Objective: In this study,the relationship between SLC12A3 gene polymorphisms and its coding protein NCC(Sodium chloride cotransporter)and Mongolian primary hypertension and serum ion levels was analyzed in Mongolian populations,and whether there was a hypertension subtype characterized by hypertension and serum ion abnormalities caused by SLC12A3 gene mutations in hypertension,which provided a basis for the accurate diagnosis and treatment of hypertension.Methods: The research objects were from the Mongolian population in the crosssectional study of Inner Mongolia Natural Science Foundation project in the early stage.According to the inclusion and exclusion criteria of case group and control group,310 cases in case group and 187 cases in control group were finally included.Data were input using Epidata3.0 software,single nucleotide polymorphism of SLC12A3 gene was detected by SNaPshot technology,hardy-Weinberg balance and the relationship between allele and hypertension were analyzed by Haploview software.SHEsis online analysis system and SPSS25.0 were used to analyze the relationship between genotype and hypertension and serum ion level.Western Blot was used to detect the expression of sodium chloride cotransporter.Results:(1)The blood potassium level of Mongolian hypertensive patients was lower than that of normal hypertensive patients.Logistic regression analysis showed that after adjusting for age and gender,the risk of hypertension in the low blood potassium group was 2.65 times higher than that in the normal blood potassium group(95%CI: 1.03 ~6.79).(2)SLC12A3 gene rs4784733,rs2304478,rs13306673,rs2289119,rs2304483 and rs5803 polymorphisms were not associated with Mongolian essential hypertension;(3)The serum potassium levels of rs4784733 and rs13306673 additive and dominant models of SLC12A3 gene were significantly different,and the serum potassium levels of rs4784733 and rs13306673 TT genotype carriers were higher than CC genotype carriers.rs2289119 additive model and recessive model showed statistically significant difference in serum potassium ion level.CC genotype carriers had higher serum potassium ion level than TT genotype carriers.(4)The expression of NCC in hypertensive patients(0.78(95% CI: 0.47 ~ 1.38))was higher than that in normotensive patients(0.47(95%CI: 0.23 ~ 0.69))(P = 0.02).Conclusion: At the gene level,SLC12A3 gene rs4784733,rs2304478,rs13306673rs2289119,rs2304483,rs5803 polymorphisms were not associated with Mongolian essential hypertension.rs4784733,rs13306673 and rs2289119 polymorphisms were correlated with the blood potassium level of Mongolian ethnic group.At protein level,SLC12A3 gene expression was higher in Mongolian hypertensive patients than in normal hypertensive patients. |