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Singapore Eye Research Institute, Singapore.
Singapore National Eye Center, Singapore.
Nat Genet. 2017 Jul;49(7):993-1004. doi: 10.1038/ng.3875. Epub 2017 May 29.
Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A, have previously been associated with XFS. To further elucidate the genetic basis of XFS, we collected a global sample of XFS cases to refine the association at LOXL1, which previously showed inconsistent results across populations, and to identify new variants associated with XFS. We identified a rare protective allele at LOXL1 (p.Phe407, odds ratio (OR) = 25, P = 2.9 × 10) through deep resequencing of XFS cases and controls from nine countries. A genome-wide association study (GWAS) of XFS cases and controls from 24 countries followed by replication in 18 countries identified seven genome-wide significant loci (P < 5 × 10). We identified association signals at 13q12 (POMP), 11q23.3 (TMEM136), 6p21 (AGPAT1), 3p24 (RBMS3) and 5q23 (near SEMA6A). These findings provide biological insights into the pathology of XFS and highlight a potential role for naturally occurring rare LOXL1 variants in disease biology.
剥脱综合征（XFS）是继发性青光眼最常见的已知危险因素，也是全球失明的主要原因。此前，两个基因LOXL1和CACNA1A中的变异与XFS有关。为了进一步阐明XFS的遗传基础，我们收集了全球范围内的XFS病例样本，以细化此前在不同人群中结果不一致的LOXL1基因座的关联性，并确定与XFS相关的新变异。通过对来自9个国家的XFS病例和对照进行深度重测序，我们在LOXL1基因中发现了一个罕见的保护性等位基因（p.Phe407，优势比（OR）= 25，P = 2.9×10）。一项对来自24个国家的XFS病例和对照进行的全基因组关联研究（GWAS），随后在18个国家进行重复验证，确定了7个全基因组显著位点（P < 5×10）。我们在13q12（POMP）、11q23.3（TMEM136）、6p21（AGPAT1）、3p24（RBMS3）和5q23（SEMA6A附近）发现了关联信号。这些发现为XFS的病理学提供了生物学见解，并突出了自然发生的罕见LOXL1变异在疾病生物学中的潜在作用。
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