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Paraoxonase Gene Polymorphism in South-western Korean Population
신병수 대한의학회 2009 Journal of Korean medical science Vol.24 No.4
Paraoxonase (PON) has anti-atherogenic activity. Considering the important role of polymorphism in the genetic susceptibility to cardiovascular disease and the variability of its allele frequencies in different ethnic groups, the distribution of genotypes and allele frequencies of PON1M55L, PON1Q192R, PON2A148G, and PON2S311C polymorphisms was analyzed in a total 988 South-western Koreans and determined their effects on lipid parameters. The genotype distribution of PON1 at position 55 was LL=0.886, LM=0.114; and at position 192 was QQ=0.406, QR=0.594. The frequencies of the PON1 55L allele and the PON1 192R allele were similar to those seen in Chinese populations and Western populations, respectively. The genetic distribution of PON2 at position 148 was AA=0.619, AG=0.345, GG=0.035; and at position 311 was CC=0.035, SC=0.345, SS=0.619. The frequencies of the PON2 148G and 311S alleles were similar to those seen in Chinese populations. The concentrations of LDL and ApoB were significantly different between the PON2A148G (P<0.05) and PON2 S311C polymorphisms (P<0.01). PON polymorphisms and allele frequencies were described in Koreans living south-western part of Korea. These ethnic variations are considered important in the interpretation of diseases associated with PON polymorphisms.
신병수,오선영,서만욱,김영현 대한임상신경생리학회 2002 Annals of Clinical Neurophysiology Vol.4 No.1
Two separate cranial nerve variants of Guillain-Barre syndrome(GBS) have been reported. One is Miller-Fisher syndrome, the other is polyneuritis cranialis. Involvement of the extraocular muscles in variants of GBS is well recognized, but complete external and internal opthalmoplegia is rare. Optic neuritis remains the only consistent, albeit very uncommon, evidence of inflammation of central nervous system myelin in GBS. This propose that GBS is part of a spectrum of central and peripheral inflammation. This case is an unusual clinical variant who had ptosis, opthalmoplegia, areflexia, ataxia, optic neurritis, marked oropharyngeal, and neck and shoulder weakness. This combined regional from is able to misdiagnose initially as botulism or diphtheria and less so, myasthenia. So if we were consider variant from of GBS, it is possible for make a correct diagnosis more easily and treatment without delay.
신병수 대한신경과학회 2009 대한신경과학회지 Vol.27 No.4
Background: There is an inverse relationship between lesion extent and plasma levels of antioxidants for white-matter lesions (leukoaraiosis) that are visible on MRI. Paraoxonase (PON) has both antioxidative and antiatherosclerotic potential, and could thus protect against both macrovascular and microvascular disease. The PON1 gene has two common polymorphisms in the coding region at positions 192 (Q192R) and 55 (M55L); the PON2 gene also has two common polymorphisms in the coding region at positions 148 (G148A) and 311 (C311S). We evaluated the associations between PON polymorphisms and leukoaraiosis, and investigated the role of PON polymorphisms in the lipid profile in leukoaraiosis. Methods: A total of 745 subjects was genotyped for the PON1 M55L, PON1 Q192R, PON2 G148A, and PON2 C311S polymorphisms using melting-point analysis with LightCycler real-time PCR technology. Leukoaraiosis was graded into absent, punctuate, early confluent, and confluent abnormalities using 1.5-T superconducting magnets with T2-weighted and fluid-attenuated inversion-recovery sequences. Results: The severity of leukoaraiosis was correlated with hypertension, advanced age, homocysteine, and serum C-reactive protein (p<0.05). The genotype and allele distribution of the PON polymorphisms did not differ significantly between the leukoaraiosis and control subjects. We found that PON1 55 LL genotype was correlated with high serum concentrations of lipoprotein A (p<0.05). The PON2 148 GG and PON2 311 SS genotypes were correlated with high serum concentrations of cholesterol, apolipoprotein B, and low-density lipoprotein (p<0.05). Conclusions: No association was found between PON gene polymorphisms and leukoaraiosis. Leukoaraiosis can be influenced by the PON1 55 LL, PON2 148 GG, and PON2 311 SS genotypes, which affect the serum concentration of lipoprotein. Background: There is an inverse relationship between lesion extent and plasma levels of antioxidants for white-matter lesions (leukoaraiosis) that are visible on MRI. Paraoxonase (PON) has both antioxidative and antiatherosclerotic potential, and could thus protect against both macrovascular and microvascular disease. The PON1 gene has two common polymorphisms in the coding region at positions 192 (Q192R) and 55 (M55L); the PON2 gene also has two common polymorphisms in the coding region at positions 148 (G148A) and 311 (C311S). We evaluated the associations between PON polymorphisms and leukoaraiosis, and investigated the role of PON polymorphisms in the lipid profile in leukoaraiosis. Methods: A total of 745 subjects was genotyped for the PON1 M55L, PON1 Q192R, PON2 G148A, and PON2 C311S polymorphisms using melting-point analysis with LightCycler real-time PCR technology. Leukoaraiosis was graded into absent, punctuate, early confluent, and confluent abnormalities using 1.5-T superconducting magnets with T2-weighted and fluid-attenuated inversion-recovery sequences. Results: The severity of leukoaraiosis was correlated with hypertension, advanced age, homocysteine, and serum C-reactive protein (p<0.05). The genotype and allele distribution of the PON polymorphisms did not differ significantly between the leukoaraiosis and control subjects. We found that PON1 55 LL genotype was correlated with high serum concentrations of lipoprotein A (p<0.05). The PON2 148 GG and PON2 311 SS genotypes were correlated with high serum concentrations of cholesterol, apolipoprotein B, and low-density lipoprotein (p<0.05). Conclusions: No association was found between PON gene polymorphisms and leukoaraiosis. Leukoaraiosis can be influenced by the PON1 55 LL, PON2 148 GG, and PON2 311 SS genotypes, which affect the serum concentration of lipoprotein.