Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA.
J Glaucoma. 2010 Sep;19(7):432-6. doi: 10.1097/IJG.0b013e3181c4b0fe.
To evaluate the elastin gene (ELN) as a secondary risk factor for pseudoexfoliation syndrome (PXFS) and the associated glaucoma pseudoexfoliation glaucoma (PXFG).
One hundred seventy-eight unrelated patients with PXFS, including 132 patients with PXFG, and 113 unrelated controls were recruited from the Massachusetts Eye and Ear Infirmary. All the patients and controls were white of European ancestry. Three tag SNPs (rs2071307, rs3823879, and rs3757587) that capture the majority of alleles in ELN were genotyped. Single-SNP association was analyzed using Fisher exact test. Haplotype analysis and the set-based test were used to assess the association for the whole gene. Interaction analysis was done between the ELN SNP rs2071307 and LOXL1 SNP rs2165241 using logistic regression. Multiple comparisons were corrected using the Bonferroni method.
All 3 ELN tag SNPs were not significantly associated with PXFS and PXFG (P>0.20). The minor allele frequencies in PXFS, PXFG, and controls were 40.7%, 39.8%, and 45.6%, respectively for rs2071307, 6.7%, 6.3%, and 5.4% for rs3823879, and 14.8%, 16.2%, and 13.6% for rs3757587. Haplotype analysis and the set-based test did not find significant association of ELN with PXFS (P=0.94 and 0.99, respectively). No significant interaction effects on PXFS were identified between the ELN and LOXL1 SNPs (P=0.55).
Our results suggest that common polymorphisms of ELN are not associated with PXFS and PXFG in white populations. Further studies are required to identify secondary genetic factors that contribute to PXFS.
评估弹力蛋白基因 (ELN) 作为假性剥脱综合征 (PXFS) 和相关青光眼假性剥脱性青光眼 (PXFG) 的二级风险因素。
从马萨诸塞州眼耳医院招募了 178 名无关的 PXFS 患者，包括 132 名 PXFG 患者和 113 名无关对照。所有患者和对照均为欧洲白种人。对 3 个捕获 ELN 大多数等位基因的标签 SNP(rs2071307、rs3823879 和 rs3757587)进行基因分型。使用 Fisher 精确检验分析单 SNP 关联。使用基于集的检验和单体型分析来评估整个基因的关联。使用逻辑回归分析 ELN SNP rs2071307 与 LOXL1 SNP rs2165241 之间的相互作用。使用 Bonferroni 方法校正多重比较。
所有 3 个 ELN 标签 SNP 与 PXFS 和 PXFG 均无显著相关性(P>0.20)。rs2071307 在 PXFS、PXFG 和对照组中的次要等位基因频率分别为 40.7%、39.8%和 45.6%，rs3823879 为 6.7%、6.3%和 5.4%，rs3757587 为 14.8%、16.2%和 13.6%。单体型分析和基于集的检验均未发现 ELN 与 PXFS 之间存在显著关联(P=0.94 和 0.99)。ELN 和 LOXL1 SNP 之间也未发现对 PXFS 有显著的交互作用效应(P=0.55)。
我们的研究结果表明，ELN 的常见多态性与白人中的 PXFS 和 PXFG 无关。需要进一步的研究来确定导致 PXFS 的二级遗传因素。
