Article
Medicine, General & Internal
Antonia Msafiri Makene, Jun-Lin Liu
Summary: This study identified multiple polymorphic loci in the CARD14 gene associated with susceptibility to psoriasis and confirmed the significant correlation of several loci with the development of psoriasis. Bioinformatic analysis further demonstrated the impact of these loci on gene function and identified two protective haplotypes for the disease.
Article
Biochemistry & Molecular Biology
Danial Jahantigh, Saeedeh Ghazaey Zidanloo, Seyedeh Zahra Moossavi, Forough Forghani
Summary: Functional single nucleotide polymorphisms (SNPs) in the IL-12B gene can significantly affect protein expression or modify its functions, potentially leading to immune disorders. The relationship between common IL-12B SNPs and the risk of preeclampsia (PE) has been unclear. A case-control study genotyped 253 PE patients and 250 healthy subjects for IL-12B rs3212227 and IL-12B rs6887695 SNPs. In-silico analysis was also conducted to assess the potential functions of these polymorphisms. The results showed an association between the rs3212227 variation in the IL-12B gene and susceptibility to PE. The rs6887695 SNP correlated negatively with PE development and had a protective effect on PE risk. The study also found certain haplotypes of IL-12B to be more prevalent in PE patients.
Article
Multidisciplinary Sciences
Jonas Schmidt, Sandro Berghaus, Frithjof Blessing, Holger Herbeck, Josef Blessing, Peter Schierack, Stefan Rodiger, Dirk Roggenbuck, Folker Wenzel
Summary: Nanopore sequencing has great potential for clinical diagnostics, but further validation and certification are required.
Article
Environmental Sciences
Huimin Wang, Guangzhi Yang, Dawei Sun, Boshen Wang, Hao Chen, Mengyao Chen, Baoli Zhu
Summary: The study found an association between genetic polymorphisms rs10499080 and rs6568819 within the HDAC2 gene and the risk of NIHL, indicating that workers exposed to noise with HDAC2 have a lower risk of NIHL.
ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH
(2021)
Article
Chemistry, Multidisciplinary
Songjun Xiao, Aaron M. Fleming, Cynthia J. Burrows
Summary: The previously reported click-code-seq method has been redesigned to enable the sequencing of many damage types by making simple changes to the protocol (i.e., click-code-seq v2.0), which could aid in understanding the cellular outcomes of oxidative damage to DNA nucleotides.
CHEMICAL COMMUNICATIONS
(2023)
Article
Biochemistry & Molecular Biology
Piotr Czarny, Sylwia Ziolkowska, Lukasz Kolodziej, Cezary Watala, Paulina Wigner-Jeziorska, Katarzyna Blizniewska-Kowalska, Katarzyna Wachowska, Malgorzata Galecka, Ewelina Synowiec, Piotr Galecki, Michal Bijak, Janusz Szemraj, Tomasz Sliwinski
Summary: This study explores the impact of SNPs in genes encoding enzymes involved in mtDNA replication, repair, or degradation on the occurrence, onset, severity, and treatment of MDD. The findings suggest that mtDNA damage and impairment in its metabolism play a crucial role in the development and treatment of depression.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Agriculture, Dairy & Animal Science
Sayed Haidar Abbas Raza, Rajwali Khan, Sameer D. Pant, Mujahid Ali Shah, Guobo Quan, Long Feng, Gong Cheng, Lin-sheng Gui, Linsen Zan
Summary: This study investigated the association between OPN genotypes and haplotypes with milk composition in Chinese Holstein cows. The results showed that certain haplotypes and genetic markers were associated with increased butter-fat percentage, suggesting that the polymorphisms in OPN could be potentially used for marker-assisted selection in Chinese Holstein cows.
ANIMAL BIOTECHNOLOGY
(2023)
Article
Pharmacology & Pharmacy
Chiara Casotti, Claudia Maria Hattinger, Maria Pia Patrizio, Silvia Luppi, Leonardo Fantoni, Michela Pasello, Katia Scotlandi, Toni Ibrahim, Massimo Serra
Summary: In this study, an innovative mmNGS approach was used to investigate SNPs associated with MTX resistance in HGOS cell lines. The results showed that allele changes in TP53, SLC19A1, and MTHFR were functionally involved in the development of MTX resistance. In addition, a fusion transcript of DHFR and MSH3 was identified in the cells with the highest MTX resistance level.
FRONTIERS IN PHARMACOLOGY
(2023)
Article
Nutrition & Dietetics
Yu-Min Huang, Weu Wang, Po-Pin Hsieh, Hsin-Hung Chen
Summary: The genetic effect of obesity plays a significant role in the development of an obesogenic environment. Genes rs712221 and rs2016520 are associated with obesity and show a synergistic effect, increasing the risk of obesity.
Article
Agriculture, Dairy & Animal Science
M. Kinukawa, M. Ito, Y. Uemoto, A. Ogino, S. Haruta, K. Kurogi, T. Watanabe, S. Sasaki, Y. Naniwa, K. Uchiyama, K. Togashi
Summary: There is considerable variation in the bull conception rate (BCR) of Japanese Black cattle, and some bulls with a low BCR have been identified. In this study, a genome-wide association study with whole-exome sequencing was conducted to identify single-nucleotide polymorphisms (SNPs) for predicting low BCR. The g.116408653G > A SNP in Bos taurus autosome 5 was found to have a significant effect on BCR.
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
Alberto Hidalgo-Bravo, Berenice Rivera-Paredez, Guadalupe Leon-Reyes, Nelly Patino, Manuel Castillejos-Lopez, Jorge Salmeron, Rafael Velazquez-Cruz
Summary: This study investigated the association of common single nucleotide polymorphisms (SNPs) on the GC gene, derived haplotypes, and serum vitamin D binding protein (VDBP) levels with the susceptibility to suffer from metabolic syndrome (MetS) in Mexican adults. The study found that there were differences in association results between sexes, and specific genotypes and haplotypes were associated with increased or decreased risk of MetS in women.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Orthopedics
Jun Li, Zebing Liu, Yanxia Ren, Han Shao, Siyuan Li
Summary: This study found that LRP5-rs2306862 and LRP6-rs2302685 gene polymorphisms and gene-gene and gene-age interactions may increase the risk of abnormal bone mass in postmenopausal women. However, there was no significant association between any of the SNPs and menopausal years and ABM susceptibility.
JOURNAL OF ORTHOPAEDIC SURGERY AND RESEARCH
(2023)
Article
Agriculture, Dairy & Animal Science
Mackenzie A. Marrella, Fernando H. Biase
Summary: This study suggests that it is not necessary to transform RNA-sequencing data to fit a normal distribution prior to eQTL analysis, and the differential gene expression framework can be used instead. This approach can detect biologically relevant variants that might be missed with data transformation.
JOURNAL OF ANIMAL SCIENCE AND BIOTECHNOLOGY
(2023)
Article
Cell Biology
Yao Zhou, Xiaohui Yang, Zheng Liu, Yu Zhang, Huaye Chen, Yongfang Zhang, Yuxin Hu, Yanlin Ma, Qi Li
Summary: The study identified two novel mutations in the FREM2 gene related to the risk of Fraser syndrome, and described a next-generation sequencing-based single nucleotide polymorphism haplotyping method for selecting embryos from patients with Fraser syndrome for in vitro fertilization and embryo transfer treatment. This approach resulted in the successful delivery of a healthy baby without complications.