Characteristics and outcome of acute myeloid leukemia with uncommon retinoic acid receptor-alpha (RARA) fusion variants.
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ABSTRACT:
SUBMITTER: Cicconi L
PROVIDER: S-EPMC8520532 | biostudies-literature | 2021 Oct
REPOSITORIES: biostudies-literature
Publications
Characteristics and outcome of acute myeloid leukemia with uncommon retinoic acid receptor-alpha (RARA) fusion variants.
Cicconi Laura L Testi Anna Maria AM Montesinos Pau P Rego Eduardo E Zhu Hong Hu HH Takahashi Hiroyuki H Dworzak Michael M Estey Elihu E Schwarer Anthony A Esteve Jordi J Annibali Ombretta O Castelli Roberto R Mirabile Milena M Angelini Mario M Lazarevic Vladimir V Kumar Jeevan J Avvisati Giuseppe G Gurnari Carmelo C Locatelli Franco F Voso Maria Teresa MT Sanz Miguel Angel MA Lo-Coco Francesco F Abla Oussama O
Blood cancer journal 20211016 10
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Project description:The Retinoic Acid Receptor Alpha (RARA) gene is a potential candidate gene for myopia due to its differential expression in animal models during experimentally induced myopia. To test for whether RARA is associated with myopia we have undertaken a case-control study assessing for associations between RARA and myopia, hypermetropia, and ocular biometric measures.A total of 802 Anglo-Celtic individuals were genotyped. Five tag single nucleotide polymorphisms (tSNPs) in RARA with an r(2) of 0.8 and a minor allele frequency greater than 5% were selected for genotyping. Genotype frequencies of these 5 tSNPs were compared between individuals with emmetropia and those with myopia or hypermetropia. A quantitative analysis was also performed to assess associations with ocular biometric measures including axial length, corneal curvature and anterior chamber depth.We did not identify any significant association between tSNPs in RARA with either myopia or hypermetropia as qualitative traits. Neither did we identify any significant associations of these tSNPs with the quantitative traits of axial length, corneal curvature and anterior chamber depth.This is the first study to assess for associations between RARA and myopia, hypermetropia, and ocular biometric measures. Our findings suggest that variations in the nucleotide sequence of RARA are not associated with myopia, hypermetropia, or ocular biometric measures in our population.
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