Polymorphism of M341I in the Type A Human Natriuretic Peptide Receptor Gene in Essential Hypertension in Korea

Objectives: There are 3 subtypes of natriuretic peptide (NP) receptors: type A natriuretic peptide receptor (NPRA), NPRB, and NPRC. The NPRA gene polymorphism, consisting of substition of methionine (ATG) to isoleucine (ATC) at nucleotide 1023 (M341I) of exon 3 was revealed to be associated with increased risk for essential hypertension (EH) in Japanese people. The purpose of this study is to investigate association between EH and the M341I polymorphism in the NPRA gene in Korea. Methods: Eighty patients in whom type B natriuretic peptide (BNP) was measured were enrolled in this study. 66 patients had EH and 14 patients did not. The polymorphism of M341I was evaluated by multiplex genotyping polymerase chain reaction and by sequencing analysis. Results: The overall distribution of alleles was not significantly different between the control and EH groups. However, the C/C homozygous genotype was found only in the EH group. In the EH group, patient carrying the C/C homozygous genotype had the trend of having higher systolic and diastolic BP levels regardless of the previous treatment, even though other laboratory markers including BNP levels had no significant differences according to the genotypes. Conclusion: This would be meaningful for the first identification of the M341I polymorphism in the NPRA gene and for the first suggestion of association of the EH with it in Korea. (Ewha Med J 2012;35(2):95-101)