Genomic DNA was extracted from leukocytes of the peripheral blood for each participant. It was purified by the Qiagen QIAmp Blood Kit (Qiagen, Hilden, Germany). Fourteen previously reported SNPs were chosen for genotyping, including rs1900004, rs3858145, rs7916697 at ATOH7, rs10116277, rs1063192, rs2157719, rs4977756, rs523096, rs7049105 at CDKN2B-AS1, rs33912345, and rs10483727 at SIX1/SIX6, rs4656461, and rs7555523 at TMCO1, as well as rs1192415 at TGFEB3-CDC7. The SNPs included in this study were either tagging SNPs referenced to HapMap database or representative SNPs reported significantly associated with development of POAG in previous publications (Burdon et al., 2011 (link), 2012 (link); Fan et al., 2011 (link); Khor et al., 2011 (link); Ramdas et al., 2011 (link); Wiggs et al., 2012 (link); Li et al., 2015 (link)).
Single nucleotide polymorphism genotyping was performed using iPLEX Gold chemistry on the MassARRAY system (Sequenom, Inc., San Diego, CA, United States) by means of matrix assisted laser desorption ionization time-of-flight mass spectrometry method (MALDI-TOF) according to the manufacturer’s instructions. Genotype calling was performed in real time with MassARRAY RT software version 3.0.0.4 and analyzed using the MassARRAY Typer software version 3.4 (Sequenom). Each SNP with call rate greater than 95% was analyzed in the next step.
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