Hayashi Hisako, Gotoh Norimoto, Ueda Yoshiki, Nakanishi Hideo, Yoshimura Nagahisa
Department of Ophthalmology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Am J Ophthalmol. 2008 Mar;145(3):582-585. doi: 10.1016/j.ajo.2007.10.023. Epub 2008 Jan 16.
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.
Case-control association study.
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.
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 3.0x10(-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=1.4x10(-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%).
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.
研究赖氨酰氧化酶样1（LOXL1）基因的两个单核苷酸多态性（SNP）对日本人群中剥脱综合征（XFS）和剥脱性青光眼（XFG）发病的影响。这两个SNP最近在北欧人群中被证明与XFS和XFG相关。
病例对照关联研究。
共招募了59名无亲缘关系的日本XFS患者、27名XFG患者和190名基于人群的对照。直接对LOXL1基因中的SNP rs1048661（R141L）和rs3825942（G153D）进行基因分型。对这两个SNP和推断的单倍型进行关联测试。
rs1048661中的G等位基因频率在日本XFS病例中仅为0.8%，据报道在白种人中它是一个功能性风险等位基因，但在对照中出现频率更高（46.0%），P值为3.0×10^(-19)，rs1048661中T等位基因的优势比为99.8（95%置信区间，13.8至722）。对于rs3825942，G等位基因频率在XFS白种人中是另一个可能的风险等位基因，在对照中为0.857，而在患者中为1.000（P = 1.4×10^(-5)）。日本XFS患者中最常见的单倍型是单倍型（T，G）（99.2%）。在白种人中产生最高风险的（G，G）单倍型在日本XFS病例中仅占一小部分（0.8%）。
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。
