{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T10:05:19Z","timestamp":1779271519083,"version":"3.51.4"},"reference-count":32,"publisher":"BMJ","issue":"6","funder":[{"DOI":"10.13039\/501100017649","name":"Hong Kong Government","doi-asserted-by":"publisher","award":["8601668"],"award-info":[{"award-number":["8601668"]}],"id":[{"id":"10.13039\/501100017649","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Health and Medical Research Fund Hong Kong","award":["07180256"],"award-info":[{"award-number":["07180256"]}]},{"name":"Health and Medical Research Fund Hong Kong","award":["14102122"],"award-info":[{"award-number":["14102122"]}]},{"name":"Health and Medical Research Fund Hong Kong","award":["14105320"],"award-info":[{"award-number":["14105320"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Br J Ophthalmol"],"accepted":{"date-parts":[[2025,11,14]]},"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:sec>\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>To evaluate the associations of single-nucleotide polymorphisms (SNPs) in 17 loci with primary open-angle glaucoma (POAG) and subtypes in Chinese and Japanese.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>17 SNPs in 17 genes, selected from a recent genome-wide association study, were genotyped in a Hong Kong Chinese cohort of 1093 POAG patients, including 557 high-tension glaucoma (HTG) and 536 normal-tension glaucoma (NTG) patients, and 584 controls. Seven SNPs showing association in the Hong Kong cohort were genotyped in a Shantou Chinese cohort of 155 POAG patients and 380 controls and an Osaka Japanese cohort of 254 POAG patients and 207 controls. The SNP-disease association of individual and pooled cohorts was analysed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      In combined Chinese and Japanese subjects, three SNPs were significantly associated with POAG:\n                      <jats:italic>AFAP1<\/jats:italic>\n                      rs938604 (\n                      <jats:italic>\n                        P\n                        <jats:sub>meta<\/jats:sub>\n                      <\/jats:italic>\n                      =6.40\u00d710\n                      <jats:sup>\u22125<\/jats:sup>\n                      , OR=0.70),\n                      <jats:italic>FNDC3B<\/jats:italic>\n                      rs62283813 (\n                      <jats:italic>\n                        P\n                        <jats:sub>meta<\/jats:sub>\n                      <\/jats:italic>\n                      =0.0050, OR=1.24) and\n                      <jats:italic>GAS7<\/jats:italic>\n                      rs9913911 (\n                      <jats:italic>\n                        P\n                        <jats:sub>meta<\/jats:sub>\n                      <\/jats:italic>\n                      =0.0060, OR=1.19). In subgroup analysis, these three SNPs showed stronger association with HTG:\n                      <jats:italic>AFAP1<\/jats:italic>\n                      rs938604 (\n                      <jats:italic>\n                        P\n                        <jats:sub>meta<\/jats:sub>\n                      <\/jats:italic>\n                      =8.00\u00d710\n                      <jats:sup>\u22126<\/jats:sup>\n                      , OR=0.59),\n                      <jats:italic>FNDC3B<\/jats:italic>\n                      rs62283813 (\n                      <jats:italic>\n                        P\n                        <jats:sub>meta<\/jats:sub>\n                      <\/jats:italic>\n                      =6.00\u00d710\n                      <jats:sup>\u22127<\/jats:sup>\n                      , OR=1.55) and\n                      <jats:italic>GAS7<\/jats:italic>\n                      rs9913911 (\n                      <jats:italic>\n                        P\n                        <jats:sub>meta<\/jats:sub>\n                      <\/jats:italic>\n                      =0.0040, OR=1.24). In addition,\n                      <jats:italic>SPRED2<\/jats:italic>\n                      rs4414666 (\n                      <jats:italic>\n                        P\n                        <jats:sub>meta<\/jats:sub>\n                      <\/jats:italic>\n                      =8.00\u00d710\n                      <jats:sup>\u22124<\/jats:sup>\n                      , OR=1.29) was also significantly associated with HTG. No SNP showed a significant association with NTG.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      This study confirms\n                      <jats:italic>AFAP1<\/jats:italic>\n                      rs938604,\n                      <jats:italic>FNDC3B<\/jats:italic>\n                      rs62283813,\n                      <jats:italic>GAS7<\/jats:italic>\n                      rs9913911 and\n                      <jats:italic>SPRED2<\/jats:italic>\n                      rs4414666 as HTG-specific loci in Chinese and Japanese populations. These findings provide new insights into the genetic architecture of POAG, highlighting distinct molecular mechanisms between HTG and NTG subtypes.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/bjo-2025-328041","type":"journal-article","created":{"date-parts":[[2025,12,3]],"date-time":"2025-12-03T18:20:32Z","timestamp":1764786032000},"page":"627-634","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Association of polymorphisms in 17 loci with primary open-angle glaucoma in Chinese and Japanese"],"prefix":"10.1136","volume":"110","author":[{"given":"Shu Ying","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anni","family":"Ling","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Poemen P","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China"},{"name":"Hong Kong Eye Hospital, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3219-1329","authenticated-orcid":false,"given":"Chukai","family":"Huang","sequence":"additional","affiliation":[{"name":"Joint Shantou International Eye Centre of Shantou University and The Chinese University of Hong Kong, Shantou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rumi","family":"Kawashima","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Osaka University Graduate School of Medicine, Suita, Osaka, 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China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2156-1486","authenticated-orcid":false,"given":"Jason C","family":"Yam","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China"},{"name":"Hong Kong Eye Hospital, Hong Kong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kohji","family":"Nishida","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Osaka University Graduate School of Medicine, Suita, Osaka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Motokazu","family":"Tsujikawa","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Osaka University Graduate School of Medicine, Suita, Osaka, 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