[Statistical model analysis of primary angle closure glaucoma associated genes and SNP]

To evaluate GWAS significant associated SNP for primary angle closure glaucoma.

Experimental study. Taking advantage of different statistical models, the usefulness was evaluated by sensitivity, specificity and the area under the receiver-operating characteristic curve (ROC), which indicates the accuracy of genetic profiling in discriminating between primary angle closure glaucoma patients and normal controls.

rs11024102 (PLEKHA7) had a sensitivity of 55.88% with a specificity of 51.31%; the sensitivity and specificity of rs3753841 (COL11A1) was 54.47% and 51.00% respectively. The sensitivity of rs1015213 (PCNTD1-ST18) and rs1401999 (ABCC5) were 59.93% and 52.97%. The specificity of these two SNP were 45.32% and 50.00%. The positive predictive value curves of these four SNP were nearly reference line. The area under the curve (AUC) of four SNP combined was 0.51 and 0.52 in two situations.

These four GWAS significant SNP could not be used for primary angle closure glaucoma patients screening in clinic.