The authors of a 2012 paper in the Journal of Neuroimmunology have retracted the paper after some of the researchers were unable to verify the findings in follow-up work.
The article, “Association of transforming growth factor beta-1 (TGFB1) regulatory region polymorphisms with myasthenia gravis-related ophthalmoparesis,” came from a lab at Groote Schuur Hospital and the University of Cape Town, in South Africa.
According to the abstract:
We investigated the association of an ophthalmoplegic complication developing in African myasthenia gravis (MG) subjects with polymorphisms in the regulatory region of TGFB1. We found significant associations with several putative functional single nucleotide polymorphisms (SNPs) (including two novel SNPs) that potentially alter transcription factor binding. Our data support a hypothesis that altered TGFB1 regulation may predispose individuals who harbour these SNPs to developing ophthalmoplegia as a result of increased TGF-β1 driven myofibrosis as a consequence to complement-mediated damage.
But as the retraction notice indicates, the data in fact do not support that hypothesis — or any other, for that matter:
This article has been retracted at the request of the author. Upon further investigation into the findings it was found that the results could not be replicated and, having re-sequenced all the previous sequences, confirmed that there were no novel polymorphisms as reported in the original article.
Jeannine Heckmann, the last author of the paper, told us that:
The paper’s findings was the result of a collaborative effort where the work was performed by another department (student and supervisor); when we wanted to take the work forward (myself and a new student), we realised that there were discrepancies in the data which my collaborator could not explain. The hard data obtained from the collaborator showed that proper steps were not taken to verify sequences from both ends in this highly polymorphic promoter. When we re-sequenced the promoter with good coverage and nested PCR to account for insertion/deletion points, we could not verify the previous results. I immediately alerted the journal’s editorial team although it has taken several months for this process to reach completion. Unfortunately, in the interim I know of one paper that has cited this work.