Endocrine Abstracts

Introduction: Primary hyperaldosteronism (PHA) is the most common hormonal cause of secondary hypertensionconnected with substantially higher cardiovascular morbidity and mortality than essential hypertension (EH). The association between aldosterone excess in PHA and mutations in KCNJ5 and CACNA1D genes has been previously described and the possible relation with gene polymorphisms was to consider. The present study is to assess possible association between polymorphisms of ion channel genes with PHA and cardiovascular risk factors.

Methods: 68 hypertensive patients (mean age: 47.57 ± 14, 68 y, 29 men, 39 women)with clinical suspicion of PHA were evaluated for PHA and EH according to the aldosterone concentration before and after the salt loading test. In the whole group cardiovascular risk factors including blood lipid profile and the KCNJ5 rs2604204 A>C and CACNA1D rs312481 C>T polymorphisms were determined. Statistical analysis was performed. Statistical significance was set at P-value < 0.05.

Results: PHA was confirmed in 30 patients. In PHA patients and in the the entire studied group the CACNA1D 312481C allele was associated with lower total and LDL cholesterol concentration compared to 312481TT (P = 0,0030 and P = 0.0067). In the EH group the KCNJ5 2604204C allele was associated with lower LDL cholesterol concentration compared to 2604204AA (P = 0.0311). No significant differences in the incidence of studied alleles between PHA and EH groups were observed, however a tendency towards more common occurrence of CACNA1D rs312481T allele in EH than in PHA patients has been noted (P = 0.0673).

Conslusion: We postulate (1) possible protective influence on lipid profile of the KCNJ5 2604204C and CACNA1D312481C polymorphism variants. The results suggest that (2) PHA and EH do not differ strong in terms of the incidence of investigated gene polymorphisms, however (3) the occurence of rs312481 T allel of CACNA1D gene appears to be more common in patients with EH. Observations need to be confirmed on larger studies.