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Lysyl oxidase-like 1 polymorphisms and exfoliation syndrome in the Japanese population.
Am J Ophthalmol. 2008 Mar; 145(3):582-585.AJ

Abstract

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 3.0x10(-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%).

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.

Authors+Show Affiliations

Department of Ophthalmology, Kyoto University Graduate School of Medicine, Kyoto, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18201684

Citation

Hayashi, Hisako, et al. "Lysyl Oxidase-like 1 Polymorphisms and Exfoliation Syndrome in the Japanese Population." American Journal of Ophthalmology, vol. 145, no. 3, 2008, pp. 582-585.
Hayashi H, Gotoh N, Ueda Y, et al. Lysyl oxidase-like 1 polymorphisms and exfoliation syndrome in the Japanese population. Am J Ophthalmol. 2008;145(3):582-585.
Hayashi, H., Gotoh, N., Ueda, Y., Nakanishi, H., & Yoshimura, N. (2008). Lysyl oxidase-like 1 polymorphisms and exfoliation syndrome in the Japanese population. American Journal of Ophthalmology, 145(3), 582-585. https://doi.org/10.1016/j.ajo.2007.10.023
Hayashi H, et al. Lysyl Oxidase-like 1 Polymorphisms and Exfoliation Syndrome in the Japanese Population. Am J Ophthalmol. 2008;145(3):582-585. PubMed PMID: 18201684.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Lysyl oxidase-like 1 polymorphisms and exfoliation syndrome in the Japanese population. AU - Hayashi,Hisako, AU - Gotoh,Norimoto, AU - Ueda,Yoshiki, AU - Nakanishi,Hideo, AU - Yoshimura,Nagahisa, Y1 - 2008/01/16/ PY - 2007/09/21/received PY - 2007/10/18/revised PY - 2007/10/19/accepted PY - 2008/1/19/pubmed PY - 2008/4/2/medline PY - 2008/1/19/entrez SP - 582 EP - 585 JF - American journal of ophthalmology JO - Am. J. Ophthalmol. VL - 145 IS - 3 N2 - 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 3.0x10(-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%). 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. SN - 0002-9394 UR - https://www.unboundmedicine.com/medline/citation/18201684/Lysyl_oxidase_like_1_polymorphisms_and_exfoliation_syndrome_in_the_Japanese_population_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0002-9394(07)00930-0 DB - PRIME DP - Unbound Medicine ER -