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Replication of an African-American GWAS on blood pressure and hypertension in the Korean population
진현석,홍경원,임지은,오범석 한국유전학회 2011 Genes & Genomics Vol.33 No.2
Hypertension is a complex disease that is caused by the interaction of multiple genetic and environmental risk factors, affecting 30% adult in industrialized countries. The identification of genetic factors that impact one's predisposition to hypertension and its progression is an ongoing challenge. A genome-wide association study of African-Americans, who have one of the highest rates of hypertension in the world,was reported. We replicated the GWAS results in 8842 unrelated Koreans. Fifteen of the 30 reported SNPs were analyzed for their association with blood pressure and hypertension. Linear regression was used to analyze blood pressure as a quantitative trait in 7551 subjects, and a case-control study was performed using 1968 hypertensive cases and 4452 normotensive controls by logistic regression analysis. The quantitative trait study demonstrated a moderate association of 2 SNPs, rs9301196 (p=4.9×10^(-3) for diastolic blood pressure) and rs2823756 (p=0.04 for systolic blood pressure), which were also associated with hypertension (p=0.042 and p=6.3×10^(-3), respectively). Further, 3 SNPs were associated with hypertension (p=0.042 for rs7902529,p=0.027 for rs10135446, and p=0.01 for rs4613079) but not with blood pressure. Based on the moderate association signals and the low proportion of positive signals, this cross validation between African-Americans and Asians suggests that association studies of blood pressure traits require a larger number of subjects and a more refined design.
진현석,홍경원,임지은,한혜리,이종영,박헌국,오범석 한국유전체학회 2008 Genomics & informatics Vol.6 No.3
Blood pressure refers to the force exerted by circulating blood on the walls of blood vessels, and chronical elevation of blood pressure is known as hypertension. Although hypertension is affected by genetic and environmental factors, the genetic background of hypertension is not fully understood. One of the candidate genetic factors, Prostaglandin-endoperoxide synthase 2 (PTGS2), is a membrane-bound enzyme, catalyzing the conversion of arachidonic acid to prostaglandin, and recently SNPs of PTGS2 gene was associated with hypertension in Japanese population. Therefore the association of PTGS2 polymorphisms was investigated with blood pressure in healthy Korean subjects, 470 unrelated individuals randomly selected from Ansung and Ansan cohorts. The 25 SNPs of PTGS2 gene were identified by the sequencing analysis of 24 Korean samples. Among identified polymorphisms, three SNPs (rs689466, -1329A>G; rs5275, +6365T>C; rs4648308, +8806G> A) were selected for further association analysis, and rs689466 located in promoter region was associated with blood pressure as well as triglyceride level in the blood. By in silico analysis, rs689466 locates in v-Myb transcription factor binding site, and the v-Myb site disappears when the SNP is changed from A to G nucleotide. Individuals with A/G and G/G genotype in rs689466 have higher blood pressure than those with A/A genotype, and the regression p-value is 0.008 for systolic and 0.004 for diastolic blood pressure. In summary, the PTGS2 polymorphism (rs689466) is associated with blood pressure in Asian populations based on this and Japanese studies, shedding light on it as a genetic risk marker of hypertension.
진현석,이상인,박상정,Jin, Hyun-Seok,Lee, Sang-In,Park, Sangjung 대한임상검사과학회 2018 대한임상검사과학회지(KJCLS) Vol.50 No.2
결핵은 본질적으로 MTB에 의해 발생하는 감염성 질환이지만 발병의 과정에는 숙주의 면역계와 연관성 있는 하는 유전자가 관여한다. ITGB2 유전자는 인테그린 beta 2 chain인 CD18 단백질을 암호화 하고 있는 유전자로 염색체 21번에 존재하고 있다. 인테그린 beat 2 chain은 백혈구에서 발현하는 인테그린으로 백혈구의 성숙 및 부착에 매우 중요한 역할을 수행하는 단백질이다. ITGB2는 결핵 발병에서 MTB의 탐식과 백혈구의 집합에도 중요한 역할을 수행한다고 알려졌다. 따라서 이번 연구는 한국인의 유전체 데이터를 활용하여 결핵 발생 환자들과 정상 대조군 사이에서 ITGB2의 유전적 다형성의 빈도에 통계적으로 유의한 차이가 존재하는지를 알아보고자 하였다. 그 결과 10개의 SNP에서 유의한 상관관계를 확인할 수 있었다. 가장 유의성 있는 SNP는 rs113421921 였다 (OR=0.69, CI: 0.53~0.90, $P=5.8{\times}10^{-3}$). 또한 rs173098의 경우는 전사 보조인자인 p300이 결합할 가능성이 있는 염기서열이 존재하여 유전적 다형성에 따라 ITGB2 유전자 발현에 영향을 미칠 수 있음을 확인할 수 있었다. 이러한 결과는 결핵의 발병 기전이 백혈구 집합이나 부착과 같은 숙주의 면역 기능과 관련된 다양한 유전적 요인에 의해 영향을 받을 수 있음을 시사한다. 이 연구결과는 결핵의 발병에 숙주 면역계의 유전자들이 영향을 줄 수 있다고 볼 수 있다. 이러한 결과들을 통해 MTB 감염에 대해 각 사람들 별로 감염의 진행과정과 결과에 차이를 가져다 주는 유전적 배경에 대한 이해에 기반을 제공할 것으로 기대한다. Tuberculosis (TB) is an infectious disease caused by Mycobacterium tuberculosis (MTB), but the genes associated with the host immune system can be attributed to the development of TB. The ITGB2 gene encodes the integrin beta 2 chain CD18 protein and is present on chromosome 21. The integrin beta 2 chain is an integrin expressed in leukocytes and plays a very important role in leukocyte maturation and attachment. ITGB2 plays an important role in the phagocytosis of MTB and the aggregation of leukocytes in MTB infections. This study examined the genetic polymorphisms of the ITGB2 gene between the TB case and normal control using Korean genomic and epidemiologic data. As a result, a statistically significant correlation was confirmed in 10 SNPs. The most significant SNP was rs113421921 (OR=0.69, CI: 0.53~0.90, $P=5.8{\times}10^{-3}$). In addition, rs173098, one of the significant 10 SNPs, is possibly located in a binding motif with the transcription factor cofactor p300, and can affect ITGB2 gene expression. These findings suggest that the pathogenesis of TB may be influenced by a range of genetic factors related to the immune function of the host, e.g., the reactions associated with the recruitment and attachment of leukocytes. The results of this study could be used to predict the infection control for tuberculosis in a patient-tailored manner.
진현석 한국유가공기술과학회 1999 Journal of Dairy Science and Biotechnology (JMSB) Vol.17 No.1
Milk is a first food for as long as the mammalian race has existed. A characteristic unique to mammal is their ability to secrete milk as a source of nutrients and immunological protection for their young. From a nutitrional viewpoint, milk has heen described as nature's most perfect food, owing mainly to its biological role as the only source of nutrition for the infant mammal. Milk is estimated to contain more than 100,000 molecular species, However, the average contents of milk can be simplified to 3.4% fat, 3.1% protein (80% casein protein and 20% whey protein), 4.5% lactose, and 0.7% ash. Chemically, milk is a very complex fluid rich in nutrients, antibodies, growth factors, antimicrobial components etc. This report will discuss functional properties of milk components, such as lactoferrin, opoid peptide, CPP, cGMP and sialic acid etc.