Lack of association between LOXL1 gene polymorphisms and primary open angle glaucoma in the Saudi Arabian population.
Lack of association between LOXL1 gene polymorphisms and primary open angle glaucoma in the Saudi Arabian population.
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DOI：
10.3109/13816810.2011.575430
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发表时间：
2012-09
影响因子：
1.2
通讯作者：
Al-Obeidan SA
中科院分区：
文献类型：
--
作者：
Abu-Amero KK;Osman EA;Azad MT;Allingham RR;Hauser MA;Al-Obeidan SA
目的 研究与假性剥脱性青光眼相关的 LOXL1 基因中的主要单核苷酸多态性 (SNP) 是否与沙特阿拉伯人群中的原发性开角型青光眼 (POAG) 相关。与假性剥脱性青光眼相关的 LOXL1 基因区域包含三个常见的 SNP（rs1048661、rs3825942 和 rs2165241），在沙特阿拉伯数据集中进行了测序，该数据集包含 96 个 POAG 病例和 101 个健康对照。 POAG 病例和对照中 SNP rs1048661 的 G 剥脱风险等位基因频率分别为 0.75 和 0.76 (p = 0.886)，且等位基因频率差异无统计学意义 (p = 0.866)。患者和对照之间的基因型没有统计学上的显着差异（基因型G/G和G/T分别p= 0.261和0.156）。至于SNP rs3825942，POAG患者中“G”等位基因的频率与对照组相当(p=0.477)，并且研究组中基因型G/G和A/G频率没有统计学显着差异。至于SNP rs2165241，POAG患者中的“T”等位基因频率（0.46）略高于对照组的频率（0.39），但这种差异没有统计学意义（p=0.176）。与迄今为止研究的所有其他人群类似，沙特阿拉伯 POAG 人群与假性剥脱性青光眼相关的 SNP 没有关联。
To investigate whether major single nucleotide polymorphisms (SNPs) in the LOXL1 gene associated with pseudoexfoliation glaucoma are associated with primary open angle glaucoma (POAG) in the Saudi Arabian population. The regions of the LOXL1 gene associated with pseudoexfoliation glaucoma, encompassing the three common SNPs, (rs1048661, rs3825942 and rs2165241), were sequenced in a Saudi Arabian dataset consisting of 96 POAG cases and 101 healthy controls. The allele frequency of the G exfoliation risk allele for SNP rs1048661 in POAG cases and controls was 0.75 and 0.76 (p = 0.886), respectively and the allele frequency difference was not statistically significant (p= 0.866). There was no statistically significant difference in the genotypes between patients and controls (p= 0.261 and 0.156 for genotypes G/G and G/T respectively). As for SNP rs3825942, the frequency of the “G” allele in the POAG patients were comparable to that in the controls (p= 0.477) and there was no statistically significant difference in genotype G/G and A/G frequency in the study groups. As for SNP rs2165241, the “T” allele frequency in the POAG patients (0.46) was slightly higher than the frequency in controls (0.39), but this difference was not statistically significant (p= 0.176). The Saudi Arabian POAG population, similar to all other populations studied to date, demonstrates no association with SNPs associated with pseudoexfoliation glaucoma.
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影响因子：
4.4
作者：
Ovodenko, Boris;Rostagno, Agueda;Ritch, Robert
通讯作者：
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作者：
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