在沙特队列中,人类染色体1q43多态性rs547984与原发性开角型青光眼无关。

Taif A Azad, Nikhil B Edward, Altaf A Kondkar, Hatem Kalantan, Saleh Altuwaijri, Tahira Sultan, Faisal A Al-Mobarak, Saleh A Al-Obeidan, Khaled K Abu-Amero
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引用次数: 3

摘要

背景:探讨人类1q43染色体透明带糖蛋白4 (ZP4)基因附近rs547984多态性与原发性开角型青光眼(POAG)的相关性。方法:采用Taq-Man®法对185例POAG患者进行多态性rs547984基因分型,其中90例为非相关性POAG病例,95例为沙特血统对照。结果:在加性模型(p = 0.356)、显性模型(p = 0.517)和隐性模型(p = 0.309)下,病例与对照组的基因型分布无显著性差异。此外,等位基因频率分布也不显著(p = 0.70)。小A等位基因频率在POAG病例和对照组中分别为0.49和0.50。此外,用于评估青光眼严重程度的特定临床指标,如眼压(IOP)、杯盘比、抗青光眼药物用量等,在POAG病例中也没有明显的基因型分布。结论:多态性rs547984与POAG的重要临床指标(如IOP和杯盘比)无关,也不是沙特队列中POAG的危险因素。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Polymorphism rs547984 on human chromosome 1q43 is not associated with primary open angle glaucoma in a Saudi cohort.

Background: To investigate the association between polymorphism rs547984, located in close proximity to the Zona Pellucida Glycoprotein 4 (ZP4) gene on human chromosome 1q43 and primary open angle glaucoma (POAG).

Method: Polymorphism rs547984 was genotyped using Taq-Man® assay in 185 subjects comprising of 90 unrelated POAG cases and 95 controls of Saudi origin.

Results: Association analysis between cases and controls revealed no significant genotype distribution under additive (p = 0.356), dominant (p = 0.517) and recessive (p = 0.309) models. Besides, the allele frequency distribution was also found to be non-significant (p = 0.70). The minor "A" allele frequency was found to be 0.49 and 0.50 among POAG cases and controls, respectively. In addition, specific clinical indices used to assess severity of glaucoma such as intraocular pressure (IOP), cup/disc ratio and number of anti-glaucoma medication also did not show any significant genotype distribution in POAG cases.

Conclusion: Polymorphism rs547984 is neither associated with any clinical indices important for POAG such as IOP and cup/disc ratio nor is a risk factor for POAG in the Saudi cohort.

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