Abstract：
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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).
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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).
UNASSIGNED: 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.
摘要：
■糖尿病性视网膜病变(DR)是由于对视网膜的高血糖损伤而发生的,并且如果不及时治疗则导致失明。KATP和相关基因(KCNJ11和ABCC8)在葡萄糖刺激的胰岛β细胞分泌胰岛素和调节胰岛素分泌中起重要作用。KCNJ11E23K(rs5219),ABCC8-3C/T(rs1799854),Thr759Thr(rs1801261)和Arg1273Arg(rs1799859)是可能相关的单核苷酸多态性(SNP)。这项研究的目的是找出DR和这些SNP在土耳其人群中如何相互关联。
■本研究纳入了176例无视网膜病变的2型糖尿病患者(T2DM-rp),177名DR患者，204个控件。从全血中提取基因组DNA,并通过PCR-RFLP方法确定基因型。
■在本研究中，在ABCC8基因中的Arg1273Arg多态性方面，所有组间均未发现显着差异。该基因中-3C/T多态性中的T等位基因和TT基因型可能对DR(TT基因型p=0.036；T等位基因p=0.034)和PDR(TT基因型p=0.042和0.025)的发生有保护作用。在KCNJ11E23K多态性中，与T2DM-rp相比，AA基因型在DR组中显示出显着增加（p=0.046）。
■因此，ABCC8基因-3C/T多态性中的T等位基因和TT基因型可能对DR和PDR的发展具有保护性标记，而KCNJ11基因的E23K多态性中的AA基因型可能对土耳其人群DR的发展有效。
■本研究纳入了176例无视网膜病变的2型糖尿病患者(T2DM-rp),177名DR患者，204个控件。从全血中提取基因组DNA,并通过PCR-RFLP方法确定基因型。
■在本研究中，在ABCC8基因中的Arg1273Arg多态性方面，所有组间均未发现显着差异。该基因中-3C/T多态性中的T等位基因和TT基因型可能对DR(TT基因型p=0.036；T等位基因p=0.034)和PDR(TT基因型p=0.042和0.025)的发生有保护作用。在KCNJ11E23K多态性中，与T2DM-rp相比，AA基因型在DR组中显示出显着增加（p=0.046）。
■因此，ABCC8基因-3C/T多态性中的T等位基因和TT基因型可能对DR和PDR的发展具有保护性标记，而KCNJ11基因的E23K多态性中的AA基因型可能对土耳其人群DR的发展有效。
