《Table 1 Leading SNPs in the 21 identified loci associated with IOP (N=8, 552) a)》

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《Genome-wide analysis identified 17 new loci influencing intraocular pressure in Chinese population》

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a) Discovery and replication IOP quantitative traits were computed by Plink 1.9.BETA，regression coefficient；SE，standard error.P value，Wald test asymptotic P value.SNP，P values and z scores of meta-analysis were computed in METAL by a weighted z-score m

A total of 17 novel and significant independent loci were identified for IOP in this study（Figure 1，Table 1B），with the regional association of these loci shown in Figure 2.Most of the associated SNPs were located in at least 1 of the regulatory elements in HaploReg v3（see Web Resources in Supporting Information）.HaploReg v3 is a tool for exploring annotations of the human genome at variants on haplotype blocks，based on epigenomes from the roadmap（see Web Resources in Supporting Information）.The regulating elements in these regions are listed in Table S3 in Supporting Information.In total，5 SNPs near genes in the IOP-associated loci identified here were，according to previous reports，associated with ocular-related phenotypes:rs1282146，rs7525308，rs11078446，rs4514918，and rs201143466；rs1282146 is located between genes LRIF1 and DRAM2（P=1.16×10–8，1p13.3）；DRAM2 plays a role in the initiation of autophagy，which involves the renewal and recycling processes of photoreceptor cells in order to preserve their visual function（Yoon et al.，2012）.Mutations of this gene cause cone-rod dystrophy and fundus dystrophy（El-Asrag et al.，2015；Sergouniotis et al.，2015）；rs7525308 is a synonymous variant in PTCH2（p.A685A，P=2.06×10–12）and in1p34.1.PTCH2 encodes a transmembrane receptor，and its mutation can result in coloboma in zebrafish（Lee et al.，2012）.SNP rs11078446 is located in the intron of CRK in17p13.3（P=1.49×10–13）.CRK plays overlapping roles，downstream of FGF:It signals to regulate lens fiber-cell elongation in mice（Collins et al.，2018）and participates in activating Rac1 during the glial engulfment of axonal debris in Drosophila（Lu et al.，2014）；rs201143466 is locateddownstream of COLEC11 in 2p25.3（P=6.61×10–10）.This gene encodes a C-type lectin that possesses collagen-like sequences；COLEC11 mutations can result in 3MC syndrome，characterized by facial dysmorphism（Rooryck et al.，2011）；rs4514918 is located in the intron of SPTBN1 in2p16.2（P=1.83×10–11）and might be accountable for primary congenital glaucoma（Buphthalmos）phenotype（Sarfarazi et al.，1995）.Recently，another SNP rs4627617 in an independent linkage disequilibrium（LD）of rs4514918 in SPTBN1 is reported to be associated with IOP in Caucasian people（Khawaja et al.，2018；MacGregor et al.，2018）.