, Osamu Onodera
Summary: This study aimed to clarify the frequency and clinical features of monogenic cerebral small vessel disease (mgCSVD) among patients with adult-onset severe CSVD in Japan. The study found that over 90% of mgCSVD can be diagnosed by screening for NOTCH3, HTRA1, and ABCC6 mutations.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Genetics & Heredity
Puneet Talwar, Suman Kushwaha, Chitra Rawat, Harpreet Kaur, Ankit Srivastava, Rachna Agarwal, Puneet Chandna, Paolo Tucci, Luciano Saso, Ritushree Kukreti
Summary: This study validated the reliability of the genomic convergence and network analysis approach in identifying candidate genes associated with Alzheimer's disease by studying the association of genetic variants from three critical genes, APOE, EGFR, and ACTB. The results showed significant associations between certain SNPs in these genes and AD, further supporting the utility of this approach in identifying potential AD-related genes.
FRONTIERS IN GENETICS
(2021)
Letter
Clinical Neurology
Sanjay Budhdeo, Anderson Rodrigues Brandao de Paiva, Charles Wade, Laura Cardia Gomes Lopes, Bruno Della-Ripa, Indran Davagnanam, Leandro Lucato, Catherine J. Mummery, Fernando Kok, Henry Houlden, David J. Werring, David S. Lynch
Summary: This study presents the clinical and imaging characteristics of two Chinese and Brazilian patients with Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL). One patient exhibited symptoms such as headache, tinnitus, and cognitive impairment, while the other patient had dysphagia and dysarthria. Magnetic resonance imaging showed extensive brain lesions.
JOURNAL OF NEUROLOGY
(2022)
Article
Neurosciences
Vasileios Siokas, Stylianos Arseniou, Athina-Maria Aloizou, Zisis Tsouris, Ioannis Liampas, Markos Sgantzos, Panagiotis Liakos, Dimitrios P. Bogdanos, Georgios M. Hadjigeorgiou, Efthimios Dardiotis
Summary: The study found that the CD33 rs3865444 gene is associated with decreased risk of PD, suggesting the need for larger studies to further investigate the role of CD33 rs3865444 in PD.
NEUROSCIENCE LETTERS
(2021)
Review
Oncology
Huitong Chen, Qian Guan, Huiqin Guo, Lei Miao, Zhenjian Zhuo
Summary: Hepatoblastoma, the most common malignant liver cancer in childhood, is believed to have genetic predisposition, although specific exposures or genetic events related to its occurrence are still unclear. Recent advances in understanding the genetic changes underlying hepatoblastoma may lead to improved patient outcomes. Single nucleotide polymorphisms (SNPs) have been widely used in researching etiology, disease treatment, and prognosis assessment for hepatoblastoma.
FRONTIERS IN ONCOLOGY
(2021)
Article
Medicine, General & Internal
Tamara Perez-Jeldres, Fabien Magne, Gabriel Ascui, Danilo Alvares, Matias Orellana, Manuel Alvarez-Lobos, Cristian Hernandez-Rocha, Lorena Azocar, Nataly Aguilar, Alberto Espino, Ricardo Estela, Sergio Escobar, Alejandra Zazueta, Pablo Baez, Veronica Silva, Andres de la Vega, Elizabeth Arriagada, Carolina Pavez-Ovalle, Alejandro Diaz-Asencio, Dante Travisany, Juan Francisco Miquel, Eduardo J. Villablanca, Mitchell Kronenberg, Maria Leonor Bustamante
Summary: This study investigated the genetic risk variants of IBD in a Chilean cohort, finding an association between Native American ancestry and IBD risk. Variants associated with IBD risk in this Andean region were related to myeloid cells and the innate immune response.
FRONTIERS IN MEDICINE
(2023)
Article
Agriculture, Dairy & Animal Science
Xiaoyun He, Wei Wang, Xiaolong Du, Mingxing Chu
Summary: This study investigated the distribution of two SNPs in the PIK3CD gene and their association with litter size in sheep. The results showed that rs412889931 was associated with sheep fecundity and may regulate litter size by influencing the expression of the PIK3CD gene. This study suggests that rs412889931 could be used as a marker for selecting litter size in sheep breeding.
ANIMAL BIOTECHNOLOGY
(2022)
Article
Environmental Sciences
Gayatri Mohanty, Soumya Ranjan Jena, Sujata Kar, Luna Samanta
Summary: HSPA2 is a testis-specific molecular chaperone that plays a key role in spermatogenesis. Computational analysis revealed 18 deleterious nsSNPs in the HSPA2 gene, suggesting its potential impact on reproductive outcomes. Additionally, gene-gene interaction study identified a close association with antioxidant enzyme SOD1, providing insight into the oxidative scavenging regulatory mechanism in RPL patients.
ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH
(2022)