{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T05:30:17Z","timestamp":1783402217608,"version":"3.54.6"},"reference-count":45,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,3,6]],"date-time":"2014-03-06T00:00:00Z","timestamp":1394064000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2014,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Primary open angle glaucoma (<jats:styled-content style=\"fixed-case\">POAG<\/jats:styled-content>) is characterized by optic disc cupping and irreversible loss of retinal ganglion cells. Few genes have been detected that influence <jats:styled-content style=\"fixed-case\">POAG<\/jats:styled-content> susceptibility and little is known about its genetic architecture. In this study, we employed exome sequencing on three members from a high frequency <jats:styled-content style=\"fixed-case\">POAG<\/jats:styled-content> family to identify the risk factors of <jats:styled-content style=\"fixed-case\">POAG<\/jats:styled-content> in Chinese population. Text\u2010mining method was applied to identify genes associated with glaucoma in literature, and protein\u2013protein interaction networks were constructed. Furthermore, reverse transcription <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content> and Western blot were performed to confirm the differential gene expression. Six genes, baculoviral inhibitors of apoptosis protein repeat containing 6 (<jats:italic><jats:styled-content style=\"fixed-case\">BIRC<\/jats:styled-content>6<\/jats:italic>), <jats:italic><jats:styled-content style=\"fixed-case\">CD<\/jats:styled-content>2<\/jats:italic>, luteinizing hormone\/choriogonadotropin receptor (<jats:italic><jats:styled-content style=\"fixed-case\">LHCGR<\/jats:styled-content><\/jats:italic>), polycystic kidney and hepatic disease gene 1 (<jats:italic><jats:styled-content style=\"fixed-case\">PKHD<\/jats:styled-content>1<\/jats:italic>), phenylalanine hydroxylase (<jats:italic><jats:styled-content style=\"fixed-case\">PAH<\/jats:styled-content><\/jats:italic>) and fucosyltransferase 7 (<jats:italic><jats:styled-content style=\"fixed-case\">FUT<\/jats:styled-content>7<\/jats:italic>), which might be associated with <jats:styled-content style=\"fixed-case\">POAG<\/jats:styled-content>, were identified. Both the m<jats:styled-content style=\"fixed-case\">RNA<\/jats:styled-content> expression levels and protein expression levels of <jats:styled-content style=\"fixed-case\">HSP<\/jats:styled-content>27 were increased in astrocytes from <jats:styled-content style=\"fixed-case\">POAG<\/jats:styled-content> patients compared with those from normal control, suggesting that mutation in <jats:styled-content style=\"fixed-case\">CD<\/jats:styled-content>2 might pose a risk for <jats:styled-content style=\"fixed-case\">POAG<\/jats:styled-content> in <jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>hinese population. In conclusion, novel rare variants detected by exome sequencing may hold the key to unravelling the remaining contribution of genetics to complex diseases such as <jats:styled-content style=\"fixed-case\">POAG<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/jcmm.12201","type":"journal-article","created":{"date-parts":[[2014,3,6]],"date-time":"2014-03-06T07:12:50Z","timestamp":1394089970000},"page":"600-609","source":"Crossref","is-referenced-by-count":15,"title":["Family\u2010based analysis identified <scp>CD<\/scp>2 as a susceptibility gene for primary open angle glaucoma in Chinese Han population"],"prefix":"10.1111","volume":"18","author":[{"given":"Ting","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Ophthalmology Daping Hospital &amp; Research Institute of Surgery Third Military Medical University of PLA Chongqing 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