肢端肥大症患者β停滞素2和丝胺A基因变异与药物治疗反应的关系

IF 2.5 Q3 ENDOCRINOLOGY & METABOLISM
Minerva endocrinology Pub Date : 2025-03-01 Epub Date: 2021-10-20 DOI:10.23736/S2724-6507.21.03611-3
Ayse S Akdemir, Derya Metin Armagan, Ozge Polat Korkmaz, Hande M Ozkaya, Pinar Kadioglu, Nurperi Gazioglu, Necmettin Tanriover, Ahmet Dirican, Melek Ozturk
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引用次数: 0

摘要

背景:肢端肥大症是一种因垂体腺瘤导致生长激素过多而引起的疾病。一些肢端肥大症患者对体格生长激素类似物(SSA)治疗表现出抗药性。人们认为,Filamin-A(FLNA)和β-arrestins在对SSA的反应中发挥作用。我们旨在研究土耳其人群中肢端肥大症患者的 FLNA-rs782079491 和 β-arrestin-2-rs34230287 单核苷酸多态性与疾病风险以及治疗反应之间的关系:通过实时 PCR 测定了 110 例肢端肥大症患者和 99 例对照组的基因型。方法:通过实时 PCR 测定了 110 名肢端肥大症患者和 99 名对照者的基因型,并将基因型分布与疾病的临床数据进行了比较:结果:β-arrestin-2 基因多态性与肢端肥大症患者对 SSA 治疗的反应无关。对于对 SSA 有反应的患者,与 CC 基因型相比,β-arrestin-2-rs34230287 CT+TT 基因型与较高的微腺瘤相关(p = 0.017)。研究组中未观察到FLNA多态性:我们的研究表明,在土耳其人群中,FLNA和β-arrestin-2基因的多态基因型与肢端肥大症和SSA反应之间没有关联。然而,β-arrestin-2 与某些临床特征之间存在关系。此外,CC 基因型和 C 等位基因是与肢端肥大症患者肿瘤生长率相关的风险因素。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Association between β-arrestin-2 and filamin-A gene variations with medical treatment response in acromegaly patients.

Background: Acromegaly is a disease that occurs as a result of excessive growth hormone caused by pituitary adenomas. Some acromegaly patients show resistance to somatostatin analog (SSA) treatment. Filamin-A (FLNA) and β-arrestins are thought to play a role in the response to SSAs. We aimed to investigate the relationship between FLNA-rs782079491 and β-arrestin-2-rs34230287 single-nucleotide polymorphisms and disease risk, as well as treatment response in patients with acromegaly in the Turkish population.

Methods: The genotypes of 110 acromegaly patients and 99 controls were determined by real-time PCR. The genotype distributions were compared with clinical data on the disease.

Results: There was no association between the β-arrestin-2 gene polymorphism and the response to SSA treatment in acromegaly patients. For responder patients to SSAs, the β-arrestin-2-rs34230287 CT+TT genotype was associated with higher microadenoma as compared with the CC genotype (P=0.017). The FLNA polymorphism was not observed in the study group.

Conclusions: We showed that there was no association between the polymorphic genotypes of FLNA and β-arrestin-2 genes with acromegaly disease and SSAs response in the Turkish population. However, there was a relationship between β-arrestin-2 and some of the clinical characteristics. Furthermore, the CC genotype and the C allele are risk factors associated with tumor growth rate in acromegaly patients.

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