LOXL1 variants in elderly Japanese patients with exfoliation syndrome/glaucoma, primary open-angle glaucoma, normal tension glaucoma, and cataract
LOXL1 variants in elderly Japanese patients with exfoliation syndrome/glaucoma, primary open-angle glaucoma, normal tension glaucoma, and cataract
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发表时间：
2008-10
期刊：
影响因子：
2.2
通讯作者：
M. Tanito;M. Minami;M. Akahori;Sachiko Kaidzu;Yasuyuki Takai;A. Ohira;T. Iwata
中科院分区：
文献类型：
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作者：
M. Tanito;M. Minami;M. Akahori;Sachiko Kaidzu;Yasuyuki Takai;A. Ohira;T. Iwata
目的探讨赖氨酰氧化酶样蛋白1(LOXL1)基因变异与日本人开角型青光眼的相关性。方法我们研究了142例日本剥脱性综合征(EX；n=59)和剥脱性青光眼(EG；n=83)患者以及251例70岁或以上的对照组(包括原发性开角型青光眼(PG；n=40)、正常眼压性青光眼(NG；n=54)和白内障(CT；n=157))中三个LOXL1基因变异(rs1048661、rs3825942和rs2165241)的相关性。结果与CT组比较，单核苷酸多态(SNPs)与EX、EG、EX+EG显著相关。等位基因T的优势比(OR)=19.71-28.23，P=1.69×10-−23-3.00×10-−45；等位基因G的优势比OR=28.21-39.78，P=1.77×10-−8-2.42×10-−22；等位基因C的优势比OR=16.59-23.40，P=4.79×10−5-1.08x10−9。与对照组(CT+PG+NG)相比，单倍型rs1048661/rs3825942(T/G)与EX+EG显著相关(p=8.27×10−44)，单倍型G/A具有显著的保护作用(p=2.25×10−14)。这三个SNP在EX组和EG组之间以及PG组和NG组之间均未显示出显著差异。结论在日本人群中，这些SNP与剥脱综合征/青光眼相关。Rs1048661和rs2165241的风险等位基因与其他群体不同。除这些LOXL1 SNP外，其他遗传或环境风险因素可能与剥脱综合征和剥脱综合征患者的剥脱性青光眼的发生有关。
Purpose To evaluate the association of lysyl oxidase like 1 (LOXL1) gene variants in Japanese patients with open-angle glaucoma. Methods We evaluated the association of three LOXL1 variants (rs1048661, rs3825942, and rs2165241) in 142 Japanese patients with exfoliation syndrome (EX; n=59) and exfoliation glaucoma (EG; n=83) as well as in 251 control patients aged 70 years or older with primary open-angle glaucoma (PG; n=40), normal tension glaucoma (NG; n=54), and cataract (CT; n=157). Results In comparison with the CT group, the single nucleotide polymorphisms (SNPs) showed significant association with EX, EG, and EX+EG. The odds ratio (OR)=19.71–28.23 and p=1.69x10−23-3.00x10−45 for allele T of rs1048661; OR=28.21–39.78 and p=1.77x10−8-2.42x10−22 for allele G of rs3825942; and OR=16.59–23.40 and p=4.79x10−5-1.08x10−9 for allele C of rs2165241. In comparison with the controls (CT+PG+NG), the haplotype rs1048661/rs3825942 (T/G) was significantly associated with EX+EG (p=8.27x10−44), and haplotype G/A had a significant protective effect (p=2.25x10−14). None of the three SNPs showed significant differences between the EX and EG groups or between the PG and NG groups. Conclusions These SNPs are associated with exfoliation syndrome/glaucoma in the Japanese population. The risk alleles in rs1048661 and rs2165241 are different from other populations. Additional genetic or environmental risk factors other than these LOXL1 SNPs could be associated with the development of exfoliation syndrome as well as exfoliation glaucoma among exfoliation syndrome patients.