Thangavelu Lathalakshmi, Che Mat Nor Sarah Murniati, Abd Aziz Darwish, Sulong Sarina, Tin Aung, Ahmad Tajudin Liza Sharmini
Department of Ophthalmology & Visual Science, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kelantan, MYS.
Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kelantan, MYS.
Cureus. 2021 Oct 16;13(10):e18823. doi: 10.7759/cureus.18823. eCollection 2021 Oct.
Introduction , and have been identified as susceptible genetic markers related to glaucoma. We aimed to investigate the association between the identified susceptible genetic markers PLEKHA7 rs11024102, ABCC5 rs17217796, and KALRN rs1392912 in the progression of primary angle-closure glaucoma (PACG) in Malay patients. Methods For this study, 163 Malay patients with PACG were recruited from April 2015 to April 2017 at Hospital Universiti Sains Malaysia and Hospital Raja Perempuan Zainab II, Kota Bharu. Venesection was performed. DNA was extracted using a commercial DNA extraction kit. The primer was optimized for rs11024102, rs17217796, and rs1392912 of the , and genes, respectively. Polymerase chain reaction (PCR) was performed, and PCR products were purified. A DNA sequencer was used to identify polymorphisms. Progression was based on the agreement between the Advanced Glaucoma Intervention Study scoring system and the Hodapp-Parrish and Anderson staging system. The scoring was conducted on two reliable consecutive Humphrey visual fields (HVFs) during the recruitment period and two baseline HVFs obtained when the diagnosis was made. Based on the scoring, patients were grouped into progressed and non-progressed. A chi-square test was used to analyze the association between the genetic markers and the progression of PACG. Results One hundred and sixty-three Malay patients with PACG (58 men and 105 women) were recruited. Twenty-nine patients (18%) had visual field progression of PACG after a mean (SD) follow-up of 6.0 (1.0) years. The minor allele frequencies for PLEKHA7 rs11024102 (G/A), ABCC5 rs17217796 (C/G), and KALRN rs1392912 (A/G) were 0.44, 0.08, and 0.48, respectively. We found that rs11024102 (p=0.828), rs17217796 (p=0.865), and rs1392912 (p=0.684) were not associated with PACG progression in the Malay patients. Conclusion Although and were found to be genetic markers associated with the risk of PACG, they played no roles in PACG progression in the Malay population. Moreover, was not significantly associated with PACG progression. Other susceptible genetic markers may be responsible for PACG progression.
引言， 和 已被确定为与青光眼相关的易感基因标记。我们旨在研究在马来患者原发性闭角型青光眼（PACG）进展过程中，已确定的易感基因标记PLEKHA7 rs11024102、ABCC5 rs17217796和KALRN rs1392912之间的关联。方法 本研究于2015年4月至2017年4月在马来西亚理科大学医院和哥打巴鲁苏丹后妃再纳卜二世医院招募了163例患有PACG的马来患者。进行了静脉穿刺。使用商业DNA提取试剂盒提取DNA。分别针对 、 和 基因的rs11024102、rs17217796和rs1392912对引物进行了优化。进行了聚合酶链反应（PCR），并对PCR产物进行了纯化。使用DNA测序仪鉴定多态性。进展情况基于青光眼高级干预研究评分系统与Hodapp-Parrish和Anderson分期系统之间的一致性。评分在招募期间的两个可靠连续的Humphrey视野（HVF）以及确诊时获得的两个基线HVF上进行。根据评分，将患者分为进展组和非进展组。使用卡方检验分析基因标记与PACG进展之间的关联。结果 招募了163例患有PACG的马来患者（58例男性和105例女性）。在平均（标准差）6.0（1.0）年的随访后，29例患者（18%）出现了PACG的视野进展。PLEKHA7 rs11024102（G/A）、ABCC5 rs17217796（C/G）和KALRN rs1392912（A/G）的次要等位基因频率分别为0.44、0.08和0.48。我们发现rs11024102（p = 0.828）、rs17217796（p = 0.865）和rs1392912（p = 0.684）与马来患者的PACG进展无关。结论 尽管发现 和 是与PACG风险相关的基因标记，但它们在马来人群的PACG进展中不起作用。此外， 与PACG进展无显著关联。其他易感基因标记可能与PACG进展有关。
