Objective The aim of this study was to investigate the prevalence of KCNJ5 mutations in unselected patients with APA and *** their clinical *** KCNJ5 promoter region,exon-intron boundaries,exons and 5'-and 3'-...
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Objective The aim of this study was to investigate the prevalence of KCNJ5 mutations in unselected patients with APA and *** their clinical *** KCNJ5 promoter region,exon-intron boundaries,exons and 5'-and 3'-UTRs of PA patients were *** sequencing was performed on somatic(APA,n=75;UAH,n=18)DNA of patients with primary *** Several SNP sites and three somatic KCNJ5 mutations(G151R or L168R or S209T)were identified in this *** ratios of mutations were in 41.3%(31 Of 75)of APA and 50%(9 Of 18)of UAH(P=0.006).The ratios of G151R in APA and UAH were 14.7%(11 Of 75)and 11.1%(2 Of 18),and the ratios of L168R in APA and UAH were 16%(12 of 75)and 5.6%(1 of 18).The meaningful results were a novel missense mutations *** ratios of S209T in APA and UAH were 16%(12 of 75)and 50%(9 of 18),with the ratio in UAH being higher than that in APA(P<0.01).The KCNJ5 mutations were associated with higher aldosterone levels after the salt loading test(28.63±33.02ng/dL vs 13.33±12.83 ng/dL,P=0.045)but not with aldosterone levels before the salt loading *** KCNJ5 mutations were specific for APA,beca use they were not identified in 41 peripheral *** We found that: 1)two known somatic mutations G151R and L168R also existed in *** the SNP sites in UAH were identical with those in APA;2)the novel somatic mutation S209T were identified in both APA and UAH,and KCNJ5 gene was associated with UAH;3)KCNJ5 mutation carriers are more likely to be higher aldosterone levels after the Salt loading test.
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