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.
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.
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.
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.
The cytochrome P450(P450) are a large group of constitutive and inducible heme-containing enzymes, which have a central role in the oxidative metabolism of a diverse range of xenobiotics. The majority of chemical carcinogens require metabolic activation before they interact with cellular macromolecules and can cause cancer initiation. The xenobiotic-metabolizing machinery contains two main types of enzymes : the phase I P450 mediating oxidative metabolism, and phase II containing enzymes. Activity of some enzymes implicated in the metabolism of carcinogens presents a great variability between individuals due to the existence of a polymorphism in gene coding for P450. Individual P450s, especially CYP1B1, are overexpressed in different types of tumors. The increased expressons of P450s in tumors is highly significant and is important for understanding rumor development and progression. The tumor-specific expression of P450s provides the basis for the development of movel diagnostic and therapeutic strategies.
To investigate whether polymorphism of gene encoding estrogen receptor-α is associated with the risk of endometriosis in Korean women.
We investigated 136 patients with histopathologically confirmed endometriosis rAFS stage III/IV and 251 control group women who were surgically proven to have no endometriosis. Polymerase chain reaction(PCR) and restriction fragment length polymorphism (RFLP) of PCR products were done to determine each participant's estrogen receptor-α genotype.
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The results suggest that estrogen receptor-α genetic polymorphism may not be associated with the development of endometriosis in Korean women.