Plasma Proteomics Dataset from Individuals with Different Genotypes of Gitelman Syndrome

This study included 18 samples, divided into three groups for comparative analysis:Healthy Control (HC): Samples 1–6, collected from healthy individuals with no personal or family history of Gitelman syndrome (GS) and normal electrolyte metabolism indicators.Heterozygous Carrier Group (HET): Samples 7–12, carriers of a single pathogenic mutation in the SLC12A3 gene, presenting with mild or no clinical symptoms.Homozygous Mutant Group (HOM): Samples 13–18, individuals with a pathogenic mutation in both alleles of the SLC12A3 gene, meeting the clinical diagnostic criteria for classic GS.All samples are plasma samples derived from human peripheral blood, collected and processed through a standardized protocol for quantitative proteomic analysis. This aims to reveal systemic alterations in protein expression profiles corresponding to different GS genotypes.