rs10076402 - MRPS5P3 - SELENOTP2

Magnitude 2.0 · 1 study on file

Reported associations

• Common and Rare Genetic Variants That Could Contribute to Severe Otitis Media in an Australian Aboriginal Population - Clinical infectious diseases : an official publication of the Infectious Diseases Society of America (2021) · Jamieson SE, Fakiola M, Tang D, Scaman E, Syn G, Francis RW, Coates HL, Anderson D, Lassmann T, Cordell HJ, Blackwell JM · PubMed 33693626

  ABSTRACT: Abstract Background Our goal was to identify genetic risk factors for severe otitis media (OM) in Aboriginal Australians. Methods Illumina® Omni2.5 BeadChip and imputed data were compared between 21 children with severe OM (multiple episodes chronic suppurative OM and/or perforations or tympanic sclerosis) and 370 individuals without this phenotype, followed by FUnctional Mapping and Annotation (FUMA). Exome data filtered for common (EXaC_all ≥ 0.1) putative deleterious variants influencing protein coding (CADD-scaled scores ≥15] were used to compare 15 severe OM cases with 9 mild cases (single episode of acute OM recorded over ≥3 consecutive years). Rare (ExAC_all ≤ 0.01) such variants were filtered for those present only in severe OM. Enrichr was used to determ

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