Analysis of CYP2C19 genetic variants with ischaemic events in UK patients prescribed clopidogrel in primary care: a retrospective cohort study by Luke C Pilling, George A Kuchel, Luigi Ferrucci, David Melzer, Janice L Atkins, João Delgado, Jack Bowden, Deniz Türkmen, Hannah Fullalove, Chia-Ling Kuo, Jane A H Masoli

“…Objective To determine whether CYP2C19 loss-of-function (LoF) alleles increase risk of ischaemic stroke and myocardial infarction (MI) in UK primary care patients prescribed clopidogrel.Design Retrospective cohort analysis.Setting Primary care practices in the UK from January 1999 to September 2017.Participants 7483 European-ancestry adults from the UK Biobank study with genetic and linked primary care data, aged 36–79 years at time of first clopidogrel prescription.Interventions Clopidogrel prescription in primary care, mean duration 2.6 years (range 2 months to 18 years).Main outcome measure Hospital inpatient-diagnosed ischaemic stroke, MI or angina while treated with clopidogrel.Results 28.7% of participants carried at least one CYP2C19 LoF variant. …”
Get full text

Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNA by Paolo Peruzzo, Natascha Bergamin, Martina Bon, Sara Cappelli, Alessandra Longo, Elisa Goina, Cristiana Stuani, Emanuele Buratti, Andrea Dardis

“….-32-13T>G variant, found in 40–70% of LO-PD alleles, is a leaky splicing mutation interfering with the correct GAA exon 2 recognition by the spliceosome leading to the production of non-functional GAA transcripts. …”
Get full text

LRR1 involved in the abscisic acid signaling pathway to regulate the early growth and development of Arabidopsis thaliana by Xiaoyang Xie, Lei Wei, Hongyuan Han, Bingnian Jing, Yuqing Liu, Yong Zhou, Ningjie Li, Xiao Li, Wei Wang

“…Methods Homozygous T-DNA insertion alleles for LRR1 and KIN7 were isolated. Quantitative real-time PCR (qRT-PCR) was performed to confirm the expression of the LRR1 gene. …”
Get full text

Molecular mechanisms impact on fluoroquinolone resistance among E.coli from enteric carriage monitoring before prostate biopsy and earliest description of qnrB81 by Rehaiem Amel, Bouzouita Abderrazek, Ferjani Sana, Saadi Ahmed, Zrelli Mariem, Kanzari Lamia, Ferjani Asma, Mohamed Riadh Ben Slama, Boutiba Ben Boubaker Ilhem

“…PMQRs genes (4 qnrB ,7 qnrS, and one aac(6’)-Ib-cr) were determined within 15% of the isolates. Allelic variation allows us to report earliest the qnrB81 determinant in an E. coli isolate. …”
Get full text

Temporal changes in Plasmodium falciparum genetic diversity and multiplicity of infection across three areas of varying malaria transmission intensities in Uganda by Alex Mwesigwa, Steven M. Kiwuwa, Benson Musinguzi, Hakiim Kawalya, James Davis Katumba, Andrew Baguma, Irene M. Mutuku, Ismail Abiola Adebayo, Samuel L. Nsobya, Pauline Byakika-Kibwika, Joan N. Kalyango, Charles Karamagi, Joaniter I. Nankabirwa

“…Genetic diversity metrics, including the number of alleles and expected heterozygosity, were calculated using GENALEX and ARLEQUIN software. …”
Get full text

Genome-wide association mapping and genomic prediction analyses reveal the genetic architecture of grain yield and agronomic traits under drought and optimum conditions in maize by Manigben Kulai Amadu, Yoseph Beyene, Vijay Chaikam, Pangirayi B. Tongoona, Eric Y. Danquah, Beatrice E. Ifie, Juan Burgueno, Boddupalli M. Prasanna, Manje Gowda

“…Integration of genomic selection with GWAS results leads not only to an increase in the prediction accuracy but also to validate the function of the identified candidate genes as well increase in the accumulation of favorable alleles with minor and major effects in elite breeding lines. …”
Get full text

Retinoblastoma. Part 1. Clinical presentations and diagnostic tools by S.V. Ivanova, S.A. Kuleva, N.N. Sadovnikova, M.I. Komissarov, M.N. Chistyakova, A.V. Khokhlova, N.A. Shchegoleva

“…The association between tumor development and the loss of both alleles of RB1 gene is well-established. Mutations in the RB1 gene result in the complete inactivation of retinoblastoma protein expression and, therefore, uncontrolled cell proliferation and generation of tumor cell clone. …”
Get full text

Study of the relationships of polymorphisms of the folate cycle genes with the levels of homocysteine and folic acid as risk factors of cardiovascular disorders in the post-covid p... by A.A. Shuprovych, O.V. Zinych, N.M. Kushnareva, K.P. Komisarenko

“…For each of the named polymorphisms, the examined patients were divided into 3 groups according to the nucleotide alleles in the corresponding position: 1) homozygous dominant, 2) heterozygous and 3) homozygous recessive. …”
Get full text

Genomic insights into genetic diversity and seed coat color change in common bean composite populations by Eva Plestenjak, Eva Plestenjak, Mohamed Neji, Lovro Sinkovič, Vladimir Meglič, Barbara Pipan

“…Genetic diversity metrics such as nucleotide diversity (π), observed heterozygosity (Ho), expected heterozygosity (He) and allelic richness (Ar) were calculated. Population structure was analyzed using Fst, principal component analysis (PCA) and clustering. …”
Get full text

Molecular epidemiology of carbapenem-resistant Acinetobacter baumannii group in Taiwan by Tran Lam Tu Quyen, Yu-Chia Hsieh, Shiao-Wen Li, Lii-Tzu Wu, Ya-Zhu Liu, Yi-Jiun Pan

“…Our analysis revealed that the rpoB alleles of OXA51-like-negative strains matched those of two NAB species, A. seifertii and A. nosocomialis, while all OXA51-like-positive strains matched A. baumannii, as per the Pasteur MLST scheme database. …”
Get full text

APOL1 Modulates Renin–Angiotensin System by Vinod Kumar, Prabhjot Kaur, Kameshwar Ayasolla, Alok Jha, Amen Wiqas, Himanshu Vashistha, Moin A. Saleem, Waldemar Popik, Ashwani Malhotra, Christoph A. Gebeshuber, Karl Skorecki, Pravin C. Singhal

“…Patients carrying APOL1 risk alleles (G1 and G2) have a higher risk of developing Focal Segmental Glomerulosclerosis (FSGS); we hypothesized that escalated levels of miR193a contribute to kidney injury by activating renin–angiotensin system (RAS) in the APOL1 milieus. …”
Get full text

Emerging threat of artemisinin partial resistance markers (pfk13 mutations) in Plasmodium falciparum parasite populations in multiple geographical locations in high transmission re... by Bosco B. Agaba, Jye Travis, David Smith, Simon P. Rugera, Maria G. Zalwango, Jimmy Opigo, Charles Katureebe, Ruth Mpirirwe, Dembo Bakary, Martin Antonio, Beshir Khalid, Joseph Ngonzi, Moses R. Kamya, Pontiano Kaleebu, Peter Piot, Qin Cheng

“…Relative parasite DNA quantity did not differ in samples carrying the wild type, C469Y and A675V alleles (Kruskal–Wallis test, P = 0.6373). Conclusion Detection of validated molecular markers of artemisinin partial resistance in multiple geographical locations in this setting provides additional evidence of emerging threat of artemisinin partial resistance in Uganda. …”
Get full text

Novel isolates expand the physiological diversity of Prochlorococcus and illuminate its macroevolution by Jamie W. Becker, Shaul Pollak, Jessie W. Berta-Thompson, Kevin W. Becker, Rogier Braakman, Keven D. Dooley, Thomas Hackl, Allison Coe, Aldo Arellano, Kristen N. LeGault, Paul M. Berube, Steven J. Biller, Andrés Cubillos-Ruiz, Benjamin A. S. Van Mooy, Sallie W. Chisholm

“…Isolate genomes revealed that each strain contains a unique arsenal of pigment biosynthesis and binding alleles that have been horizontally acquired, contributing to the observed physiological diversity. …”
Get full text

FTO rs17817449 Variant Increases the Risk of Severe Obesity in a Brazilian Cohort: A Case-Control Study by Salum KCR, Assis ISS, Kopke ÚA, Palhinha L, Abreu GM, Gouvêa LW, Teixeira MR, Mattos FCC, Nogueira Neto JF, Felício RFM, Rosado EL, Zembrzuski VM, Campos Junior M, Maya-Monteiro CM, Cabello PH, Carneiro JRI, Bozza PT, Kohlrausch FB, da Fonseca ACP

“…Finally, individuals with obesity were more likely to carry a greater number of risk alleles than those without obesity.Conclusion: Our study observed an important association between FTO rs17817449 polymorphism with obesity and obesity-related traits. …”
Get full text

Configuración Dermatoglífica, ACTN3 y ECA: Un estudio transcultural en deportistas de diferentes Disciplinas (Dermatoglyphic Configuration, ACTN3 and ECA: A transcultural study in... by Claudio Hernández-Mosqueira, Humberto Castillo-Quezada, Sebastian Peña-Troncoso, Andrea Joao, Rodrigo Moraga Muñoz, Mauricio Cresp-Barria, Alexis Caniuqueo-Vargas, Sandro Fernandes Da Silva, Jose Fernandes Filho

“…Conclusion: Dermatoglyphic characteristics may be associated with the allelic variant of the ACTN3 (RR) and RCT (DI) gene, for sports profiles of an anaerobic nature. …”
Get full text