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. Author manuscript; available in PMC: 2015 Oct 1.
Published in final edited form as: Int Ophthalmol Clin. 2014 Fall;54(4):43–56. doi: 10.1097/IIO.0000000000000042

Table 1.

XFS/XFG Risk Alleles for LOXL1 Polymorphisms in Different Study Populations

Population rs3825942
(Gly153Asp)		 rs1048661
(Arg141Leu)		 rs2165241
(Intron 1 of
LOXL1)		 Reference(s)
Iceland/Sweden (Initial GWAS) G G T 9
Australian G G - 34
U.S. Caucasian G G T 29
Central European G G - 22
Finish G G T 31
German/Italian G G T 32
Saudi Arabian G G - 40
Turkish G G - 26
Greek G No association T 24
Indian G No association - 20
Mexican G No association T 16
Polish G No association T 39
Chinese G T C 13,28
Japanese G T C 18,23,25,27,33,37
Korean G T C 19,21
South African A G - 17,36

LOXL1 polymorphisms are strongly associated with risk for XFS/XFG in all populations studied to date. However, the risk alleles for all SNPs are reversed in some study populations. The rs3825942 risk allele is reversed in South Africans. The rs1048661 SNP is not strongly associated with XFS/XFG risk in four populations and is reversed in Chinese, Japanese and Korean populations. The risk allele for the intronic SNP rs2165241 is also reversed in Chinese, Japanese and Korean study cohorts. (“-“ denotes that this SNP has not been genotyped in the population).