Department of Biomedical Laboratory Science, College of Life and Health Sciences, Hoseo University, 20 Hoseo-Ro 79 Beon-Gil, Asan-Si, Chungcheongnam-Do, 31499, Republic of Korea.
Genes Genomics. 2023 Dec;45(12):1509-1515. doi: 10.1007/s13258-023-01430-5. Epub 2023 Jul 21.
Unimpaired kidney function is important for maintaining a healthy state of homeostasis in the body. A genome-wide association study (GWAS) conducted on kidney function-associated traits and novel loci of Japanese subjects found that insulin-like-growth factor 1 receptor (IGF1R) gene variants associated with replication were responsible for all three kinds of kidney functions and satisfied the Bonferroni significance level.
This study aimed to investigate whether a comparable relationship exists in the Korean population.
This study replicated three SNPs (rs28657002, rs10794486, and rs4966025) and conducted a linear regression analysis between 46 SNPs in the IGF1R gene and three kidney function-related traits, namely blood urea nitrogen (BUN), creatinine, and estimated glomerular filtration rate (eGFR) in Koreans.
The IGF1R gene was found to be replicated with a significant correlation in Koreans and was extended to the entire gene region to confirm its association with kidney-related functions. Three SNPs in IGF1R were replicated (rs28657002, BUN, P = 3.39 × 10; rs10794486, creatinine, P = 5.79 × 10; rs4966025, eGFR, P = 1.57 × 10) and five SNPs (rs28657002, rs10794486, rs4966025, rs12439557, and rs11247372) showed common significance among the three traits. Additionally, two significant SNPs (rs11857366 and rs28657002) showed the potential to affect IGF1R expression.
The results suggest that genetic polymorphisms in the IGF1R replicated previous studies and could affect kidney function. The results of this study will further enhance our understanding of how genetic differences in individuals affect kidney function-related traits.
肾脏功能正常对于维持人体的内环境稳定至关重要。一项针对日本人群与肾功能相关的表型和新的基因座的全基因组关联研究发现，胰岛素样生长因子 1 受体（IGF1R）基因变异与复制相关，可影响三种类型的肾功能，且满足 Bonferroni 显著性水平。
本研究旨在探讨韩国人群中是否存在类似的关系。
本研究复制了三个单核苷酸多态性（SNP）（rs28657002、rs10794486 和 rs4966025），并对 IGF1R 基因中的 46 个 SNP 与三种肾功能相关的指标（血尿素氮（BUN）、肌酐和估算肾小球滤过率（eGFR））进行线性回归分析。
在韩国人群中，IGF1R 基因被发现具有显著的相关性，并且将其扩展到整个基因区域以确认其与肾脏相关功能的关联。在 IGF1R 中发现三个 SNP 可复制（rs28657002、BUN，P=3.39×10；rs10794486、肌酐，P=5.79×10；rs4966025、eGFR，P=1.57×10），并且五个 SNP（rs28657002、rs10794486、rs4966025、rs12439557 和 rs11247372）在三种表型中具有共同的显著性。此外，两个显著 SNP（rs11857366 和 rs28657002）显示出影响 IGF1R 表达的潜力。
这些结果表明，IGF1R 中的遗传多态性复制了之前的研究结果，并可能影响肾功能。本研究的结果将进一步增强我们对个体遗传差异如何影响与肾功能相关的表型的理解。
