Miladipour Amirhossein, Gholipour Mahdi, Honarmand Tamizkar Kasra, Abak Atefe, Kholghi Oskooei Vahid, Taheri Mohammad, Ghafouri-Fard Soudeh
Urology and Nephrology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Men's Health and Reproductive Health Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Front Genet. 2021 Sep 16;12:716151. doi: 10.3389/fgene.2021.716151. eCollection 2021.
End-stage renal disease (ESRD) is a public health problem with a high burden. The condition is associated with abnormalities in lipid metabolism. The fatty acid desaturase (FADS) gene cluster includes three genes that are significantly correlated with a number of pathologic conditions related to abnormal lipid levels. In the current study, we genotyped rs174556, rs99780, and rs7115739 single nucleotide polymorphisms within the cluster in a population of ESRD patients and healthy controls. The rs174556 of the gene and rs99780 of the gene were not associated with the risk of ESRD in any inheritance model. However, the rs7115739 of was associated with the risk of ESRD in all models except for the recessive model. The T allele of this SNP was significantly less prevalent among cases compared with controls [odds ratio (OR) (95% CI) = 0.44 (0.25-0.77), value = 0.004]. GT and TT genotypes has been shown to decrease the risk of ESRD in a codominant model [OR (95% CI) = 0.49 (0.26-0.92) and OR (95% CI) = 0.18 (0.02-1.6), respectively; value = 0.019]. In the dominant model, GT + TT status was associated with lower risk of ESRD [OR (95% CI) = 0.45 (0.24-0.82), value = 0.0078]. Assessment of association between this SNP and risk of ESRD in an overdominant model revealed that GT genotype decreases the risk of this condition [OR (95% CI) = 0.5 (0.27-0.94), value = 0.029]. Taken together, the rs7115739 of is suggested as a putative modulator of the risk of ESRD in the Iranian population.
终末期肾病（ESRD）是一个负担沉重的公共卫生问题。该病症与脂质代谢异常有关。脂肪酸去饱和酶（FADS）基因簇包含三个基因，这些基因与许多与脂质水平异常相关的病理状况显著相关。在当前研究中，我们对ESRD患者群体和健康对照群体中的该基因簇内的rs174556、rs99780和rs7115739单核苷酸多态性进行了基因分型。该基因的rs174556和该基因的rs99780在任何遗传模型中均与ESRD风险无关。然而，该基因的rs7115739在除隐性模型外的所有模型中均与ESRD风险相关。与对照组相比，该单核苷酸多态性的T等位基因在病例组中的流行率显著更低[比值比（OR）（95%置信区间）= 0.44（0.25 - 0.77），P值 = 0.004]。在共显性模型中，GT和TT基因型已被证明可降低ESRD风险[OR（95%置信区间）分别为0.49（0.26 - 0.92）和0.18（0.02 - 1.6）；P值 = 0.019]。在显性模型中，GT + TT状态与较低的ESRD风险相关[OR（95%置信区间）= 0.45（0.24 - 0.82），P值 = 0.0078]。在超显性模型中评估该单核苷酸多态性与ESRD风险之间的关联发现，GT基因型可降低该病症的风险[OR（95%置信区间）= 0.5（0.27 - 0.94），P值 = 0.029]。综上所述，该基因的rs7115739被认为是伊朗人群中ESRD风险的一个假定调节因子。
