Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus.

doi:10.1093/hmg/ddv347

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Article

Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus.

Human molecular genetics - 15 Nov 2015

Hauser Michael A, Aboobakar Inas F, Liu Yutao, Miura Shiroh, Whigham Benjamin T, Challa Pratap, Wheeler Joshua, Williams Andrew, Santiago-Turla Cecelia, Qin Xuejun, Rautenbach Robyn M, Ziskind Ari, Ramsay Michèle, Uebe Steffen, Song Lingyun, Safi Alexias, Vithana Eranga N, Mizoguchi Takanori, Nakano Satoko, Kubota Toshiaki, Hayashi Ken, Manabe Shin-ichi, Kazama Shigeyasu, Mori Yosai, Miyata Kazunori, Yoshimura Nagahisa, Reis Andre, Crawford Gregory E, Pasutto Francesca, Carmichael Trevor R, Williams Susan E I, Ozaki Mineo, Aung Tin, Khor Chiea-Chuen, Stamer W Daniel, Ashley-Koch Allison E, Allingham R Rand

Abstract excerpt

Exfoliation syndrome (XFS) is a common, age-related, systemic fibrillinopathy. It greatly increases risk of exfoliation glaucoma (XFG), a major worldwide cause of irreversible blindness. Coding variants in the lysyl oxidase-like 1 (LOXL1) gene are strongly associated with XFS in all studied populations, but a functional role for these variants has not been established. To identify additional candidate functional...

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Identifiers

PMID: 26307087
DOI: 10.1093/hmg/ddv347
PMCID: PMC4614704

Genes

LOXL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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