土耳其人群中 ABCC8 和 KCNJ11 基因多态性与糖尿病视网膜病变的关系分析。

IF 1.2 4区 医学 Q4 GENETICS & HEREDITY
Ophthalmic Genetics Pub Date : 2024-04-01 Epub Date: 2024-02-27 DOI:10.1080/13816810.2024.2317279
Ebru Alp, Sibel Doguizi, Fadime Mutlu Icduygu, Egemen Akgun, Mehmet Ali Sekeroglu, Murat Atabey Ozer
{"title":"土耳其人群中 ABCC8 和 KCNJ11 基因多态性与糖尿病视网膜病变的关系分析。","authors":"Ebru Alp, Sibel Doguizi, Fadime Mutlu Icduygu, Egemen Akgun, Mehmet Ali Sekeroglu, Murat Atabey Ozer","doi":"10.1080/13816810.2024.2317279","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Diabetic retinopathy (DR) occurs due to high blood glucose damage to the retina and leads to blindness if left untreated. KATP and related genes (KCNJ11 and ABCC8) play an important role in insulin secretion by glucose-stimulated pancreatic beta cells and the regulation of insulin secretion. KCNJ11 E23K (rs5219), ABCC8-3 C/T (rs1799854), Thr759Thr (rs1801261) and Arg1273Arg (rs1799859) are among the possible related single nucleotide polymorphisms (SNPs). The aim of this study is to find out how DR and these SNPs are associated with one another in the Turkish population.</p><p><strong>Materials and methods: </strong>This study included 176 patients with type 2 diabetes mellitus without retinopathy (T2DM-rp), 177 DR patients, and 204 controls. Genomic DNA was extracted from whole blood, and genotypes were determined by the PCR-RFLP method.</p><p><strong>Results: </strong>In the present study, a significant difference was not found between all the groups in terms of Arg1273Arg polymorphism located in the ABCC8 gene. The T allele and the TT genotype in the -3 C/T polymorphism in this gene may have a protective effect in the development of DR (<i>p</i> = 0.036 for the TT genotype; <i>p</i> = 0.034 for T allele) and PDR (<i>p</i> = 0.042 and 0.025 for the TT genotype). The AA genotype showed a significant increase in the DR group compared to T2DM-rp in the KCNJ11 E23K polymorphism (<i>p</i> = 0.046).</p><p><strong>Conclusions: </strong>Consequently, the T allele and TT genotype in the -3 C/T polymorphism of the ABCC8 gene may have a protective marker on the development of DR and PDR, while the AA genotype in the E23K polymorphism of the KCNJ11 gene may be effective in the development of DR in the Turkish population.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":null,"pages":null},"PeriodicalIF":1.2000,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population.\",\"authors\":\"Ebru Alp, Sibel Doguizi, Fadime Mutlu Icduygu, Egemen Akgun, Mehmet Ali Sekeroglu, Murat Atabey Ozer\",\"doi\":\"10.1080/13816810.2024.2317279\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Diabetic retinopathy (DR) occurs due to high blood glucose damage to the retina and leads to blindness if left untreated. KATP and related genes (KCNJ11 and ABCC8) play an important role in insulin secretion by glucose-stimulated pancreatic beta cells and the regulation of insulin secretion. KCNJ11 E23K (rs5219), ABCC8-3 C/T (rs1799854), Thr759Thr (rs1801261) and Arg1273Arg (rs1799859) are among the possible related single nucleotide polymorphisms (SNPs). The aim of this study is to find out how DR and these SNPs are associated with one another in the Turkish population.</p><p><strong>Materials and methods: </strong>This study included 176 patients with type 2 diabetes mellitus without retinopathy (T2DM-rp), 177 DR patients, and 204 controls. Genomic DNA was extracted from whole blood, and genotypes were determined by the PCR-RFLP method.</p><p><strong>Results: </strong>In the present study, a significant difference was not found between all the groups in terms of Arg1273Arg polymorphism located in the ABCC8 gene. The T allele and the TT genotype in the -3 C/T polymorphism in this gene may have a protective effect in the development of DR (<i>p</i> = 0.036 for the TT genotype; <i>p</i> = 0.034 for T allele) and PDR (<i>p</i> = 0.042 and 0.025 for the TT genotype). The AA genotype showed a significant increase in the DR group compared to T2DM-rp in the KCNJ11 E23K polymorphism (<i>p</i> = 0.046).</p><p><strong>Conclusions: </strong>Consequently, the T allele and TT genotype in the -3 C/T polymorphism of the ABCC8 gene may have a protective marker on the development of DR and PDR, while the AA genotype in the E23K polymorphism of the KCNJ11 gene may be effective in the development of DR in the Turkish population.</p>\",\"PeriodicalId\":19594,\"journal\":{\"name\":\"Ophthalmic Genetics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2024-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Ophthalmic Genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1080/13816810.2024.2317279\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/2/27 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Ophthalmic Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/13816810.2024.2317279","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/2/27 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0

摘要

背景:糖尿病视网膜病变(DR糖尿病视网膜病变(DR)是由于高血糖对视网膜造成的损害,如果不及时治疗会导致失明。KATP 及相关基因(KCNJ11 和 ABCC8)在葡萄糖刺激胰岛β细胞分泌胰岛素和调节胰岛素分泌中发挥重要作用。KCNJ11 E23K (rs5219)、ABCC8-3 C/T (rs1799854)、Thr759Thr (rs1801261) 和 Arg1273Arg (rs1799859) 是可能相关的单核苷酸多态性(SNPs)。本研究的目的是找出土耳其人群中 DR 与这些 SNPs 之间的关联:这项研究包括 176 名无视网膜病变的 2 型糖尿病患者(T2DM-rp)、177 名 DR 患者和 204 名对照组。从全血中提取基因组 DNA,并通过 PCR-RFLP 方法确定基因型:结果:在本研究中,各组之间在 ABCC8 基因 Arg1273Arg 多态性方面没有发现明显差异。该基因中 -3 C/T 多态性的 T 等位基因和 TT 基因型可能对 DR(TT 基因型的 p = 0.036;T 等位基因的 p = 0.034)和 PDR(TT 基因型的 p = 0.042 和 0.025)的发生有保护作用。与 T2DM-rp 相比,AA 基因型在 DR 组中的 KCNJ11 E23K 多态性显著增加(p = 0.046):因此,ABCC8 基因 -3 C/T 多态性中的 T 等位基因和 TT 基因型可能对 DR 和 PDR 的发展具有保护作用,而 KCNJ11 基因 E23K 多态性中的 AA 基因型则可能对土耳其人群中 DR 的发展有效。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population.

Background: Diabetic retinopathy (DR) occurs due to high blood glucose damage to the retina and leads to blindness if left untreated. KATP and related genes (KCNJ11 and ABCC8) play an important role in insulin secretion by glucose-stimulated pancreatic beta cells and the regulation of insulin secretion. KCNJ11 E23K (rs5219), ABCC8-3 C/T (rs1799854), Thr759Thr (rs1801261) and Arg1273Arg (rs1799859) are among the possible related single nucleotide polymorphisms (SNPs). The aim of this study is to find out how DR and these SNPs are associated with one another in the Turkish population.

Materials and methods: This study included 176 patients with type 2 diabetes mellitus without retinopathy (T2DM-rp), 177 DR patients, and 204 controls. Genomic DNA was extracted from whole blood, and genotypes were determined by the PCR-RFLP method.

Results: In the present study, a significant difference was not found between all the groups in terms of Arg1273Arg polymorphism located in the ABCC8 gene. The T allele and the TT genotype in the -3 C/T polymorphism in this gene may have a protective effect in the development of DR (p = 0.036 for the TT genotype; p = 0.034 for T allele) and PDR (p = 0.042 and 0.025 for the TT genotype). The AA genotype showed a significant increase in the DR group compared to T2DM-rp in the KCNJ11 E23K polymorphism (p = 0.046).

Conclusions: Consequently, the T allele and TT genotype in the -3 C/T polymorphism of the ABCC8 gene may have a protective marker on the development of DR and PDR, while the AA genotype in the E23K polymorphism of the KCNJ11 gene may be effective in the development of DR in the Turkish population.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Ophthalmic Genetics
Ophthalmic Genetics 医学-眼科学
CiteScore
2.40
自引率
8.30%
发文量
126
审稿时长
>12 weeks
期刊介绍: Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信