Table 1.
Characteristics of cases (high myopes with myopic macular degeneration [MMD]) versus controls in first control set (emmetropes) and second control set (high myopes without MMD).
Fig 1.
Plot of the effect on high myopia in highly myopic subjects with myopic macular degeneration for (A) rs10824518, (B) rs524952, and (C) rs13380104 in the population cohorts in first case-control study. For each cohort, the circle shows the β linear regression coefficient and the bars represent the standard error for the estimate. BMES, the Blue Mountains Eye Study, Australia; RS-I, the first Rotterdam Study cohort, Netherlands; RS-II, the second Rotterdam Study cohort, Netherlands; RS-III, the third Rotterdam Study cohort, Netherlands; GHS1, the first Gutenberg Health Study cohort, Germany; GHS2, the second Gutenberg Health Study cohort, Germany; SCES, the Singapore Chinese Eye Study, Singapore; SiMES, the Singapore Malay Eye Study, Singapore; SINDI, the Singapore Indian Eye Study, Singapore; Nagahama, the Nagahama Study cohort, Japan.
Table 2.
List of the 10 SNPs most significantly associated with HM in highly myopic subjects with myopic macular degeneration (MMD) from the meta-analysis in first case-control study (cases [high myopes with MMD] versus first control set [emmetropes]).
Table 3.
List of the 10 SNPs most significantly associated with myopic macular degeneration (MMD) exclusively from the meta-analysis in second case-control study (cases [high myopes with MMD] versus second control set [high myopes without MMD]).
Fig 2.
Quantile-quantile plots for the meta-analyses in first and second case-control studies.
(A) Q-Q plot for association between analysed SNPs and HM in high myopes with MMD in first case-control study (highly myopic cases with MMD versus emmetropic controls without MMD); (B) Q-Q plot for association between analysed SNPs and MMD specifically in second case-control study (highly myopic cases with MMD versus highly myopic controls without MMD). Each dot represents an observed statistic (defined as–log10p) versus the corresponding expected statistic. The red line corresponds to the null distribution. The shaded areas represent the 95% confidence intervals.
Fig 3.
Association plots of effect sizes for the meta-analyses in first and second case-control studies.
(A) Relation of effect sizes observed in original study for myopia (Pickrell et al 2016) versus that in the first case-control study (highly myopic cases with MMD versus emmetropic controls without MMD) for HM in high myopes with MMD; (B) Relation of effect sizes in first case-control study (highly myopic cases with MMD versus emmetropic controls without MMD) for development of MMD in those with HM versus that in the second case-control study (highly myopic cases with MMD versus highly myopic controls without MMD) for MMD specifically.
Table 4.
Expression of KCNMA1 in the various human eye tissues.