Genetic association of LOXL1 gene variants and exfoliation glaucoma in a Utah cohort

被引：42

作者：

Yang, Xian ^{[1
,2
,3
]}

Zabriskie, Norman A. ^{[1
]}

Hau, Vincent S. ^{[1
]}

Chen, Haoyu ^{[1
,2
]}

Tong, Zongzhong

Gibbs, Daniel ^{[1
,2
]}

Farhi, Parisa ^{[1
]}

Katz, Bradley J. ^{[1
]}

Luo, Ling ^{[1
,2
]}

Pearson, Erik ^{[1
,2
]}

Goldsmith, Jason ^{[1
]}

Ma, Xiang ^{[1
,2
]}

Kaminoh, Yukki ^{[1
,2
]}

Chen, Yuhong ^{[1
,2
]}

Yu, Baifeng ^{[1
,2
]}

Zeng, Jiexi ^{[1
,2
]}

Zhang, Kang ^{[1
,2
]}

Yang, Zhenglin ^{[1
,2
,4
,5
]}

机构：

[1] Univ Utah, Moran Eye Ctr, Sch Med, Dept Ophthalmol & Visual Sci, 65 N Med Dr, Salt Lake City, UT 84132 USA

[2] Univ Utah, Sch Med, Program Human Mol Biol & Genet, Eccles Inst Human Genet, Salt Lake City, UT 84132 USA

[3] Qingdao Univ, Coll Med, Dept Ophthalmol, Qingdao, Peoples R China

[4] Sichuan Acad Med Sci, Dept Human Mol Biol & Genet, Chengdu, Sichuan, Peoples R China

[5] Sichuan Provincial Peoples Hosp, Chengdu, Sichuan, Peoples R China

来源：

CELL CYCLE | 2008年 / 7卷 / 04期

关键词：

exfoliation glaucoma; exfoliation syndrome; LOXL1; gene; single nucleotide polymorphism; genetics;

D O I：

10.4161/cc.7.4.5388

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Exfoliation glaucoma (XFG) is the commonest identifiable cause of secondary open-angle glaucoma worldwide, characterized by the deposition of fibrillar proteins in the anterior segment of the eye. We investigated LOXL1 gene variants previously identified to confer susceptibility to XFG in a Utah Caucasian cohort. After a standard eye examination protocol we genotyped SNPs rs2165241 and rs3825942 in 62 XFG or exfoliation syndrome (XFS) patients and 170 normal controls. Genotype frequency distribution, odds ratios (ORs) and population attributable risks were calculated for the risk alleles. The SNP rs2165241 was significantly associated with XFG and XFS (p = 4.13 x 10(-9) for an additive model, ORhet = 4.42 (2.30-8.50), ORhom = 34.19 (4.48-261.00); T allele: 83.1% in cases versus 52.4% in controls). Significant association was also found for rs3825942: (p = 1.89 x 10(-6)). Our findings confirm genetic association of LOXL1 with XFG and XFS and implicate a potential role of cross linking of elastin in the pathogenesis of XFG. This information will potentially guide glaucoma monitoring efforts by targeting individuals whose genetic profiles put them at higher risk for XFG.

引用

页码：521 / 524

页数：4

共 27 条

[1]

AASVED H, 1975, ACTA OPHTHALMOL, V53, P879

[2] LENS DISPLACEMENT ASSOCIATED WITH PSEUDOCAPSULAR EXFOLIATION - A REPORT ON 19 CASES IN SOUTHERN BANTU [J].

BARTHOLOMEW, RS .

BRITISH JOURNAL OF OPHTHALMOLOGY, 1970, 54 (11) :744-+

[3]

CEISLER EJ, 1994, INVEST OPHTH VIS SCI, V35, P1471

[4] The definition and classification of glaucoma in prevalence surveys [J].

Foster, PJ ;

Buhrmann, R ;

Quigley, HA ;

Johnson, GJ .

BRITISH JOURNAL OF OPHTHALMOLOGY, 2002, 86 (02) :238-242

[5]

Goder G J, 1988, Acta Ophthalmol Suppl, V184, P126

[6] Glaucoma as a neurodegenerative disease [J].

Gupta, Neeru ;

Yuecel, Yeni H. .

CURRENT OPINION IN OPHTHALMOLOGY, 2007, 18 (02) :110-114

[7] The risk of glaucoma in pseudoexfoliation syndrome [J].

Jeng, Samuel M. ;

Karger, Randv A. ;

Hodge, David O. ;

Burke, James P. ;

Johnson, Douglas H. ;

Good, Margaret S. .

JOURNAL OF GLAUCOMA, 2007, 16 (01) :117-121

[8] EXFOLIATION SYNDROME [J].

LAYDEN, WE ;

SHAFFER, RN .

AMERICAN JOURNAL OF OPHTHALMOLOGY, 1974, 78 (05) :835-841

[9]

LEVIN ML, 1978, AM J EPIDEMIOL, V108, P78

[10] Elastic fiber homeostasis requires lysyl oxidase-like 1 protein [J].

Liu, XQ ;

Zhao, Y ;

Gao, JG ;

Pawlyk, B ;

Starcher, B ;

Spencer, JA ;

Yanagisawa, H ;

Zuo, J ;

Li, TS .

NATURE GENETICS, 2004, 36 (02) :178-182

← 1 2 3 →