Relationship between SLC12A3 haplotype mutation and essential hypertension in Mongolians
	    		
		   		
		   			
		   		
	    	
    	 
    	10.3969/j.issn.1008-0074.2014.05.04
   		
        
        	
        		- VernacularTitle:SLC12A3单体型变异和蒙古族原发性高血压的关联研究
 
        	
        	
        	
        		- Author:
	        		
		        		
		        		
			        		Peiye CHANG
			        		
			        		;
		        		
		        		
		        		
			        		Ping ZHAO
			        		
			        		;
		        		
		        		
		        		
			        		Zhiyue LIU
			        		
			        		
		        		
		        		
		        		
		        		
		        		
			        		
			        		
		        		
	        		
        		 
        	
        	
        	
        		- Publication Type:Journal Article
 
        	
        	
        		- Keywords:
        			
	        			
	        				
	        				
			        		
				        		Hypertension;
			        		
			        		
			        		
				        		Genes;
			        		
			        		
			        		
				        		Polymorphism,single nucleotide
			        		
			        		
	        			
        			
        		
 
        	
            
            
            	- From:
	            		
	            			Chinese Journal of cardiovascular Rehabilitation Medicine
	            		
	            		 2014;23(5):487-490
	            	
            	
 
            
            
            	- CountryChina
 
            
            
            	- Language:Chinese
 
            
            
            	- 
		        	Abstract:
			       	
			       		
				        
				        	Objective:To explore role of sodium/chloride transporter member 3 (SLC12A3 ) gene haplotype mutation on Mongolians with essential hypertension (EH) .Methods:A total of 170 EH Mongolians (EH group) and 220 normotensive Mongolians (normotensive group) specimens were collected from Xilin Gol league .Mononucleotide sites (tagSNP) were se-lected using Haploview software ,genotypes were divided using real-time polymerase chain reaction (PCR) and SHESIS on-line analysis software was used to establish haplotype .Results:(1) Body mass index (BMI) ,blood lipids (except high den-sity lipoprotein cholesterol ) and blood pressure of EH group were significantly higher than those of normotensive group , P<0.01;(2) A total of nine tagSNPs were screened from frequent polymorphic mononucleotides (SNPs) of SLC12A3 gene ,and there existed strong linkage disequilibrium (D′> 0.8) in three polymorphic sites (rs2289009 ,rs13306673 and rs7204044 ) .These three polymorphic sites constituted four frequent haplotypes with frequency >3% in total ,and frequen-cy of haplotype GCA in EH group was significantly lower than that of normotensive group (9.4% vs .16.6% ) ,OR=0.52 ,95% CI 0.33~0.84. Conclusion:There is relationship between GCA haplotype of SLC12A3 and hypertension in Mongolians ,individuals with GCA haplotype have a lower risk of hypertension .