Ramprasad Vedam Lakshmi, George Ronnie, Soumittra Nagasamy, Sharmila Ferdinamarie, Vijaya Lingam, Kumaramanickavel Govindasamy
Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai, India.
Mol Vis. 2008 Feb 9;14:318-22.
In the Icelandic and Swedish populations, pseudoexfoliation syndrome (XFS) and pseudoexfoliation glaucoma (XFG) has been significantly associated with LOXL1 exon 1 polymorphisms - allele G of rs1048661 (R141L) and allele G of rs3825942 (G135D). In this study, we looked at the association of rs1048661 and rs3825942 in a southern Indian population.
Fifty-two cases with XFS (including XFG) and 97 matched controls that had thorough glaucoma evaluations were included in the study. Exon 1 of the LOXL1 gene with the single nucleotide polymorphisms (SNPs) were amplified and sequenced. For statistical significance, Pearson's Chi(2) test was performed. The HAPLOVIEW program v4.0 was used to determine the Hardy-Weinberg equilibrium and haplotype association.
In our study population, there was a significant association of allele G of rs3825942 with XFS (p=0.0001) and genotype GG (p=0.000305) with XFS.
Out of the two non-synonymous SNPs in exon 1 of the LOXL1 gene, rs3825942 has a significant association with XFS cases in the patients of the southern Indian population. To the best of our knowledge, this is the first Asian study replicating the European studies.
在冰岛和瑞典人群中，假性剥脱综合征（XFS）和假性剥脱性青光眼（XFG）与赖氨酰氧化酶样蛋白1（LOXL1）第1外显子多态性——rs1048661（R141L）的G等位基因和rs3825942（G135D）的G等位基因显著相关。在本研究中，我们观察了印度南部人群中rs1048661和rs3825942的相关性。
本研究纳入了52例XFS（包括XFG）患者和97例经过全面青光眼评估的匹配对照。对含有单核苷酸多态性（SNP）的LOXL1基因第1外显子进行扩增和测序。为了确定统计学意义，进行了Pearson卡方检验。使用HAPLOVIEW v4.0程序确定哈迪-温伯格平衡和单倍型关联。
在我们的研究人群中，rs3825942的G等位基因与XFS显著相关（p = 0.0001），基因型GG与XFS显著相关（p = 0.000305）。
在LOXL1基因第1外显子的两个非同义SNP中，rs3825942与印度南部人群中的XFS病例显著相关。据我们所知，这是第一项重复欧洲研究的亚洲研究。
