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Kim, Beom-Jun,Kim, Shin-Yoon,Cho, Yoon-Shin,Kim, Bon-Jo,Han, Bok-Ghee,Park, Eui-Kyun,Lee, Seung-Hun,Kim, Ha-Young,Kim, Ghi-Su,Lee, Jong-Young,Koh, Jung-Min Korean Society for Biochemistry and Molecular Bion 2011 Experimental and molecular medicine Vol.43 No.2
There is increasing evidence of a biochemical link between lipid oxidation and bone metabolism. Paraoxonase 1 (PON1) prevents the oxidation of low-density lipoprotein (LDL) and metabolizes biologically active phospholipids in oxidized LDLs. Here, we performed association analyses of genetic variation in $PON1$ to ascertain its contribution to osteoporotic fractures (OFs) and bone mineral density (BMD). We directly sequenced the $PON1$ gene in 24 Korean individuals and identified 26 sequence variants. A large population of Korean postmenopausal women ($n$ = 1,329) was then genotyped for eight selected $PON1$ polymorphisms. BMD at the lumbar spine and femoral neck was measured using dual-energy X-ray absorptiometry. Lateral thoracolumbar (T4-L4) radiographs were obtained for vertebral fracture assessment, and the occurrence of non-vertebral fractures (i.e., wrist, hip, forearm, humerus, rib, and pelvis) was examined using self-reported data. Multivariate analyses showed that none of the polymorphisms was associated with BMD at either site. However, +$5989A>G$ and +$26080T>C$ polymorphisms were significantly associated with non-vertebral and vertebral fractures, respectively, after adjustment for covariates. Specifically, the minor allele of +$5989A>G$ exerted a highly protective effect against non-vertebral fractures (OR = 0.59, $P$ = 0.036), whereas the minor allele of +$26080T>C$ was associated with increased susceptibility to vertebral fractures (OR = 1.73, $P$ = 0.020). When the risk for any OFs (i.e., vertebral or non-vertebral) was considered, the statistical significance of both polymorphisms persisted ($P$ = 0.002-0.010). These results suggest that $PON1$ polymorphisms could be one of useful genetic markers for OF risk in postmenopausal women.
Ryu, Ha-Jung,Jung, Ho-Youl,Park, Jung-Sun,Ryu, Gil-Mi,Heo, Jee Yeon,Kim, Jae-Jung,Moon, Song-Mean,Kim, Hung-Tae,Lee, Jong-Young,Koh, Insong,Kim, Jun-Woo,Rho, Jae Kyun,Han, Bok-Ghee,Kim, Hyungtae,Park, S.Karger 2006 International archives of allergy and immunology Vol.139 No.3
<P><I>Background and Methods:</I> Numerous genetic studies have mapped asthma susceptibility genes to a region on chromosome 5q31-33 in several populations. This region contains a cluster of cytokines and other immune-related genes important in immune response. In the present study, to determine the genetic variations and patterns of linkage disequilibrium (LD), we resequenced all the exons and promoter regions of the 29 asthma candidate genes in the chromosome 5q31-33 region. <I>Results:</I> We identified a total of 314 genetic variants, including 289 single nucleotide polymorphisms (SNPs), 22 insertion/deletion polymorphisms and 3 microsatellites. Standardized variance data for allele frequency revealed substantial differences in SNP allele frequencies among different ethnic groups. Interestingly, significant ethnic differences were observed mainly in intron SNPs. LD block analysis using 174 common SNPs with a frequency of >10% disclosed strong LD within most candidate genes. No significant LD was observed across genes, except for one LD block (CD14-IK block). Gene-based haplotype analyses showed that 1-5 haplotype-tagging SNPs may be used to define the six or fewer common haplotypes with a frequency of >5%, regardless of the number of SNPs. <I>Conclusion:</I> Overall, our results provide useful information for the identification of immune-mediated disease genes in the chromosome 5q31-33 region, as well as valuable evidence for gene-based haplotype analysis in disease association studies.</P><P>Copyright © 2006 S. Karger AG, Basel</P>
Replicative senescence of periodontal fibroblasts induces the changes in gene expression pattern
Yi, Tac Ghee,Jun, JI-Hae,Min, Byung-Moo,Kim, Moonkyu,Kim, Gwan-shik,Baek, Jeong-Hwa 대한구강생물학회 2007 International Journal of Oral Biology Vol.32 No.1
Tooth loss in elderly is mainly caused by alveolar bone loss via severe periodontitis. Although the severity of periodontitis is known to be affected by age, the aging process or the genetic changes during the aging of periodontal tissue cells are not well characterized. In this study, we investigated the effect of in vitro aging on the change of gene expression pattern in periodontal fibroblasts. Gingival fibroblasts (GF) and periodontal ligament fibroblasts (PDL) were obtained from two young patients and replicative senescence was induced by sequential subcultivation. When more than 90% cells were positively stained with senescence-associated β-galactosidase, those cells were regarded as aged cells. In aged GF and PDL, the level of phosphorylated retinoblastoma (RB) and p16^(INK4A) protein was significantly decreased and increased, respectively. However, the protein level of p53 and p21, well known senescence-inducing genes, did not increase in aged GF and PDL. Although p27^(kip1) and p15^(INK4B) another cyclin-dependent kinase inhibitors, were reported to be involved in replicative senescence of human cells, they were decreased in aged GF and PDL. Because senescent cells showed flattened and enlarged cell shape and are known to have increased focal adhesion, we examined the protein level of several integrins. Aged GF and PDL showed increased protein level of integrin α2, αv, and β1. When the gene expression profiles of actively proliferating young cells and aged cells were compared by cDNA microarray of 3,063 genes and were confirmed by reverse transcription polymerase chain reaction, 7 genes and 15 genes were significantly and commonly increased and decreased, respectively, in aged GF and PDL. Among them, included are the genes that were known to be involved in the regulation of cell cycle, gene transcription, or integrin signaling. The change of gene expression pattern in GF and PDL was minimally similar to that of oral keratinocyte. These results suggest that p16^(INK4A)/RB might be involved in replicative senescence of periodontal fibroblasts and the change of gene expression profile during aging process is cell type specific.
Copy number variations in East-Asian population and their evolutionary and functional implications
Yim, Seon-Hee,Kim, Tae-Min,Hu, Hae-Jin,Kim, Ji-Hong,Kim, Bong-Jo,Lee, Jong-Young,Han, Bok-Ghee,Shin, Seung-Hun,Jung, Seung-Hyun,Chung, Yeun-Jun Oxford University Press 2010 Human Molecular Genetics Vol.19 No.6
<P>Recent discovery of the copy number variation (CNV) in normal individuals has widened our understanding of genomic variation. However, most of the reported CNVs have been identified in Caucasians, which may not be directly applicable to people of different ethnicities. To profile CNV in East-Asian population, we screened CNVs in 3578 healthy, unrelated Korean individuals, using the Affymetrix Genome-Wide Human SNP array 5.0. We identified 144 207 CNVs using a pooled data set of 100 randomly chosen Korean females as a reference. The average number of CNVs per genome was 40.3, which is higher than that of CNVs previously reported using lower resolution platforms. The median size of CNVs was 18.9 kb (range 0.2–5406 kb). Copy number losses were 4.7 times more frequent than copy number gains. CNV regions (CNVRs) were defined by merging overlapping CNVs identified in two or more samples. In total, 4003 CNVRs were defined encompassing 241.9 Mb accounting for ∼8% of the human genome. A total of 2077 CNVRs (51.9%) were potentially novel. Known CNVRs were larger and more frequent than novel CNVRs. Sixteen percent of the CNVRs were observed in ≥1% of study subjects and 24% overlapped with the OMIM genes. A total of 476 (11.9%) CNVRs were associated with segmental duplications. CNVS/CNVRs identified in this study will be valuable resources for studying human genome diversity and its association with disease.</P>
Nam, Hye-Young,Kim, Hye-Ryun,Shim, Sung-Mi,Lee, Jae-Eun,Kim, Jun-Woo,Park, Hye-Kyung,Han, Bok-Ghee,Jeon, Jae-Pil Korea Genome Organization 2011 Genomics & informatics Vol.9 No.3
The Epstein-Barr virus-transformed lymphoblastoid cell line (LCL) is one of the major genomic resources for human genetics and immunological studies. Use of LCLs is currently extended to pharmacogenetic studies to investigate variations in human gene expression as well as drug responses between individuals. We evaluated four common internal controls for gene expression analysis of selected hematopoietic transcriptional regulatory genes between B cells and LCLs. In this study, the expression pattern analyses showed that TBP (TATA box-binding protein) is a suitable internal control for normalization, whereas GAPDH (glyceraldehyde-3-phosphate dehydrogenase) is not a good internal control for gene expression analyses of hematopoiesis-related genes between B cells and LCLs at different subculture passages. Using the TBP normalizer, we found significant gene expression changes in selected hematopoietic transcriptional regulatory genes (downregulation of RUNX1, RUNX3, CBFB, TLE1, and NOTCH2 ; upregulation of MSC and PLAGL2) between B cells and LCLs at different passage numbers. These results suggest that these hematopoietic transcriptional regulatory genes are potential cellular targets of EBV infection, contributing to EBV-mediated B-cell transformation and LCL immortalization.
Park, Jin Seok,Yi, Tac-Ghee,Park, Jong-Min,Han, Young Min,Kim, Jun-Hyung,Shin, Dong-Hee,Tak, Seon Ji,Lee, Kyuheon,Lee, Youn Sook,Jeon, Myung-Shin,Hahm, Ki-Baik,Song, Sun U,Park, Seok Hee the Society for Free Radical Research Japan 2015 Journal of clinical biochemistry and nutrition Vol.57 No.3
<P>Mouse bone marrow-derived clonal mesenchymal stem cells (mcMSCs), which were originated from a single cell by a subfractionation culturing method, are recognized as new paradigm for stem cell therapy featured with its homogenous cell population. Next to proven therapeutic effects against pancreatitis, in the current study we demonstrated that mcMSCs showed significant therapeutic effects in dextran sulfate sodium (DSS)-induced experimental colitis model supported with anti-inflammatory and restorative activities. mcMSCs significantly reduced the disease activity index (DAI) score, including weight loss, stool consistency, and intestinal bleeding and significantly increased survival rates. The pathological scores were also significantly improved with mcMSC. We have demonstrated that especial mucosal regeneration activity accompanied with significantly lowered level of apoptosis as beneficiary actions of mcMSCs in UC models. The levels of inflammatory cytokines including TNF-α, IFN-γ, IL-1β, IL-6, and IL-17 were all significantly concurrent with significantly repressed NF-κB activation compared to the control group and significantly decreased infiltrations of responsible macrophage and neutrophil. Conclusively, our findings provide the rationale that mcMSCs are applicable as a potential source of cell-based therapy in inflammatory bowel diseases, especially contributing either to prevent relapse or to accelerate healing as solution to unmet medical needs in IBD therapy.</P>
Cho, Yoon Shin,Go, Min Jin,Kim, Young Jin,Heo, Jee Yeon,Oh, Ji Hee,Ban, Hyo-Jeong,Yoon, Dankyu,Lee, Mi Hee,Kim, Dong-Joon,Park, Miey,Cha, Seung-Hun,Kim, Jun-Woo,Han, Bok-Ghee,Min, Haesook,Ahn, Younjhi Nature Publishing Group 2009 Nature genetics Vol.41 No.5
To identify genetic factors influencing quantitative traits of biomedical importance, we conducted a genome-wide association study in 8,842 samples from population-based cohorts recruited in Korea. For height and body mass index, most variants detected overlapped those reported in European samples. For the other traits examined, replication of promising GWAS signals in 7,861 independent Korean samples identified six previously unknown loci. For pulse rate, signals reaching genome-wide significance mapped to chromosomes 1q32 (rs12731740, P = 2.9 × 10<SUP>−9</SUP>) and 6q22 (rs12110693, P = 1.6 × 10<SUP>−9</SUP>), with the latter ∼400 kb from the coding sequence of GJA1. For systolic blood pressure, the most compelling association involved chromosome 12q21 and variants near the ATP2B1 gene (rs17249754, P = 1.3 × 10<SUP>−7</SUP>). For waist-hip ratio, variants on chromosome 12q24 (rs2074356, P = 7.8 × 10<SUP>−12</SUP>) showed convincing associations, although no regional transcript has strong biological candidacy. Finally, we identified two loci influencing bone mineral density at multiple sites. On chromosome 7q31, rs7776725 (within the FAM3C gene) was associated with bone density at the radius (P = 1.0 × 10<SUP>−11</SUP>), tibia (P = 1.6 × 10<SUP>−6</SUP>) and heel (P = 1.9 × 10<SUP>−10</SUP>). On chromosome 7p14, rs1721400 (mapping close to SFRP4, a frizzled protein gene) showed consistent associations at the same three sites (P = 2.2 × 10<SUP>−3</SUP>, P = 1.4 × 10<SUP>−7</SUP> and P = 6.0 × 10<SUP>−4</SUP>, respectively). This large-scale GWA analysis of well-characterized Korean population-based samples highlights previously unknown biological pathways.
심한 증식성 루푸스 신염과 혈전성 혈소판 감소성 자반증이 병발한 남성 환자에서 cyclophosphamide 치료 경험
정혜원 ( Hae Won Jung ),신준암 ( Jun Am Shin ),이유지 ( Yu Ji Lee ),강나리 ( Na Ree Kang ),권기영 ( Ghee Young Kwon ),한봉준 ( Bong Jun Han ),김윤구 ( Yoon Goo Kim ) 대한내과학회 2006 대한내과학회지 Vol.71 No.2
Thrombotic thrombocytopenic purpura is a rare but fatal complication of systemic lupus erythematosus. The diagnosis of thrombotic thrombocytopenic purpura as a syndrome distinct from systemic lupus erythematosus may be challenging particularly when thrombotic thrombocytopenic purpura is presented concomitantly with systemic lupus erythematosus. Early diagnosis and aggressive treatment including plasmapheresis would be required. However, recent reports have suggested that the use of cyclophosphamide may have a role. We describe a patient with systemic lupus erythematosus who was first presented with severe thrombotic thrombocytopenic purpura. Diagnosis was based on typical clinical features of thrombotic thrombocytopenic purpura and laboratory findings of active lupus nephritis. Renal biopsy also confirmed the coexistence of thrombotic thrombocytopenic purpura and diffuse proliferative lupus nephritis. Although prompt extensive plasmapheresis and high dose steroid therapy were performed, oliguric renal failure and thrombocytopenia persisted. After addition of cyclophosphamide to the treatment with plasmapheresis and steroid, clinical manifestations of thrombotic thrombocytopenic purpura and lupus nephritis were markedly improved. (Korean J Med 71:214-218, 2006)