Evidence of distinct RELN and TGFB1 genetic associations in familial and non-familial otosclerosis in a British population
Andrew Mowat; Michael Crompton; Joanna L. Ziff; Christopher Aldren; Jeremy Lavy; Shakeel R. Saeed; Sally J. Dawson · 2018 · Human Genetics
WASTE classifies this as Negative / Null Result Report · AI classification, approximate
The study found no significant effect — useful as a negative control or null benchmark for your own design.
The finding, in one line
“However, follow up studies have often failed to replicate initial positive results.”
Abstract
Otosclerosis is a common form of hearing loss which typically presents in young adults. The disease has a familial, monogenic form and a non-familial form with a more complex aetiology. A previous genome wide association study identified evidence that variants within RELN are associated with the condition. Other genes in which an association has been reported include BMP2, COL1A1, FGF2, PPP2R5B and TGFB1. However, follow up studies have often failed to replicate initial positive results. The aim of this study was to establish if an association exists between eight single nucleotide polymorphis
Abstract by Andrew Mowat; Michael Crompton; Joanna L. Ziff; Christopher Aldren; Jeremy Lavy; Shakeel R. Saeed; Sally J. Dawson, Human Genetics (2018) — licensed CC BY 4.0.
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Metadata source: OpenAlex · DOI 10.1007/s00439-018-1889-9