印度原发性开角型青光眼患者ADRB2和OATP2A1基因多态性的评估。

IF 1.7 3区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY
Pharmacogenetics and genomics Pub Date : 2024-01-01 Epub Date: 2023-11-01 DOI:10.1097/FPC.0000000000000512
Lakshminarayanan Gowtham, Nabanita Halder, Sundararajan Baskar Singh, Dewang Angmo, Rama Jayasundar, Tanuj Dada, Thirumurthy Velpandian
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引用次数: 0

摘要

肾上腺素能β2受体阻滞剂的出现彻底改变了青光眼的治疗,而前列腺素类似物的发现进一步扩大了治疗选择。有机阴离子转运多肽2A1(OATP2A1/SLCO2A1)促进局部前列腺素的角膜转运进入眼前段。我们的研究旨在阐明ADRB2和OATP2A1基因多态性的患病率,以解决青光眼患者治疗反应的差异。研究队列包括原发性开角型青光眼患者(POAG = 77),与非青光眼对照组(n = 60)来鉴定多态性rs1042713(Arg16Gly,A > G) 和rs1042714(Gln27Glu,C > G) 在ADRB2基因和rs34550074(Ala396Thr > G) 在OATP2A1基因中,使用Sanger测序。在入选的受试者中(n = 137),POAG组眼压明显升高(P  0.05)与疾病无显著相关性。本研究揭示了ADRB2基因多态性与POAG的相关性,而OATP2A1多态性没有显示出显著的相关性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Evaluation of ADRB2 and OATP2A1 genetic polymorphisms in Indian patients with primary open-angle glaucoma.

The emergence of adrenergic β2-receptor (ADRB2) blockers has revolutionized glaucoma treatment, while the discovery of prostaglandin analogs has further expanded therapeutic options. Organic anion transporting polypeptide 2A1 (OATP2A1/SLCO2A1) facilitates the corneal transport of topical prostaglandins into anterior segment of eye. Our study aims to elucidate the prevalence of genetic polymorphisms in the ADRB2 and OATP2A1 to address variations in therapeutic responses among glaucoma patients. The study cohort comprised primary open-angle glaucoma patients (POAG, n = 77), compared to non-glaucomatous controls (n = 60) to identify polymorphisms rs1042713 (Arg16Gly, A > G) and rs1042714 (Gln27Glu, C > G) in the ADRB2 gene and rs34550074 (Ala396Thr, A > G) in OATP2A1 gene, using Sanger sequencing. Among the enrolled subjects (n = 137), the POAG group exhibited significantly elevated intraocular pressure ( P  < 0.001) and cup-to-disc ratio ( P  < 0.0001). The GA genotype of rs1042713 ( P  < 0.01) and the GG genotype of rs1042714 ( P  < 0.05) were positively associated with POAG, while rs34550074 ( P  > 0.05) showed no significant correlation with the disease. This study reveals the association of the ADRB2 gene polymorphisms with POAG, whereas OATP2A1 polymorphism did not show significant correlation.

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来源期刊
Pharmacogenetics and genomics
Pharmacogenetics and genomics 医学-生物工程与应用微生物
CiteScore
3.20
自引率
3.80%
发文量
47
审稿时长
3 months
期刊介绍: ​​​​Pharmacogenetics and Genomics is devoted to the rapid publication of research papers, brief review articles and short communications on genetic determinants in response to drugs and other chemicals in humans and animals. The Journal brings together papers from the entire spectrum of biomedical research and science, including biochemistry, bioinformatics, clinical pharmacology, clinical pharmacy, epidemiology, genetics, genomics, molecular biology, pharmacology, pharmaceutical sciences, and toxicology. Under a single cover, the Journal provides a forum for all aspects of the genetics and genomics of host response to exogenous chemicals: from the gene to the clinic.
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