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. Author manuscript; available in PMC: 2019 Aug 7.
Published in final edited form as: Nat Genet. 2017 May 29;49(7):993–1004. doi: 10.1038/ng.3875

Table 1.

Association of all rare, non-synonymous variants at LOXL1 and risk of exfoliation syndrome. No additional filters by functional effect prediction algorithms were applied. Frequencies for rare variant carriers are given in percentages.

Collection N cases N controls Allele
burden
cases
Allele
burden
controls
Carrier
freq cases
Carrier
freq
controls
Allele OR L95 U95 P

Japanese 2827 3013 34 100 1.20 3.32 0.36 0.24 0.53 8.03 × 10−8
Greece 355 1075 3 17 0.85 1.58 0.53 0.16 1.82 0.44
Italy 454 267 10 3 2.20 1.12 1.97 0.54 7.19 0.39
Russia 476 859 2 5 0.42 0.58 0.72 0.14 3.72 1
USA 212 161 2 2 0.94 1.24 0.76 0.11 5.41 1
Mexico 116 205 2 9 1.72 4.39 0.39 0.083 1.81 0.34
South Africa 95 250 1 21 1.05 8.40 0.12 0.016 0.90 0.014
India 648 263 12 8 1.85 3.04 0.61 0.25 1.49 0.32
Pakistan 383 186 7 4 1.83 2.15 0.85 0.25 2.92 0.76

Stratified meta-analysis for all sequenced collections 0.46 0.34 0.62 4.2 × 10−7