Article
Genetics & Heredity
Zachary R. McCaw, Colm O'Dushlaine, Hari Somineni, Michael Bereket, Christoph Klein, Theofanis Karaletsos, Francesco Paolo Casale, Daphne Koller, Thomas W. Soare
Summary: Allelic series, characterized by increasing deleterious mutations and larger phenotypic effects, are of interest for potential therapeutic applications. The Coding-Variant Allelic-Series Test (COAST) is a gene-based rare-variant association test designed to identify genes with allelic series. COAST outperformed traditional association tests in identifying gene-trait associations for circulating-lipid and cell-count traits, and also detected associations not found in the full cohort but supported by rare-variant or common-variant evidence.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Agronomy
Ana B. Huertas-Garcia, Carlos Guzman, Facundo Tabbita, Juan B. Alvarez
Summary: This study evaluates the diversity of Pina-D1 and Pinb-D1 in Iranian common wheat landraces and identifies multiple alleles associated with hard grain. A novel allele is also detected, which may be associated with harder grains than other alleles. This study highlights the importance of conserving and characterizing wheat genetic resources.
Article
Multidisciplinary Sciences
Rola Al Ghali, Carla El-Mallah, Omar Obeid, Ola El-Saleh, Linda Smail, Dalia Haroun
Summary: The urinary excretion of calcium, magnesium, and phosphorus among Emirati schoolchildren was found to be similar to levels in other countries. Fluoride excretion suggests that Emirati children have a low risk of fluorosis. The slightly elevated level of urinary iodine excretion requires close monitoring of salt iodization to prevent harmful effects of iodine overconsumption.
Article
Genetics & Heredity
Amy B. Wilfert, Tychele N. Turner, Shwetha C. Murali, PingHsun Hsieh, Arvis Sulovari, Tianyun Wang, Bradley P. Coe, Hui Guo, Kendra Hoekzema, Trygve E. Bakken, Lara H. Winterkorn, Uday S. Evani, Marta Byrska-Bishop, Rachel K. Earl, Raphael A. Bernier, Michael C. Zody, Evan E. Eichler
Summary: Whole-genome sequencing data from 3,474 families revealed an excess of private, likely gene-disrupting variants in individuals with autism, which are under purifying selection. The study identified candidate genes not previously associated with autism and highlighted the importance of ultra-rare variants in autism risk. Private LGD variants were found to be significantly younger and act on a distinct set of genes, supporting a multi-hit model for autism.
Article
Medicine, General & Internal
Xinru Guo, Wanling Wang, Yangyang Ma, Yanjun Liang, Yena Zhou, Guangyan Cai
Summary: This study examined the impact of 24-h urinary calcium excretion (UCaE) on renal function decline in hospitalized patients, including those with chronic kidney disease (CKD) and those without CKD. The results showed that increasing UCaE was associated with a decreased risk of renal function decline in both CKD and non-CKD patients.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Health Care Sciences & Services
Masaki Kumondai, Akio Ito, Evelyn Marie Gutierrez Rico, Eiji Hishinuma, Akiko Ueda, Sakae Saito, Tomoki Nakayoshi, Akifumi Oda, Shu Tadaka, Kengo Kinoshita, Masamitsu Maekawa, Nariyasu Mano, Noriyasu Hirasawa, Masahiro Hiratsuka
Summary: This study characterized the functional differences in CYP2C9 variants in Japanese individuals, revealing significantly reduced or null enzymatic activity compared to the wild-type and a strong correlation in catalytic efficiencies between (S)-warfarin and tolbutamide metabolism. The observed perturbation in enzyme activity was evaluated through three-dimensional structural modeling, providing insights to improve personalized medicine, particularly in selecting appropriate warfarin dose based on rare allelic variants of CYP2C9.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Biotechnology & Applied Microbiology
Ryan Joynson, Gemma Molero, Benedict Coombes, Laura-Jayne Gardiner, Carolina Rivera-Amado, Francisco J. Pinera-Chavez, John R. Evans, Robert T. Furbank, Matthew P. Reynolds, Anthony Hall
Summary: This study surveyed a diverse set of wheat germplasm and demonstrated the value of genomic methods in uncovering hidden genetic variation. The strategic integration of exotic material alleviated the genetic bottleneck in wheat, increasing SNP rate significantly. By utilizing association analysis, candidate genes for traits related to photosynthetic capacity were identified, showing how genomic methods can assist breeding efforts and enhance our understanding of complex traits in wheat.
PLANT BIOTECHNOLOGY JOURNAL
(2021)
Article
Biotechnology & Applied Microbiology
Yen-Chen A. Feng, Ian B. Stanaway, John J. Connolly, Joshua C. Denny, Yuan Luo, Chunhua Weng, Wei-Qi Wei, Scott T. Weiss, Elizabeth W. Karlson, Jordan W. Smoller
Summary: This study evaluated the burden of rare variations in ACMG-56 genes and two psychiatric-associated genes in individuals of European descent and found that there is no association between incidental findings in medically actionable gene mutations and psychiatric disorders.
Article
Biochemistry & Molecular Biology
Katinka Breuer, Korbinian M. Riedhammer, Nicole Mueller, Birthe Schaidinger, Gregor Dombrowsky, Sven Dittrich, Susanne Zeidler, Ulrike M. M. Bauer, Dominik S. Westphal, Thomas Meitinger, Tikam Chand Dakal, Marc-Phillip Hitz, Johannes Breuer, Heiko Reutter, Alina C. Hilger, Julia Hoefele
Summary: In this study, exome sequencing was performed on 14 case-parent trios/quattros with cardiovascular laterality defects. Rare variants in PKD1L1 and ZIC3 genes were identified in two families, suggesting their association with laterality defects. Additionally, DNAH17, LMBRD1, and WDR47 were proposed as potential genes involved in laterality defects. A comprehensive exome survey of individuals with situs inversus totalis, heterotaxy, or isolated CHD further supported the potential role of WDR47 in laterality defects.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Endocrinology & Metabolism
Suyan Duan, Lianqin Sun, Huanhuan Zhu, Guangyan Nie, Chengning Zhang, Zhimin Huang, Bo Zhang, Changying Xing, Yanggang Yuan
Summary: In patients with T2DM, higher urinary calcium and phosphorus excretion were associated with a decreased risk of CKD progression, especially in patients with non-diabetic kidney disease (NDKD). This study suggests a potential protective effect of urinary calcium and phosphorus excretion on CKD progression in T2DM patients.
DIABETES RESEARCH AND CLINICAL PRACTICE
(2021)
Article
Endocrinology & Metabolism
Jing Liu, Maria Clarissa Tio, Ashish Verma, Insa M. Schmidt, Titilayo O. Ilori, Felix Knauf, Finnian R. Mc Causland, Sushrut S. Waikar
Summary: This study aimed to investigate predictors of urinary calcium excretion and its association with adverse clinical outcomes in chronic kidney disease (CKD). The results showed that estimated glomerular filtration rate (eGFR) was positively correlated with 24-hour urinary calcium excretion. The determinants of urinary calcium excretion differed between sexes and levels of CKD. Lower urinary calcium excretion was associated with higher risks of adverse outcomes, but these associations were greatly attenuated or nullified after adjustment for baseline eGFR.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Review
Genetics & Heredity
Giovanna Civitate Bastos, Giovanna Cantini Tolezano, Ana Cristina Victorino Krepischi
Summary: Macrocephaly often occurs in single-gene disorders affecting the PI3K-AKT-MTOR pathway, but epigenetic mutations, mosaicism, and copy number variations (CNVs) are also relevant causative factors. By studying CNVs and genomic loci, candidate genes and genomic regions linked to macrocephaly can be identified.
Article
Plant Sciences
Yu Qiao, Qiming Cheng, Yutong Zhang, Wei Yan, Fengyan Yi, Fengling Shi
Summary: This study identified key genes involved in flower color formation in sainfoin and utilized transcriptome technology to investigate white flower formation for the first time, providing valuable molecular information for genetic breeding and future studies on flower color polymorphisms in sainfoin.
Article
Genetics & Heredity
Milos Macholan, Kristina Daniszova, Zuzana Hiadlovska
Summary: Mouse wild-derived strains have potential applications in biomedical and evolutionary studies, but there are significant variations among different strains, indicating that generalizations should be made with caution.
Article
Plant Sciences
Chong Zhang, Wenping Xie, Huiwen Fu, Yuting Chen, Hua Chen, Tiecheng Cai, Qiang Yang, Yuhui Zhuang, Xin Zhong, Kun Chen, Meijia Gao, Fengzhen Liu, Yongshan Wan, Manish K. Pandey, Rajeev K. K. Varshney, Weijian Zhuang
Summary: QTL-seq was used to identify a candidate genomic region associated with resistance to Ralstonia solanacearum, which contained 180 nonsynonymous SNPs and 14 InDels affecting 75 and 11 putative candidate genes, respectively. Two diagnostic SNP markers were validated and showed high phenotypic variation in resistant and susceptible lines.
FRONTIERS IN PLANT SCIENCE
(2023)