• 대한의생명과학회지
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• 제21권3호
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• pp.144-151
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• 2015

Development of hypertension is caused by complex contributions of genetic and environmental factors. In spite of the increased understanding of hypertension, genetic factors that contribute to hypertension largely remain elusive. ANO1 gene encoding a calcium-activated chloride channel has recently been reported to affect spontaneous hypertension in the animal model. In this report, we investigated possible association of the ANO1 gene with hypertension in human with ANO1 variants found in Korean population. Fourteen polymorphisms of ANO1 gene were analyzed to be associated with hypertension. Interestingly, the six polymorphisms that showed statistically significant association were all the male subjects. The highest significant SNP was rs7127129 (OR=1.14, CI: 1.02~1.28, additive P=0.023; OR=1.24, CI: 1.03~1.49, dominant P=0.025), and other five SNPs (rs2509153, rs11235473, rs10751200, rs10898827 and rs10899928) were also statistically associated with hypertension. Consequently, we found that the genetic variants of ANO1 present statistically significant associations with hypertension in human, especially, in male. To the best of our knowledge, this study is the first report describing association of genetic polymorphisms of ANO1 with hypertension in human.

• Molecules and Cells
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• 제39권10호
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• pp.722-727
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• 2016

Cardiomyopathy is a major cause of death worldwide. Based on pathohistological abnormalities and clinical manifestation, cardiomyopathies are categorized into several groups: hypertrophic, dilated, restricted, arrhythmogenic right ventricular, and unclassified. Dilated cardiomyopathy, which is characterized by dilation of the left ventricle and systolic dysfunction, is the most severe and prevalent form of cardiomyopathy and usually requires heart transplantation. Its etiology remains unclear. Recent genetic studies of single gene mutations have provided significant insights into the complex processes of cardiac dysfunction. To date, over 40 genes have been demonstrated to contribute to dilated cardiomyopathy. With advances in genetic screening techniques, novel genes associated with this disease are continuously being identified. The respective gene products can be classified into several functional groups such as sarcomere proteins, structural proteins, ion channels, and nuclear envelope proteins. Nuclear envelope proteins are emerging as potential molecular targets in dilated cardiomyopathy. Because they are not directly associated with contractile force generation and transmission, the molecular pathways through which these proteins cause cardiac muscle disorder remain unclear. However, nuclear envelope proteins are involved in many essential cellular processes. Therefore, integrating apparently distinct cellular processes is of great interest in elucidating the etiology of dilated cardiomyopathy. In this mini review, we summarize the genetic factors associated with dilated cardiomyopathy and discuss their cellular functions.

• 한국환경성돌연변이발암원학회지
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• 제21권2호
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• pp.106-112
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• 2001

In view of the effect of factor Ⅶ as a risk factor for essential hypertension, we investigated the length (I/D) polymorphism at position 323 promoter region and exon 8-Msp I RFLP of the human factor Ⅶ gene in the Korean patients with essential hypertension and normal controls. There were no significant differences in the allele, genotype and haplotype frequencies of these polymorphisms between normotensive and essential hypertensive subjects. The significant linkage disequilibrium was however, detected between two polymorphic sites. The Msp I RFLP and I/D polymorphism were also significantly associated with plasma triglyceride (TG) levels. Therefore, our results suggest that the significant association between two genetic variations in the human factor Ⅶ gene and plasma TG level may reflect the potential role of human factor Ⅶ gene as one of the genetic components for cardiovascular risk.

• BMB Reports
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• 제36권5호
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• pp.462-467
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• 2003

The Random Amplified Polymorphic DNA-Polymerase Chain Reaction (RAPD-PCR) was applied to analyze the genetic variation of the Hilsa shad, Tenualosa ilisha Ham., from the two major inland rivers (Padma and Meghna) in Bangladesh. Twenty-eight random 10-mer primers were primarily scored in 8 individuals from each of the two locations. Fifteen primers, which gave polymorphism, were selected and used in the final analysis of 34 individuals from the two sites. Using these primers, 480 scorable DNA fragments were found, of which 98 (20.41%) were polymorphic. By comparing the RAPD banding patterns, variations were found between and within the populations. A dendrogram was constructed with the polymorphic fragments to analyze the genetic distances between the Hilsa shad populations. The results show two major clusters of Padma and Meghna, assuming different spawning populations with different stocks or races of Hilsa shad in the major Bangladesh rivers.

• Toxicological Research
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• 제3권1호
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• pp.55-63
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• 1987

A Peri-and Postnatal Study was Carried out to examine the effects of rHuIFN-${\alpha}A$, produced by gene-manipulated E. coli, on offsprings of Wistar rats. The substance was administered intraperitoneally to dams at dose levels of $1{\times}10^5$, $4{\times}10^5$ and $1.2{\times}10^6$ I.U/kg/day during the period from day 17 of gestation to day 21 after delivery. All the pregnant dams were allowed to deliver naturally, and the postnatal development of the offsprings was observed. No noticeable toxic effects and pathological changes on dams were observed, and no detectable variations in postnatal development of offsprings occured.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제11권sup2호
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• pp.59-66
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• 2008

Genome-wide association studies using large case-control samples and several hundred thousand genetic markers efficiently and powerfully assay common genetic variations. The application of these studies to inflammatory bowel disease has led to the identification of susceptibility genes and affirmed the importance of innate and adaptive immunity in the pathogenesis of disease. Efforts directed towards the identification of environmental factors have implicated commensal bacteria as determinants of dysregulated immunity and inflammatory bowel disease. Host genetic polymorphisms most likely interact with functional bacterial changes to stimulate aggressive immune responses that lead to chronic tissue injury.

• 한국동물위생학회지
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• 제33권4호
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• pp.353-359
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• 2010

Nucleotide sequences of mitochondrial DNA (mtDNA) of 19 leopard cats (Prionailurus bangalensis euptilura) obtained from Seoul grand park zoo in South Korea were determined for analysing genetic diversity. In the leopard cats, 3 haplotypes of the partial cytochrome b sequences (603 base-pairs, bp) were identified. Haplotypes obtained from those genes showed existences of at least 3 maternal lineages of leopard cats in Korea. Tamura-Nei nucleotide distance among 3 haplotypes were 0.00. Molecular phylogenetic tree showed the similar clustering of haplotypes for genes. Meanwhile, no individual variations within the leopard cats in S. Korea. Genetic surveillance system of leopard cats in S. Korea is warranted for maintaining biological conservation.

• 한국환경성돌연변이발암원학회지
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• 제22권4호
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• pp.223-228
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• 2002

Hypertension is characterized by multiple genetic and environmental factors. To establish the genetic basis of hypertension in Koreans, we investigated the genetic variations of two candidate genes (aldosterone synthase (CYP11B2), ${\gamma}$ subunit of the amiloride-sensitive epithelial sodium channel (ENaC) in the Korean patients with hypertension and normotensive controls. There were no significant differences in the genotype and allele frequencies between two groups, respectively. However, there was the significant difference between Korean and Caucasian populations in allele frequency of RFLPs in the two candidate genes. Therefore, these studies also need to be confirmed in other ethnic groups, although our results do not support a possible role of these genes on hypertension in Korean population

• Journal of Periodontal and Implant Science
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• 제43권3호
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• pp.111-120
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• 2013

Periodontitis is a common oral disease that is characterized by infection and inflammation of the tooth supporting tissues. While its incidence is highly associated with outgrowth of the pathogenic microbiome, some patients show signs of predisposition and quickly fall into recurrence after treatment. Recent research using genetic associations of candidates as well as genome-wide analysis highlights that variations in genes related to the inflammatory response are associated with an increased risk of periodontitis. Intriguingly, some of the genes are regulated by epigenetic modifications, supposedly established and reprogrammed in response to environmental stimuli. In addition, the treatment with epigenetic drugs improves treatment of periodontitis in a mouse model. In this review, we highlight some of the recent progress identifying genetic factors associated with periodontitis and point to promising approaches in epigenetic research that may contribute to the understanding of molecular mechanisms involving different responses in individuals and the early detection of predispositions that may guide in future oral treatment and disease prevention.

• 대한전자공학회:학술대회논문집
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• 대한전자공학회 1999년도 하계종합학술대회 논문집
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• pp.1053-1056
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• 1999

In this paper we propose a facial feature extraction method by using a genetic algorithm. The method uses a facial feature template to model the location of eyes and a mouth, and genetic algorithm is employed to find the optimal solution from the fitness function consisting of invariant moments. The simulation results show that the proposed algorithm can effectively extract facial features from face images with variations in position, size, rotation and expression.