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The<jats:italic>MAPT<\/jats:italic>H1 haplotype has been associated with progressive supranuclear palsy, corticobasal degeneration, Parkinson\u2019s disease and Alzheimer\u2019s disease, while the H2 is linked to recurrent deletion events associated with the 17q21.31 microdeletion syndrome, a disease characterized by developmental delay and learning disability.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In this study, we investigate the effect of the inversion on the expression of genes in the 17q21.31 region. We find the expression of several genes in and at the borders of the inversion to be affected; specific either to whole blood or different regions of the human brain. The H1 haplotype was found to be associated with an increased expression of<jats:italic>LRRC37A4<\/jats:italic>,<jats:italic>PLEKH1M<\/jats:italic>and<jats:italic>MAPT<\/jats:italic>. In contrast, a decreased expression of<jats:italic>MGC57346<\/jats:italic>,<jats:italic>LRRC37A<\/jats:italic>and<jats:italic>CRHR1<\/jats:italic>was associated with H1.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Studies thus far have focused on the expression of<jats:italic>MAPT<\/jats:italic>in the inversion region. However, our results show that the inversion status affects expression of other genes in the 17q21.31 region as well. Given the link between the inversion status and different neurological diseases, these genes may also be involved in disease pathology, possibly in a tissue-specific manner.<\/jats:p><\/jats:sec>","DOI":"10.1186\/1471-2164-13-458","type":"journal-article","created":{"date-parts":[[2012,9,6]],"date-time":"2012-09-06T06:14:41Z","timestamp":1346912081000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":83,"title":["Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner"],"prefix":"10.1186","volume":"13","author":[{"given":"Simone","family":"de Jong","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iouri","family":"Chepelev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Janson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Strengman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonard H","family":"van den Berg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan H","family":"Veldink","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roel A","family":"Ophoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,9,6]]},"reference":[{"issue":"4","key":"4760_CR1","doi-asserted-by":"publisher","first-page":"711","DOI":"10.1093\/hmg\/8.4.711","volume":"8","author":"M Baker","year":"1999","unstructured":"Baker M, Litvan I, Houlden H, Adamson J, Dickson D, Perez-Tur J, Hardy J, Lynch T, Bigio E, Hutton M: Association of an extended haplotype in the tau gene with progressive supranuclear palsy. 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