Lysyl oxidase-like 1 polymorphisms and exfoliation syndrome in the Japanese population
Lysyl oxidase-like 1 polymorphisms and exfoliation syndrome in the Japanese population
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DOI：
10.1016/j.ajo.2007.10.023
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发表时间：
2008-03-01
影响因子：
4.2
通讯作者：
Yoshimura, Nagahisa
中科院分区：
文献类型：
--
作者：
Hayashi, Hisako;Gotoh, Norimoto;Yoshimura, Nagahisa
目的：研究赖氨酰氧化酶样 1 (LOXL1) 基因的两个单核苷酸多态性 (SNP) 对日本人群中 XFS 和 XFG 发生的影响，最近显示这两个单核苷酸多态性 (SNP) 与北欧人群中的剥脱性综合征 (XFS) 和剥脱性青光眼 (XFG) 相关。设计：病例对照关联研究。方法：总共 59 名不相关的日本个体招募了 XFS、27 名 XFG 患者和 190 名基于人群的对照。 LOXL1 基因中的 SNP rs1048661 (R141L) 和 rs3825942 (G153D) 直接进行基因分型。对这两个 SNP 和推断的单倍型进行了关联测试。 结果：据报道，rs1048661 中 G 等位基因的频率（据报道是白人的功能性风险等位基因）仅在日本 XFS 病例中的 0.8% 中存在，但在对照中出现的频率要高得多 (46.0%)，产生的 P 值为 3.0 x 10(-19)，T 等位基因的比值比为rs1048661 为 99.8（95% 置信区间，13.8 至 722）。对于 rs3825942，G 等位基因（XFS 白人中另一个可能的风险等位基因）的频率为 1.000，而对照组为 0.857（P = 1.4 x 10(-5)）。日本 XFS 患者中最常见的单倍型是单倍型 (T,G) (99.2%)。在白人中产生最高风险的 (G,G) 单倍型仅存在于一小部分日本 XFS 病例中 (0.8%)。 结论：LOXL1 基因的 SNP rs1048661 和 rs3825942 似乎与日本人群中的 XFS 高度相关，但 LOXL1 的不同多态性可能导致日本人群中 XFS 的发生。
PURPOSE: To investigate the contribution of two single,nucleotide polymorphisms (SNPs) of the lysyl oxidase-like 1 (LOXL1) gene, recently shown to be associated with exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) in the Nordic population, to the occurrence of XFS and XFG in the Japanese population.DESIGN: Case-control association study.METHODS: A total of 59 unrelated Japanese individuals with XFS, 27 XFG patients, and 190 population-based controls were recruited. The SNPs rs1048661 (R141L) and rs3825942 (G153D) in the LOXL1 gene were genotyped directly. Association tests were performed for the two SNPs and inferred haplotypes.RESULTS: The frequency of the G allele in rs1048661, reportedly a functional risk allele in White persons existed in only 0.8% of Japanese XFS cases, but occurred with much higher frequency in controls (46.0%) and yielded a P value of 3.0 x 10(-19), and the odds ratio for the T allele in rs1048661 was 99.8 (95% confidence interval, 13.8 to 722). For rs3825942, the frequency of the G allele, which is another possible risk allele in White persons with XFS, was 1.000 vs 0.857 in the controls (P = 1.4 x 10(-5)). The most frequent haplotype in Japanese XFS patients was haplotype (T,G) (99.2%). The (G,G) haplotype, which generates the highest risk in White persons, was present in only a small percentage of Japanese XFS cases (0.8%).CONCLUSIONS: The SNPs rs1048661 and rs3825942 of the LOXL1 gene seem to be highly associated with XFS in the Japanese population, but a different polymorphism of LOXL1 may cause the development of XFS in the Japanese population.