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Lookup NU author(s): Dr Thahira Rahman, Valentina Mamasoula, Dr Peter Avery, Professor Bernard Keavney
Aims: Previous genome-wide linkage analysis has suggested that chromosomal region 17p13.3 may harbour genes influencing left ventricular mass (LVM) in man. To date, the genetic factors accounting for LVM variability remain largely unknown but a non-coding RNA gene within this region, micro-RNA 22 (miR-22), has been implicated in cardiac hypertrophy and heart failure in animal models. We thus investigated the relationship between common genetic polymorphisms surrounding miR-22 and left ventricular mass in a family-based association study. Methods and Results: We studied a cohort of 255 families comprising 1,425 individuals ascertained via a hypertensive proband. Ten single nucleotide polymorphisms which together tagged common genetic variation surrounding the miR-22 gene were genotyped. There was evidence of association between the rs7223247 polymorphism, which lies within the 3'UTR of a gene of unknown function, TLCD2, immediately downstream from miR-22, and left ventricular mass determined by Sokolow-Lyon voltage (Bonferroni corrected p-value = 0.038). The T allele at rs7223247 was associated with an 0.272 standard deviation higher Sokolow-Lyon voltage. Genotype was responsible for similar to 1% of the population variability in LVM. Conclusions: Genotype at the rs7223247 polymorphism affects left ventricular mass determined by Sokolow-Lyon voltage. The neighbouring genes miR-22 and TLCD2 are strong candidates to account for this observation.
Author(s): Harper AR, Mayosi BM, Rodriguez A, Rahman T, Hall D, Mamasoula C, Avery PJ, Keavney BD
Publication type: Article
Publication status: Published
Journal: PLoS One
Year: 2013
Volume: 8
Issue: 1
Print publication date: 01/01/2013
Date deposited: 11/07/2013
ISSN (print): 1932-6203
ISSN (electronic): 1544-9173
Publisher: Public Library of Science
URL: http://dx.doi.org/10.1371/journal.pone.0055061
DOI: 10.1371/journal.pone.0055061
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