Table 2. Association of SNP markers within the linkage disequilibrium block on chromosome 11q24.1 with pathological myopia in Japanese population.
Meta-analysisc | First stage (N = 1,231) | Second stage (N = 1,510) | |||||||||||
SNP ID | Positiona | Ref.b | Var.b | P-value | OR (95%CI)d | Ref. allele freq. | Nominal P | OR (95%CI)d | Ref. allele freq. | Nominal P | OR (95%CI)d | ||
Case (N = 297) | Control (N = 934) | Case (N = 533) | Control (N = 977) | ||||||||||
rs577948 | 121535400 | A | G* | 2.22×10−7 | 1.37 (1.21–1.54) | 0.40 | 0.50 | 2.80×10−5 | 1.50 (1.24–1.81) | 0.42 | 0.48 | 1.42×10−3 | 1.29 (1.11–1.50) |
rs11218544 | 121544262 | T* | G | 5.48×10−6 | 1.33 (1.18–1.51) | 0.70 | 0.61 | 7.90×10−5 | 1.50 (1.23–1.83) | 0.66 | 0.61 | 8.94×10−3 | 1.24 (1.06–1.44) |
rs10892819 | 121579254 | T | G* | 0.04 | 1.15 (1.01–1.31) | 0.69 | 0.75 | 2.98×10−3 | 1.36 (1.11–1.67) | 0.72 | 0.73 | 0.74 | 1.03 (0.87–1.22) |
rs11218553 | 121590345 | A | G* | 8.28×10−3 | 1.18 (1.04–1.34) | 0.60 | 0.67 | 1.77×10−3 | 1.36 (1.12–1.65) | 0.66 | 0.68 | 0.39 | 1.07 (0.91–1.26) |
The position of markers on chromosome 11 refers to NCBI Build 36.1.
Ref. and Var. are the reference and variant nucleotides, respectively, that are defined on the reference sequence of NCBI Build 36.1.
Statistical results using the Mantel-Haenzel method as a fixed-effect model were shown.
Odds ratios (ORs) were calculated for the causative allele (indicated with an asterisk).