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However, its association with normal\u2010tension glaucoma (NTG) was inconclusive. Therefore, we evaluated this association in Chinese and Japanese.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Two single\u2010nucleotide polymorphisms (SNPs, rs4236601 and rs1052990) from previous genome\u2010wide association studies of POAG were genotyped in a total of 2220 study subjects: a Hong Kong Chinese cohort of 537 NTG patients and 490 controls, a Shantou Chinese cohort of 102 NTG and 731 controls and an Osaka Japanese cohort of 153 NTG and 207 controls. Subgroup analysis by gender was conducted. Outcomes from different cohorts were combined using meta\u2010analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>SNP rs4236601 was significantly associated with NTG in the two Chinese cohorts (<jats:italic>P<\/jats:italic><jats:sub>meta<\/jats:sub> = .0019, OR = 4.55, <jats:italic>I<\/jats:italic><jats:sup>2<\/jats:sup> =\u20090). In contrast, rs4236601 was monomorphic in the Osaka cohort. The association of rs1052990 was insignificant in a meta\u2010analysis combining Chinese and Japanese cohorts (<jats:italic>P<\/jats:italic><jats:sub>meta<\/jats:sub> = .81, OR = 1.05; <jats:italic>I<\/jats:italic><jats:sup>2<\/jats:sup> =\u200964%), and the OR tended towards opposite directions between Chinese (OR = 1.26) and Japanese (OR = 0.69). Gender\u2010specific effects of the SNPs were not statistically significant in the logistic regression or Breslow\u2010day tests of ORs (<jats:italic>P<\/jats:italic>\u2009&gt;\u2009.05), although rs4236601 was significant in males (<jats:italic>P<\/jats:italic> = .0068; OR = 10.30) but not in females (<jats:italic>P<\/jats:italic> = .14; OR = 2.65) in the meta\u2010analysis of Chinese subjects.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>In this study, we confirmed the association of rs4236601 at the <jats:italic>CAV1<\/jats:italic>\u2010<jats:italic>CAV2<\/jats:italic> locus with NTG in Chinese. SNP rs4236601 is monomorphic, and rs1052990 tends towards a different direction in the Japanese cohort. Further studies are warranted to verify the ethnic difference and gender\u2010specific effects of this locus.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ceo.13744","type":"journal-article","created":{"date-parts":[[2020,3,12]],"date-time":"2020-03-12T04:12:06Z","timestamp":1583986326000},"page":"658-665","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Association of the <i>CAV1<\/i>\u2010<i>CAV2<\/i> locus with normal\u2010tension glaucoma in Chinese and Japanese"],"prefix":"10.1111","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6828-233X","authenticated-orcid":false,"given":"Shi Yao","family":"Lu","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":"Shi Song","family":"Rong","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences the Chinese University of Hong Kong  Hong Kong China"},{"name":"Department of Ophthalmology, Massachusetts Eye and Ear Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhenggen","family":"Wu","sequence":"additional","affiliation":[{"name":"Joint Shantou International Eye Center of Shantou University and the Chinese University of Hong Kong  Shantou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chukai","family":"Huang","sequence":"additional","affiliation":[{"name":"Joint Shantou International Eye Center of Shantou University and the Chinese University of Hong Kong  Shantou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Matsushita","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Osaka University Graduate School of Medicine  Osaka 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