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"Polymorphism"

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"Polymorphism"

Original Articles
[English]
Polymorphism of M341I in the Type A Human Natriuretic Peptide Receptor Gene in Essential Hypertension in Korea
Sung Eun Cho, Ki-Sook Hong, Young-Dae Kim
Ewha Med J 2012;35(2):95-101.   Published online September 30, 2012
DOI: https://doi.org/10.12771/emj.2012.35.2.95
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.

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[English]
Cytochrome P450 and Cancer
Young Sook Hong
Ihwa Ŭidae chi 2004;27(1):41-51.   Published online March 30, 2004
DOI: https://doi.org/10.12771/emj.2004.27.1.41

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.

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[English]
Association of the Estrogen Receptor-α Gene Polymorphism with the Risk of Endometriosis in Korean Women
Sa Ra Lee, Sung Eun Hur, Hye Sung Moon, Hyung-Lae Kim, Hye Won Chung
Ihwa Ŭidae chi 2003;26(2):91-96.   Published online June 30, 2003
DOI: https://doi.org/10.12771/emj.2003.26.2.91
Objective

To investigate whether polymorphism of gene encoding estrogen receptor-α is associated with the risk of endometriosis in Korean women.

Material and Methods

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.

Results

The distridution according to PvuII genetic polymorphism of estrogen receptor-α were as follows. PP, Pp and pp were 14.7%(20 women), 39.0%(53 women) and 46.3%(63 women) in the study group and 13.9%(35 women), 38.6%(98 women) and 47.4%(119 women) in the control group, respectively. There was no significant difference between the study group and the control group.

Conclusion

The results suggest that estrogen receptor-α genetic polymorphism may not be associated with the development of endometriosis in Korean women.

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