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中国中部印第安患者 KCNA10 和 SLC13A3 基因单核苷酸多态性与不明原因慢性肾脏病易感性的相关性。

Association of Single Nucleotide Polymorphisms in KCNA10 and SLC13A3 Genes with the Susceptibility to Chronic Kidney Disease of Unknown Etiology in Central Indian Patients.

机构信息

Department of Biochemistry, All India Institute of Medical Sciences (AIIMS) Bhopal, Saket Nagar, Bhopal, 462020, India.

Department of Nephrology, All India Institute of Medical Sciences (AIIMS) Bhopal, Saket Nagar, Bhopal, 462020, India.

出版信息

Biochem Genet. 2023 Aug;61(4):1548-1566. doi: 10.1007/s10528-023-10335-7. Epub 2023 Jan 25.

Abstract

Global rise in the prevalence of endemic chronic kidney disease of unknown etiology (CKDu) possess major health issues. The prevalence of CKDu is also rising in the Indian population. Besides environmental factors, genetic factors play an important role in the predisposition to CKDu. In the present study, we have analyzed the association of single nucleotide polymorphisms (SNPs) in three genes with the susceptibility to CKDu. This was a case-control study with a total of 180 adult subjects (CKD = 60, CKDu = 60, Healthy = 60) from central India. We performed KASP genotyping assay to determine the allele frequency of SNP genotypes. We used the odds ratio (OR) to assess the association of individual SNPs, rs34970857 of KCNA10, rs6066043 of SLC13A3, and rs2910164 of miR-146a with CKDu and CKD susceptibility. In the case of rs34970857 of the KCNA10 gene, we noted a significantly increased OR for CKDu versus healthy control (Dominant model; CKDu versus control, CT + CC versus TT, OR = 3.96, p = 0.004). In the recessive and homozygous model, we observed significantly increased OR for rs6066043 of SLC13A3 gene, CKDu versus healthy control {(Recessive model; CKDu versus control, GG versus AA + GA, OR = 2.41, p = 0.03; homozygous model, GG versus AA, OR = 3.54, p = 0.04)}. CC genotype of rs34970857 of the KCNA10 gene and the GG genotype of the SLC13A3 gene are significantly associated with the susceptibility of CKDu.

摘要

全球范围内,病因不明的地方性慢性肾病(CKDu)的患病率不断上升,这给健康带来了严重的问题。印度人口的 CKDu 患病率也在上升。除了环境因素外,遗传因素在 CKDu 的易感性中也起着重要作用。在本研究中,我们分析了三个基因中单核苷酸多态性(SNPs)与 CKDu 易感性的关联。这是一项病例对照研究,共纳入了来自印度中部的 180 名成年受试者(CKD=60 例,CKDu=60 例,健康对照=60 例)。我们进行了 KASP 基因分型检测,以确定 SNP 基因型的等位基因频率。我们使用比值比(OR)来评估单个 SNP 的关联,包括 KCNA10 基因的 rs34970857、SLC13A3 基因的 rs6066043 和 miR-146a 的 rs2910164 与 CKDu 和 CKD 易感性的关系。在 KCNA10 基因的 rs34970857 中,我们发现与健康对照组相比,CKDu 患者的 OR 显著增加(显性模型;CKDu 与对照组相比,CT+CC 与 TT,OR=3.96,p=0.004)。在隐性和纯合子模型中,我们观察到 SLC13A3 基因的 rs6066043 与 CKDu 患者的 OR 显著增加,与健康对照组相比:{隐性模型;CKDu 与对照组相比,GG 与 AA+GA,OR=2.41,p=0.03;纯合子模型,GG 与 AA,OR=3.54,p=0.04)}。KCNA10 基因的 rs34970857 中的 CC 基因型和 SLC13A3 基因的 GG 基因型与 CKDu 的易感性显著相关。

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