Department of Eye and Vision Science, Institute of Ageing and Chronic Disease, University of Liverpool; Department of Ophthalmology, St. Paul's Eye Unit, Royal Liverpool University Hospital, Liverpool, United Kingdom.
Department of Ophthalmology, Shashwat Hospital, Kothrud, Pune, Maharashtra, India.
Indian J Ophthalmol. 2022 Jun;70(6):2024-2028. doi: 10.4103/ijo.IJO_2664_21.
The purpose of this study was to genotype two previously identified SNPs (rs1048661:R141L, and rs3825942:G153D) in the lysyl oxidase-like 1 (LOXL1) gene and determine their association with pseudoexfoliation glaucoma (XFG) in patients from Pune, India.
All subjects underwent detailed phenotyping, and DNA extraction was performed on blood samples by using standardized techniques. Exon 1 of the LOXL1 gene containing the SNPs (rs3825942:G153D; rs1048661:R141L) were Sanger sequenced, and the results were analyzed using sequence analysis software SeqScape 2.1.1.
Data were analyzed from 71 patients with XFG and 81 disease-negative, age-matched controls. There was a strong association between the G allele of rs3825942 and XFG with an odds ratio of 10.2 (CI: 3.92-26.6; P < 0.001). The G allele of rs1048661 also showed an increase in risk relative to the T allele (OR = 1.49; CI: 0.88-2.51; P = 0.13), but this was not significant. Haplotype combination frequencies were estimated for rs1048661 and rs3825942; the GG haplotype was associated with a significant increase in risk (OR = 3.91; CI: 2.27-6.73; P < 0.001). Both the GA and TG haplotypes were associated with decreased XFG risk, although the latter was not significant (GA: OR = 0.08; CI: 0.03-0.21; P < 0.001; TG: OR = 0.67; CI: 0.40-1.13; P = 0.13).
The risk G allele in rs3852942 (G153D) is strongly associated with the development of XFG in the Western Indian population. Genetic screening strategies to identify LOXL1 risk alleles in the population can assist in case definition and early diagnosis, targeting precious resources to high-risk patients.
本研究旨在对赖氨酸氧化酶样 1（LOXL1）基因中两个先前确定的 SNP（rs1048661：R141L 和 rs3825942：G153D）进行基因分型，并确定它们与来自印度浦那的假性剥脱性青光眼（XFG）患者之间的关联。
所有受试者均进行了详细的表型分析，并通过标准化技术从血液样本中提取 DNA。包含 SNP（rs3825942：G153D；rs1048661：R141L）的 LOXL1 基因外显子 1 进行 Sanger 测序，并使用序列分析软件 SeqScape 2.1.1 分析结果。
对 71 名 XFG 患者和 81 名疾病阴性、年龄匹配的对照者的数据进行了分析。rs3825942 的 G 等位基因与 XFG 之间存在强烈关联，优势比为 10.2（95%CI：3.92-26.6；P<0.001）。与 T 等位基因相比，rs1048661 的 G 等位基因也显示出风险增加（OR=1.49；95%CI：0.88-2.51；P=0.13），但差异无统计学意义。对 rs1048661 和 rs3825942 的单倍型组合频率进行了估计；GG 单倍型与显著增加的风险相关（OR=3.91；95%CI：2.27-6.73；P<0.001）。GA 和 TG 单倍型均与 XFG 风险降低相关，尽管后者无统计学意义（GA：OR=0.08；95%CI：0.03-0.21；P<0.001；TG：OR=0.67；95%CI：0.40-1.13；P=0.13）。
在西方印度人群中，rs3852942（G153D）中的风险 G 等位基因与 XFG 的发生强烈相关。在人群中进行 LOXL1 风险等位基因的遗传筛选策略可以帮助确定病例并进行早期诊断，将宝贵资源集中用于高危患者。
