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The genotype of a single SNP, rs12913832, is the primary predictor of blue and brown eye colours. The genotypes rs12913832:AA and rs12913832:GA are most often observed in individuals with brown eye colours, whereas rs12913832:GG is most often observed in individuals with blue eye colours. However, approximately 3% of Europeans with the rs12913832:GG genotype have brown eye colours. The purpose of the study presented here was to identify variants that explain brown eye colour formation in individuals with the rs12913832:GG genotype. Genes and regulatory regions surrounding SLC24A4, TYRP1, SLC24A5, IRF4, TYR, and SLC45A2, as well as the upstream region of OCA2 within the HERC2 gene were sequenced in a study comprising 40 individuals with the rs12913832:GG genotype. Of these, 24 individuals were considered to have blue eye colours and 16 individuals were considered to have brown eye colours. We identified 211 variants within the SLC24A4, TYRP1, IRF4, and TYR target regions associated with eye colour. Based on in silico analyses of predicted variant effects we recognized four variants, TYRP1 rs35866166:C, TYRP1 rs62538956:C, SLC24A4 rs1289469:C, and TYR rs1126809:G, to be the most promising candidates for explanation of brown eye colour in individuals with the rs12913832:GG genotype. Of the 16 individuals with brown eye colours, 14 individuals had four alleles, whereas the alleles were rare in the blue eyed individuals. rs35866166, rs62538956, and rs1289469 were for the first time found to be associated with pigmentary traits, whilst rs1126809 was previously found to be associated with pigmentary variation. To improve prediction of eye colours we suggest that future eye colour prediction models should include rs35866166, rs62538956, rs1289469, and rs1126809.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7485777 | PMC |
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0239131 | PLOS |
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December 2024
Division of Public Health, Department of Family & Preventive Medicine, University of Utah School of Medicine, and Huntsman Cancer Institute, Salt Lake City, Utah, USA.
Introduction: The relations between coffee and tea consumption and head and neck cancer (HNC) incidence are unclear. With increasing global HNC burden, this study aims to examine the association between coffee, tea, and HNC.
Methods: A pooled analysis of 9548 HNC cases and 15,783 controls from 14 individual-level case-control studies was conducted from the International Head and Neck Cancer Epidemiology consortium.
Phys Sportsmed
December 2024
Medical Department, World Rugby, Dublin, Ireland.
Objectives: Concussion is a common injury in rugby union ('rugby') and yet its diagnosis is reliant on clinical judgment. Oculomotor testing could provide an objective measure to assist with concussion diagnosis. NeuroFlex® evaluates oculomotor function using a virtual-reality headset.
View Article and Find Full Text PDFJ Sci Med Sport
December 2024
World Rugby, Ireland. Electronic address:
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Design: Cross sectional repeated measures study and controlled pre-test post-test sub-study.
JBRA Assist Reprod
December 2024
Christus University Center (Unichristus), Fortaleza, CE, Brazil.
Due to its documented records and technological achievements, in vitro embryo creation technology is still honored worldwide forty years after Louise Brown's birth on July 25, 1978. The World Health Organization (WHO) reports that one in six people globally who are of reproductive age may have infertility at some point in their lives. In this environment, it has become noteworthy for couples or patients to want to become pregnant through operations carried out by Assisted Human Reproduction Centers (AHRCs).
View Article and Find Full Text PDFAnimals (Basel)
November 2024
State Key Laboratory of Plateau Ecology and Agriculture, Qinghai University, Xining 810016, China.
(Yang, Huang, Jiang, Burbrink, and Huang, 2022) was first described in Ningshan County, Shaanxi Province, China in 2022, based on seven female specimens. In this study, based on phylogenetic analyses using mitochondrial 12S ribosomal RNA (), 16S ribosomal RNA (), cytochrome c oxidase subunit 1 (), cytochrome b (cyt ) gene fragments, and morphological examinations of specimens, we revise the taxonomic status of , and provide additional data on this species. The molecular phylogeny indicated that is nested in a highly supported monophyletic group, forming a sister taxon to , and is divided into two well-supported lineages, A and B, with an uncorrected -distance between lineages from 3.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!