Article
Medicine, Research & Experimental
Miao Zhang, Qing Li, Kai-Lin Wang, Yao Dong, Yu-Tong Mu, Yan-Min Cao, Jin Liu, Zi-Heng Li, Hui-Lu Cui, Hai-Yan Liu, An-Qun Hu, Ying-Jie Zheng
Summary: This study identified CNVRs and SNPs associated with GDM in Chinese women through genome-wide association study and case-cohort study. Nineteen candidate genes related to lipase, oxidoreductase, and beta-cell proliferation were mapped. These genes are involved in the biological mechanisms of lipolysis, redox reaction, and proliferation of islet beta-cells.
JOURNAL OF TRANSLATIONAL MEDICINE
(2023)
Article
Agronomy
Woon Ji Kim, Byeong Hee Kang, Chang Yeok Moon, Sehee Kang, Seoyoung Shin, Sreeparna Chowdhury, Soon-Chun Jeong, Man-Soo Choi, Soo-Kwon Park, Jung-Kyung Moon, Bo-Keun Ha
Summary: In this study, significant single-nucleotide polymorphisms (SNPs) associated with days to flowering, days to maturity, and seed weight were identified through genetic analysis of wild soybean. Candidate genes related to these traits were selected based on the detected SNP markers. These findings are expected to contribute to improving the quality of soybean cultivars through selective breeding.
Article
Plant Sciences
Ana Borrego-Benjumea, Adam Carter, Min Zhu, James R. Tucker, Meixue Zhou, Ana Badea
Summary: This study identified 17 genomic regions containing 51 significant markers associated with waterlogging tolerance, with the majority located on chromosomes 1H, 2H, 4H, and 5H. In addition to discovering six new QTL, eight potential candidate genes mediating responses to abiotic stresses were located. This research provides valuable information for marker-assisted selection of waterlogging tolerance in barley breeding.
FRONTIERS IN PLANT SCIENCE
(2021)
Article
Plant Sciences
Xuehua Bai, Xin Wang, Yanzhou Wang, Yiping Wei, Yafen Fu, Jing Rao, Yonghong Ma, Zheng Zeng, Fu Li, Mansheng Wang, Siyuan Zhu
Summary: A genome-wide association study of ramie identified several genomic regions associated with forage traits and described candidate genes that may play a role in nitrogen metabolism and growth and development.
Article
Plant Sciences
Tingru Zeng, Zhaodong Meng, Runqing Yue, Shouping Lu, Wenlan Li, Wencai Li, Hong Meng, Qi Sun
Summary: Using a large-scale investigation, this study identified 59 significantly associated genetic loci related to maize yield through genome-wide association analysis. These findings are important for understanding the genetic architecture of maize yield and genetic improvement of maize.
Article
Evolutionary Biology
Jie Gong, Ji Zhao, Qiaozhen Ke, Bijun Li, Zhixiong Zhou, Jiaying Wang, Tao Zhou, Weiqiang Zheng, Peng Xu
Summary: Genomic selection has the potential to improve breeding value accuracy of economically vital growth-related traits in the O. fasciatus population. The underlying genetic architecture of body weight, total length, and body depth traits was found to be polygenic, and different statistical models showed similar performance in predicting genomic estimated breeding values. The study suggests that low SNP density is sufficient for accurate prediction in breeding populations of O. fasciatus.
EVOLUTIONARY APPLICATIONS
(2022)
Article
Genetics & Heredity
Endale G. Tafesse, Krishna K. Gali, V. B. Reddy Lachagari, Rosalind Bueckert, Thomas D. Warkentin
Summary: Heat and drought stress can limit pea productivity, but genetic diversity in pea germplasm offers potential for developing stress-adaptive cultivars. A genome-wide association study identified 15 marker trait associations (MTAs) for six stress-adaptive traits in pea, highlighting potential candidate genes for selecting stress-hardy pea cultivars through marker-assisted selection.
Article
Plant Sciences
Yueming Yi, Muhammad A. Hassan, Xinxin Cheng, Yiru Li, Huan Liu, Wuyun Fang, Qian Zhu, Shimei Wang
Summary: This study investigated the phenotypic data of multiple agronomic and physiological traits in 120 recombinant inbred lines (RILs) under drought stress. Genome-wide association study (GWAS) identified 9 quantitative trait loci (QTLs) associated with drought-related traits and predicted 10 candidate genes related to drought response. This study provides important information for understanding the drought tolerance mechanisms in rice and facilitates marker-assisted breeding of drought-tolerant rice varieties.
FRONTIERS IN PLANT SCIENCE
(2023)
Article
Genetics & Heredity
Peiqi Wang, Xinghan Sun, Qiang Miao, Hao Mi, Minyuan Cao, Shan Zhao, Yiyi Wang, Yang Shu, Wei Li, Heng Xu, Ding Bai, Yan Zhang
Summary: This study investigated the genetic predispositions of aesthetic facial traits in the Chinese population. Several novel genetic associations were identified, and functional annotation and polygenic scores were used to understand the genetic basis of these traits.
FRONTIERS IN GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Zhe Zheng, Ruijuan Hao, Chuangye Yang, Yu Jiao, Qingheng Wang, Ronglian Huang, Yongshan Liao, Jianbo Jian, Yao Ming, Lixin Yin, Weiming He, Ziman Wang, Chuyi Li, Qi He, Kun Chen, Yuewen Deng, Xiaodong Du
Summary: Biomineralization-controlled growth of exo-/endoskeleton contributes to body growth and size diversity. This study used pearl oysters to investigate the genetic regulation of biomineralization-controlled growth and ectopic biomineralization. The insulin-like growth factor (IGF) endocrine signal and ancient single-copy transcription factors formed the regulatory network. Cross-phylum regulation of key long noncoding RNA (lncRNA) in bivalves and mammals suggests conserved genetic and epigenetic regulation. Thyroid hormone signal and apoptosis regulation affected ectopic biomineralization in pearl oysters.
MOLECULAR ECOLOGY RESOURCES
(2023)
Article
Veterinary Sciences
Yunna Li, Hua Yang, Jing Guo, Yonglin Yang, Qian Yu, Yuanyuan Guo, Chaoxin Zhang, Zhipeng Wang, Peng Zuo
Summary: This study conducted a genome-wide association study (GWAS) using a high-density SNP chip to map loci related to weaning weight and yearling weight in sheep. The results identified significant associations of various SNPs with these weight traits and revealed potential candidate genes involved in regulating body weight. The findings highlight the value of multi-omic analysis in identifying genetic factors influencing body weight.
FRONTIERS IN VETERINARY SCIENCE
(2023)
Article
Biotechnology & Applied Microbiology
Rahul K. Verma, S. K. Chetia, P. C. Dey, Anjum Rahman, Sandhani Saikia, Vinay Sharma, Himanshu Sharma, P. Sen, M. K. Modi
Summary: The study genotyped 297 winter rice accessions of Assam, North East India using sequencing and identified 60 significant marker-trait associations, with a QTL 'hot spot' detected on chromosome 6. This information could be utilized in genomics assisted breeding for the improvement of existing rice cultivars in the region.
Article
Plant Sciences
Jianhui Ma, Miaomiao Ye, Qianqian Liu, Meng Yuan, Daijing Zhang, Chunxi Li, Qingdong Zeng, Jianhui Wu, Dejun Han, Lina Jiang
Summary: This study identifies an important candidate gene for grain zinc concentration in wheat through the investigation of 382 wheat accessions. It is also found that the grain zinc concentration of wheat accessions has shown an increasing trend over time, indicating the dominance allele for grain zinc concentration has not been lost during breeding. This research provides valuable insights into improving grain zinc concentration in wheat through marker-assisted breeding.
FRONTIERS IN PLANT SCIENCE
(2023)
Article
Agriculture, Dairy & Animal Science
Bowen Gu, Ruifan Sun, Xingqiang Fang, Jipan Zhang, Zhongquan Zhao, Deli Huang, Yuanping Zhao, Yongju Zhao
Summary: This study conducted a genome-wide association study on a Chinese indigenous goat breed, Dazu black goats, to identify the genetic variants associated with body conformation traits. A total of 53 significant single nucleotide polymorphisms and 42 candidate genes were detected. These findings have practical applications for genetic improvement and economic benefits in the goat meat industry.
Article
Multidisciplinary Sciences
Ya-Ching Chou, Ming-Jer Chen, Pi-Hua Chen, Ching-Wen Chang, Mu-Hsien Yu, Yi-Jen Chen, Eing-Mei Tsai, Shih-Feng Tsai, Wun-Syuan Kuo, Chii-Ruey Tzeng
Summary: This study identified novel genetic variants associated with susceptibility to endometriosis in a Taiwanese population through genome-wide association study and replication, while also observing eQTL related to the expression of the INTU gene. The findings suggest that these genetic variants may impact the risk of endometriosis in the Taiwanese population.
SCIENTIFIC REPORTS
(2021)
Editorial Material
Pathology
Erin O. Jacob, Robert A. Hegele
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
(2023)
Article
Pharmacology & Pharmacy
Shehan D. Perera, Jian Wang, Adam D. McIntyre, Jacqueline S. Dron, Robert A. Hegele, Cert Endo
Summary: In this study, the longitudinal triglyceride (TG) phenotype of individuals with heterozygous pathogenic LPL variants was evaluated. The results showed that TG levels varied widely among patients and within the same patient. Most patients exhibited mild-to-moderate and severe hypertriglyceridemia (HTG), and the severity likely depended on secondary factors.
JOURNAL OF CLINICAL LIPIDOLOGY
(2023)
Editorial Material
Cardiac & Cardiovascular Systems
Robert A. Hegele
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Pei Jun Zhao, Robert A. Hegele
Summary: The Canadian Society of Clinical Chemists has recommended adopting the more accurate Sampson/US NIH LDL-C equation for cardiovascular disease prevention. Based on the comparison of survey data, it is estimated that approximately 123,000 Canadians who are already taking cholesterol-lowering medications may need to intensify treatment due to the equation change.
Editorial Material
Cardiac & Cardiovascular Systems
Robert A. Hegele
EUROPEAN HEART JOURNAL
(2023)
Review
Cardiac & Cardiovascular Systems
Marina Cuchel, Frederick J. Raal, Robert A. Hegele, Khalid Al-Rasadi, Marcello Arca, Maurizio Averna, Eric Bruckert, Tomas Freiberger, Daniel Gaudet, Mariko Harada-Shiba, Lisa C. Hudgins, Meral Kayikcioglu, Luis Masana, Klaus G. Parhofer, Jeanine E. Roeters van Lennep, Raul D. Santos, Erik S. G. Stroes, Gerald F. Watts, Albert Wiegman, Jane K. Stock, Lale S. Tokgoezoglu, Alberico L. Catapano, Kausik K. Ray
Summary: This 2023 statement provides updated clinical guidance for the management of homozygous familial hypercholesterolaemia (HoFH), including criteria for diagnosis, genetic testing interpretation, and treatment recommendations. The statement emphasizes the importance of considering both phenotype and genotype in the diagnosis of HoFH, with a LDL-C level >10 mmol/L (>400 mg/dL) being indicative of the condition. Combination therapy targeting LDL-C, including the use of novel therapies like proprotein convertase subtilisin/kexin type 9 inhibitors, is recommended to achieve LDL-C goals and reduce the need for lipoprotein apheresis. To improve HoFH care globally, the statement recommends the implementation of national screening programs, education to increase awareness, and management guidelines adapted to local healthcare systems.
EUROPEAN HEART JOURNAL
(2023)
Review
Pharmacology & Pharmacy
Catherine M. Spagnuolo, Robert A. Hegele
Summary: Mild-to-moderate hypertriglyceridemia (HTG) is associated with atherosclerotic cardiovascular disease (ASCVD) and elevated triglyceride (TG) levels. Apolipoprotein C-III (apo C-III) inhibition is a promising treatment approach for reducing TG levels and ASCVD risk. Biologic agents like volanesorsen, olezarsen, and ARO-APOC3 significantly reduce apo C-III and TG levels, but further study is needed on their impact on cardiovascular outcomes.
EXPERT OPINION ON PHARMACOTHERAPY
(2023)
Article
Cardiac & Cardiovascular Systems
Gerald F. Watts, Samuel S. Gidding, Robert A. Hegele, Frederick J. Raal, Amy C. Sturm, Laney K. Jones, Mitchell N. Sarkies, Khalid Al-Rasadi, Dirk J. Blom, Magdalena Daccord, Sarah D. de Ferranti, Emanuela Folco, Peter Libby, Pedro Mata, Hapizah M. Nawawi, Uma Ramaswami, Kausik K. Ray, Claudia Stefanutti, Shizuya Yamashita, Jing Pang, Gilbert R. Thompson, Raul D. Santos
Summary: Familial hypercholesterolaemia (FH) is a preventable cause of premature coronary artery disease and death. This guidance article from the International Atherosclerosis Society provides a comprehensive overview of FH care that includes recommendations on the detection and management of patients with FH, as well as strategies to maximize implementation.
NATURE REVIEWS CARDIOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Ahsen Chaudhry, Mark Trinder, Kristin Vesely, Lubomira Cermakova, Linda Jackson, Jian Wang, Robert A. Hegele, Liam R. Brunham
Summary: A study found that approximately 0.9% of patients clinically diagnosed with heterozygous familial hypercholesterolemia (HeFH) actually had homozygous familial hypercholesterolemia (HoFH) based on genetic diagnosis. These patients had higher levels of low-density lipoprotein cholesterol and a higher prevalence of premature cardiovascular disease.
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2023)
Review
Cardiac & Cardiovascular Systems
Iulia Iatan, G. B. John Mancini, Eunice Yeoh, Robert A. Hegele
Summary: Statins are important for reducing the risk of atherosclerotic cardiovascular disease, but they are underutilized due to concerns about side effects. Statin-associated muscle symptoms are a common cause of intolerance and discontinuation, leading to increased risk of adverse cardiovascular outcomes.
EXPERT REVIEW OF CARDIOVASCULAR THERAPY
(2023)
Article
Health Care Sciences & Services
Jean Lachaine, Jean -Nicolas Charron, Jean C. Gregoire, Robert A. Hegele, Lawrence A. Leiter
Summary: In a cost-utility analysis conducted from a Canadian healthcare payer perspective, icosapent ethyl (IPE) was found to be a cost-effective treatment option for statin-treated patients with elevated triglycerides. Compared to placebo, IPE was associated with a higher number of quality-adjusted life years (QALYs) and an incremental cost-effectiveness ratio (ICER) of $42,797/QALY gained. This analysis highlights the importance of IPE in reducing ischemic cardiovascular events in this patient population and its cost-effectiveness in Canada.
CLINICOECONOMICS AND OUTCOMES RESEARCH
(2023)
Review
Endocrinology & Metabolism
Praneet K. K. Gill, Robert A. A. Hegele
Summary: This article reviews the causes and consequences of hypocholesterolemia resulting from genetic and non-genetic factors, and discusses therapeutic strategies inspired by genetic hypocholesterolemia.
EXPERT REVIEW OF ENDOCRINOLOGY & METABOLISM
(2023)
Editorial Material
Hematology
Ann Marie Schmidt, Mary G. Sorci-Thomas, Yabing Chen, Robert A. Hegele
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2023)
Editorial Material
Cardiac & Cardiovascular Systems
Robert A. Hegele
Article
Genetics & Heredity
Shengjie Ying, Tracy Heung, Bhooma Thiruvahindrapuram, Worrawat Engchuan, Yue Yin, Christina Blagojevic, Zhaolei Zhang, Robert A. Hegele, Ryan K. C. Yuen, Anne S. Bassett
Summary: Elevated TG levels are modifiable risk factors for cardiovascular disease, and this study found that the TG-PRS, along with sex and BMI, were significant predictors of TG levels, especially in individuals with obesity. A combination of TG-PRS, sex, and BMI showed the greatest accuracy in predicting mild-moderate hypertriglyceridemia.
BMC MEDICAL GENOMICS
(2023)