Lack of Association between LOXL1 variants and Primary Open-angle Glaucoma in Three Different Populations
Yutao Liu 1*,
Silke Schmidt 1,
Xuejun Qin 1,
Jason R Gibson 1,
Kristen Hutchins 1,
Cecile Santiago-Turla 2,
Janey L. Wiggs 3,
Donald L Budenz 4,
Stephen Akafo 5,
Pratap Challa 6,
Leon W. Herndon 7,
Michael A Hauser 8,
and
R. Rand Allingham 8
1 Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, United States
2 Ophthalmology, Duke University Eye Center, Durham, North Carolina, United States
3 Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, United States
4 Ophthalmology, Bascom Palmer Eye Institute, Miami, Florida, United States
5 Unit of Ophthalmology, Department of Surgery, University of Ghana Medical School, Korle Bu, Ghana
6 Ophthalmology, Duke University, Durham, North Carolina, United States
7 Glaucoma Service, Duke University Eye Center, Durham, North Carolina, United States
8 Department of Ophthalmology, Duke University Eye Center, Durham, North Carolina, United States; Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, United States
* To whom correspondence should be addressed. E-mail: yutao.liu{at}duke.edu.
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Abstract |
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Purpose: 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 TaqMan 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 to 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 African ancestry.
Key Words:
candidate genes, glaucoma, genetic diseases
