Article
Oncology
Shefali Setia Verma, Lindsay Guare, Sarah Ehsan, Aimilia Gastounioti, Gabrielle D. Scales, Marylyn D. Ritchie, Despina Kontos, Anne Marie McCarthy
Summary: Black women in the US have higher breast cancer mortality rates and later-stage tumor diagnoses compared to White women. Previous studies have identified breast density as an important risk factor for breast cancer, but little is known about its influence on African ancestry populations. This study aimed to determine genetic factors associated with breast density in African ancestry populations using a Genome-Wide Association Study (GWAS) and post-GWAS analyses.
Article
Nutrition & Dietetics
Lisa A. Parlato, Rene Welch, Irene M. Ong, Jirong Long, Qiuyin Cai, Mark D. Steinwandel, William J. Blot, Wei Zheng, Shaneda Warren Andersen
Summary: This study found a significant association between VDBP and 25-hydroxyvitamin D, particularly among individuals of African ancestry. The researchers conducted a genome-wide association study and identified 4 loci associated with VDBP concentrations in African American adults.
AMERICAN JOURNAL OF CLINICAL NUTRITION
(2023)
Article
Agriculture, Dairy & Animal Science
Asha M. Miles, Christian J. Posbergh, Heather J. Huson
Summary: New genetic markers associated with udder and teat conformation in cows were identified, and a composite risk index was proposed to determine potential genes related to mastitis. Integrating genetic information into breeding programs can efficiently reduce economic losses caused by mastitis.
Article
Multidisciplinary Sciences
Matteo Sesia, Stephen Bates, Emmanuel Candes, Jonathan Marchini, Chiara Sabatti
Summary: The study introduces a comprehensive statistical framework for analyzing data from genome-wide association studies of polygenic traits, demonstrating validity and effectiveness through simulations and applications to the UK Biobank data. The method outperforms state-of-the-art alternatives and is supported by comparisons with other studies, offering researchers fast software for analyzing Biobank-scale datasets.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Plant Sciences
Lei Wang, Jinqing Xu, Handong Wang, Tongrui Chen, En You, Haiyan Bian, Wenjie Chen, Bo Zhang, Yuhu Shen
Summary: A collection of 288 oat lines from around the world were evaluated to study the genetic diversity, population structure, and linkage disequilibrium of oat. The results showed high genetic diversity and strong population structure in the oat lines. Significant associations were found between markers and traits related to hullessness and lemma color. These findings have important implications for further research and breeding of oat in high-altitude regions.
FRONTIERS IN PLANT SCIENCE
(2023)
Article
Urology & Nephrology
Ying-Chun Chen, Henry Sung-Ching Wong, Mei-Yi Wu, Wan-Hsuan Chou, Chih-Chin Kao, Ching-Hsuan Chao, Wei-Chiao Chang, Mai-Szu Wu
Summary: This study identified four susceptibility loci associated with kidney-related traits in a Taiwanese population, with 22q13.2 and 3q29 prioritized as critical candidates.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2022)
Article
Genetics & Heredity
Meiyue Wang, Zhuoqing Fang, Boyoung Yoo, Gill Bejerano, Gary Peltz
Summary: The impact of population structure (PS) on murine genome-wide association studies (GWAS) results is minimal, and the correction for PS may reject true positive association signals, especially with small sample sizes. Evaluation of PS assessment results should be carefully conducted along with other criteria when interpreting murine GWAS results.
FRONTIERS IN GENETICS
(2021)
Article
Biotechnology & Applied Microbiology
Haijie Song, Wenting Li, Yuanfang Li, Bin Zhai, Yujie Guo, Yi Chen, Ruili Han, Guirong Sun, Ruirui Jiang, Zhuanjian Li, Fengbin Yan, Guoxi Li, Xiaojun Liu, Yanhua Zhang, Yadong Tian, Xiangtao Kang
Summary: In this study, a genome-wide association study (GWAS) was conducted to identify genetic variations associated with serum biochemical indicators in chickens. A total of 236 single-nucleotide polymorphisms (SNPs) on 9 chicken chromosomes were found to be significantly associated with eight serum biochemical indicators. Additionally, ten novel quantitative trait loci (QTLs) were identified for these serum biochemical indicators. Literature mining also revealed potential candidate genes for these traits.
Article
Allergy
Esther Herrera-Luis, Victor E. Ortega, Elizabeth J. Ampleford, Yang Yie Sio, Raquel Granell, Emmely de Roos, Natalie Terzikhan, Ernesto Elorduy Vergara, Natalia Hernandez-Pacheco, Javier Perez-Garcia, Elena Martin-Gonzalez, Fabian Lorenzo-Diaz, Simone Hashimoto, Paul Brinkman, Andrea L. Jorgensen, Qi Yan, Erick Forno, Susanne J. Vijverberg, Ryan Lethem, Antonio Espuela-Ortiz, Mario Gorenjak, Celeste Eng, Ruperto Gonzalez-Perez, Jose M. Hernandez-Perez, Paloma Poza-Guedes, Olaia Sardon, Paula Corcuera, Greg A. Hawkins, Annalisa Marsico, Thomas Bahmer, Klaus F. Rabe, Gesine Hansen, Matthias Volkmar Kopp, Raimon Rios, Maria Jesus Cruz, Francisco-Javier Gonzalez-Barcala, Jose Maria Olaguibel, Vicente Plaza, Santiago Quirce, Glorisa Canino, Michelle Cloutier, Victoria Del Pozo, Jose R. Rodriguez-Santana, Javier Korta-Murua, Jesus Villar, Uros Potocnik, Camila Figueiredo, Michael Kabesch, Somnath Mukhopadhyay, Munir Pirmohamed, Daniel B. Hawcutt, Erik Melen, Colin N. Palmer, Steve Turner, Anke H. Maitland-van der Zee, Erika von Mutius, Juan C. Celedon, Guy Brusselle, Fook Tim Chew, Eugene Bleecker, Deborah Meyers, Esteban G. Burchard, Maria Pino-Yanes
Summary: This multi-ancestry study identified novel suggestive regulatory loci for asthma exacerbations, located in genomic regions participating in inflammation and host defense, revealing the genetic basis of asthma exacerbations.
PEDIATRIC ALLERGY AND IMMUNOLOGY
(2022)
Article
Dentistry, Oral Surgery & Medicine
Liwen Fan, Lan Ma, Guirong Zhu, Siyue Yao, Xiaofeng Li, Xin Yu, Yongchu Pan, Lin Wang
Summary: Our GWAS study identified chromosome 2 variants, including rs147680216, as well as three novel susceptibility loci, associated with the risk of premolar agenesis in the Chinese population.
Article
Multidisciplinary Sciences
Marina Penova, Shuji Kawaguchi, Jun-ichirou Yasunaga, Takahisa Kawaguchi, Tomoo Sato, Meiko Takahashi, Masakazu Shimizu, Mineki Saito, Kunihiro Tsukasaki, Masanori Nakagawa, Norihiro Takenouchi, Hideo Hara, Eiji Matsuura, Satoshi Nozuma, Hiroshi Takashima, Shuji Izumo, Toshiki Watanabe, Kaoru Uchimaru, Masako Iwanaga, Atae Utsunomiya, Yasuharu Tabara, Richard Paul, Yoshihisa Yamano, Masao Matsuoka, Fumihiko Matsuda
Summary: This study identified strong associations in HLA class I and class II loci with HAM/TSP, with specific alleles like HLAC*07:02, HLA-B*07:02, HLA-DRB1*01:01, and HLA-DQB1*05:01 related to disease risk. Conversely, alleles like HLA-B*40:06, HLA-DRB1*15:01, and HLA-DQB1*06:02 were found to be protective. The amino acid residue DRB1-GB-7-Leu was identified as a genetic risk factor for HAM/TSP development independently of proviral load, serving as a specific marker for disease risk.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Multidisciplinary Sciences
Matthieu Bouaziz, Jimmy Mullaert, Benedetta Bigio, Yoann Seeleuthner, Jean-Laurent Casanova, Alexandre Alcai, Laurent Abel, Aurelie Cobat
Summary: Population stratification is a confounder of genetic association studies, especially in analyses of rare variants. Correction methods based on principal components and linear mixed models may yield conflicting conclusions. A simulation study involving various population structures and sample sizes found that a novel local permutation method maintained correct type-I-errors across all scenarios. Properly controlling type-I-errors is crucial in genetic association studies involving population stratification.
SCIENTIFIC REPORTS
(2021)
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
Genetics & Heredity
Samantha Boudeau, Meganathan P. Ramakodi, Yan Zhou, Jeffrey C. Liu, Camille Ragin, Rob J. Kulathinal
Summary: Researchers have identified a set of African ancestry-informative markers (AIMs) that effectively differentiate populations of African ancestry from other global populations and further identify substructure within African populations. These AIMs have shown associations with diseases in African populations. However, there is a need to better represent historically understudied populations as the current genotyping platforms lack these AIMs.
FRONTIERS IN GENETICS
(2023)
Article
Clinical Neurology
Barbara Schormair, Chen Zhao, Aaro Salminen, Konrad Oexle, Juliane Winkelmann
Summary: This study aimed to reassess the associations between candidate genes and idiopathic restless legs syndrome (RLS) in a large case-control dataset. The findings from previous candidate gene studies were not confirmed in the replication sample, indicating that these associations were likely false positives. The study highlights the need for large sample sizes and stringent significance thresholds in future association studies for RLS.
Review
Pediatrics
James Ellis Dinulos, James Gary Dinulos
Summary: The true incidence of cutaneous reactions in children infected with SARS-CoV-2 is unknown, and children may develop a severe multisystem inflammatory syndrome with overlapping clinical features with Kawasaki disease. Vaccinations can also produce rashes similar to natural infections. Ongoing studies aim to better understand the burden of skin disease and pathophysiology of rashes seen in patients infected with COVID-19.
CURRENT OPINION IN PEDIATRICS
(2021)
Review
Allergy
James E. Dinulos, James G. Dinulos
Summary: In this article, the authors discuss relevant cutaneous findings after travel to tropical destinations, including arthropod-borne infectious diseases and other diseases with cutaneous signs. They provide information on the background, diagnosis, treatment, and prevention of these tropical rashes, and address the impact of climate change on their incidence. They emphasize the importance of updated information for physicians in today's warming world.
ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY
(2023)