Lack of association between LOXL1 variants and primary open-angle glaucoma in three different populations.
OBJECTIVE
Significant association has recently been reported between pseudoexfoliation glaucoma (XFG) and two single-nucleotide polymorphisms (SNPs), rs3825942, and rs1048661, in the lysyl oxidase-like 1 gene (LOXL1). The purpose of this study was to investigate whether XFG-associated variants of LOXL1 play a significant role in primary open-angle glaucoma in the Caucasian, African-American, and Ghanaian (West-African) populations.


METHODS
POAG was defined as the presence of glaucomatous optic nerve damage, associated visual field loss, and elevated intraocular pressure (>22 mm Hg in both eyes). Thirteen tagging SNPs were genotyped by allelic discrimination assays in the Caucasian (279 cases and 227 controls), African-American (193 cases and 97 controls), and Ghanaian (170 cases and 138 controls) populations. Allele and genotype frequencies were compared between the cases and controls from each population.


RESULTS
None of the SNPs associated with XFG in LOXL1 were significantly associated with POAG in these populations. The risk allele frequencies for rs2165241 and rs3825942 were significantly lower in the African-American and Ghanaian populations, compared with Caucasian individuals.


CONCLUSIONS
There was no association between SNPs in the LOXL1 gene and POAG. This is the first analysis of the LOXL1 gene in African-American and West-African populations. LOXL1 gene variants do not appear to play a significant role in the pathogenesis of POAG in populations of either Caucasian or West-African ancestry.
Liu
Yutao
Y
Center for Human Genetics, Duke University Eye Center, Duke University Medical Center, Durham, North Carolina 27710, USA.
Schmidt
Silke
S
Qin
Xuejun
X
Gibson
Jason
J
Hutchins
Kristen
K
Santiago-Turla
Cecile
C
Wiggs
Janey L
JL
Budenz
Donald L
DL
Akafo
Stephen
S
Challa
Pratap
P
Herndon
Leon W
LW
Hauser
Michael A
MA
Allingham
R Rand
RR
D001741:Black or African American / Q000235:genetics*; D000594:Amino Acid Oxidoreductases / Q000235:genetics*; D017889:Exfoliation Syndrome / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005869:Ghana / Q000208:ethnology; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006801:Humans; D007429:Intraocular Pressure; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D044465:White People / Q000235:genetics*
D000594:Amino Acid Oxidoreductases; C445313:LOXL1 protein, human