Article
Medical Laboratory Technology
Yuqi Wang, Ling Li, Ping Li
Summary: The association between gestational diabetes mellitus (GDM) and single nucleotide polymorphisms (SNPs) has been widely studied. SNPs can provide insights into the pathogenesis of GDM, help predict the risk of GDM, and guide the management of GDM patients. This review focuses on recent studies investigating the association between SNPs and GDM, identifying several SNPs that have been associated with GDM. However, further research is needed to explore the role of SNPs in the prediction, diagnosis, treatment, and prognosis of GDM in diverse ethnic populations.
CLINICA CHIMICA ACTA
(2023)
Article
Multidisciplinary Sciences
Marco Antonio Perpetuo de Sousa, Flavia Regina Florencio de Athayde, Mariangela Bueno Cordeiro Maldonado, Andressa Oliveira de Lima, Marina Rufino S. Fortes, Flavia Lombardi Lopes
Summary: The study found that approximately 71.6% of the predicted miRNA targets were altered as a result of SNPs located within the seed region of the mature miRNAs, potentially affecting miRNA maturation. Analysis revealed that 48.6% of the sequences had values sufficient enough to alter miRNA maturation.
Article
Fisheries
Xin He, Fucun Wu, Haigang Qi, Jie Meng, Wei Wang, Mingkun Liu, Li Li, Guofan Zhang
Summary: This study identified 925 single nucleotide polymorphisms (SNPs) and 593 genes associated with shell shape in Crassostrea gigas. Two SNPs were found to be significantly related to shell shape differences in an independent population using SNaPshot for genotyping validation. Ten genes were identified as significantly differentially expressed in extreme shell shape groups using real-time PCR.
Review
Immunology
Chinaemerem U. Onyishi, Robin C. May
Summary: Cryptococcus neoformans is an opportunistic fungal pathogen causing lethal cryptococcal meningitis, with genetic polymorphisms playing a significant role in disease trajectory. Studies have linked polymorphisms in various immune-related genes to susceptibility to cryptococcal disease, but the specific mechanisms remain unclear and may vary across different populations. Future research should focus on including diverse populations in genetic association studies to better understand the impact of these polymorphisms.
Article
Immunology
Ding-Ping Chen, Tang-Her Jaing, Ai-Ling Hour, Wei-Tzu Lin, Fang-Ping Hsu
Summary: This study identified specific SNPs in non-HLA genes associated with the effectiveness of unrelated CBT, which can aid in selecting the best donor and predicting the risk of CBT adverse reactions, further suggesting the important role of SNPs in immune regulation.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Gyeonghee Lee, Hye Kyung Jeon, Hae Young Yoo
Summary: Through genome-wide association study analysis, this study identified genetic polymorphisms related to dyslipidemia in Korean populations, revealing sex-related differences in dyslipidemia incidence. Further studies considering environmental variables are needed to elucidate these genetic differences.
LIPIDS IN HEALTH AND DISEASE
(2022)
Article
Genetics & Heredity
David Gokhman, Rachel M. Agoglia, Maia Kinnebrew, Wei Gordon, Danqiong Sun, Vivek K. Bajpai, Sahin Naqvi, Coral Chen, Anthony Chan, Chider Chen, Dmitri A. Petrov, Nadav Ahituv, Honghao Zhang, Yuji Mishina, Joanna Wysocka, Rajat Rohatgi, Hunter B. Fraser
Summary: The study of human-chimpanzee hybrid induced pluripotent stem cells reveals evidence of lineage-specific selection on the hedgehog signaling pathway, which may have contributed to the unique craniofacial morphology of humans. This approach offers a new perspective on understanding gene expression differences between species.
Article
Biology
Hala Ahmed, Hassan Soliman, Mohammed Elmogy
Summary: This paper aims to predict and diagnose Alzheimer's disease (AD) based on SNP biomarkers with high classification accuracy in the early stages. Machine learning techniques are used to identify new biomarkers of AD, and two feature selection techniques, information gain filter and Boruta wrapper, are proposed. The experimental results show that the proposed system is feasible for the early detection of AD, and the Boruta wrapper feature selection technique is superior to the information gain filter technique.
COMPUTERS IN BIOLOGY AND MEDICINE
(2022)
Review
Cell Biology
Farbod Bahreini, Elham Rayzan, Nima Rezaei
Summary: Breast cancer, a multifactorial disease, may have an increased risk due to alterations in microRNA sequences. miR-SNPs are potential biomarkers for early detection of breast cancer.
JOURNAL OF CELLULAR PHYSIOLOGY
(2021)
Article
Multidisciplinary Sciences
Shan Li, Sridhar Hannenhalli, Ivan Ovcharenko
Summary: Using data from human and macaque embryonic neocortical H3K27ac, researchers identified approximately 4000 enhancer gains in humans, which appear to be caused by single-nucleotide essential mutations. These new enhancers play a role in embryonic brain development, increasing the expression of target genes in progenitor cells and interneurons involved in neural developmental processes. Essential mutations alter the activity of embryonic neocortex enhancers through changes in transcription factor binding and are associated with central nervous system disorders, suggesting their importance in human cognition.
Article
Biotechnology & Applied Microbiology
Yan Jing, Weili Teng, Lijuan Qiu, Hongkun Zheng, Wenbin Li, Yingpeng Han, Xue Zhao
Summary: The study of 185 representative soybean accessions revealed partial resistance related to SSR disease, and potential candidate genes were identified through sequencing and association analysis.
Article
Biochemistry & Molecular Biology
Katarina C. Stuart, Richard J. Edwards, William B. Sherwin, Lee A. Rollins
Summary: This study examines the genetic diversity within the invasive European starling and finds that structural variants can have a complex impact on adaptation under new selection regimes, and their effects do not always align with SNP diversity.
MOLECULAR BIOLOGY AND EVOLUTION
(2023)
Article
Cell Biology
Concetta Scimone, Luigi Donato, Simona Alibrandi, Concetta Alafaci, Angela D'Ascola, Sergio Vinci, Rosalia D'Angelo, Antonina Sidoti
Summary: This study reveals the importance of epitranscriptomic modifications in gene expression regulation and suggests the involvement of altered epitranscriptome profile in the development of CCM. These findings provide new insights for further investigation into the pathogenesis of CCM.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Tingting Hua, Chang Zhang, Yating Fu, Na Qin, Su Liu, Congcong Chen, Linnan Gong, Huimin Ma, Yue Ding, Xiaoxia Wei, Chenying Jin, Chen Jin, Meng Zhu, Erbao Zhang, Juncheng Dai, Hongxia Ma
Summary: N6-methyladenosine (m6A) modification is identified as an important epigenetic mechanism in human cancer development. This study investigates the association between m(6)A-associated single-nucleotide polymorphisms (m(6)A-SNPs) and lung cancer risk. The findings reveal several novel susceptibility loci linked to lung cancer, which may affect cancer development through gene expression and m6A modification levels.
MOLECULAR CARCINOGENESIS
(2023)
Article
Biochemistry & Molecular Biology
Maria Radanova, Mariya Levkova, Galya Mihaylova, Rostislav Manev, Margarita Maneva, Rossen Hadgiev, Nikolay Conev, Ivan Donev
Summary: There is a growing interest in studying single nucleotide polymorphisms (SNPs) in microRNA (miRNA) genes, as they may be associated with susceptibility, prognosis, and treatment response in colorectal cancer (CRC). These miRNA-SNPs could serve as non-invasive biomarkers for early detection of CRC. However, contradictory findings have been reported when different research groups investigated the same SNP in a gene for a specific miRNA, highlighting the need for more case-control studies involving participants from different ethnic backgrounds. According to our review, three miRNA-SNPs - miR-146a rs2910164, miR-27a rs895819, and miR-608 rs4919510 - appear to be promising prognostic, diagnostic, and predictive biomarkers for CRC.