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BACKGROUND: Osteoporotic fracture (OF) as a clinical endpoint is a major complication of osteoporosis. To screen for OF susceptibility genes, we performed a genome-wide association study and carried out de novo replication analysis of an East Asian population. METHODS: Association was tested using a logistic regression analysis. A meta-analysis was performed on the combined results using effect size and standard errors estimated for each study. RESULTS: In a combined meta-analysis of a discovery cohort (288 cases and 1139 controls), three hospital based sets in replication stage I (462 cases and 1745 controls), and an independent ethnic group in replication stage II (369 cases and 560 for controls), we identified a new locus associated with OF (rs784288 in the MECOM gene) that showed genome-wide significance (p=3.59×10(-8); OR 1.39). RNA interference revealed that a MECOM knockdown suppresses osteoclastogenesis. CONCLUSIONS: Our findings provide new insights into the genetic architecture underlying OF in East Asians.
Assuntos
Proteínas de Ligação a DNA/genética , Osteoporose/genética , Fraturas por Osteoporose/genética , Proto-Oncogenes/genética , Locos de Características Quantitativas/genética , Fatores de Transcrição/genética , Idoso , Estudos de Casos e Controles , Regulação da Expressão Gênica , Técnicas de Silenciamento de Genes , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Proteína do Locus do Complexo MDS1 e EVI1 , Pessoa de Meia-Idade , Osteogênese/genética , Osteoporose/patologia , Fraturas por Osteoporose/patologia , Polimorfismo de Nucleotídeo ÚnicoRESUMO
DNA barcoding has been widely used in species identification and biodiversity research. A short fragment of the mitochondrial cytochrome c oxidase subunit I (COI) sequence serves as a DNA bio-barcode. We collected DNA barcodes, based on COI sequences from 156 species (529 sequences) of fish, insects, and shellfish. We present results on phylogenetic relationships to assess biodiversity the in the Korean peninsula. Average GC% contents of the 68 fish species (46.9%), the 59 shellfish species (38.0%), and the 29 insect species (33.2%) are reported. Using the Kimura 2 parameter in all possible pairwise comparisons, the average interspecific distances were compared with the average intraspecific distances in fish (3.22 vs. 0.41), insects (2.06 vs. 0.25), and shellfish (3.58 vs. 0.14). Our results confirm that distance-based DNA barcoding provides sufficient information to identify and delineate fish, insect, and shellfish species by means of all possible pairwise comparisons. These results also confirm that the development of an effective molecular barcode identification system is possible. All DNA barcode sequences collected from our study will be useful for the interpretation of species-level identification and community-level patterns in fish, insects, and shellfish in Korea, although at the species level, the rate of correct identification in a diversified environment might be low.
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Personalized medicine is emerging as a main paradigm for risk prediction, pre-diagnosis, and effective prevention and treatment of disease. A large number of human biospecimens and their clinical data are essential resources for the success of personalized medicine as well as other biomedical research. The National Biobank of Korea (NBK) has collected well-annotated and high quality human biospecimens, and distributes them to the Korean biomedical scientists, through the Korea Biobank Project (KBP). The ultimate goal of NBK activities is to promote biomedical research and public health. As of December- 2011, the NBK has collected various human biospecimens from 525,416 participants including 325,952 Korean populations and 199,464 patients. The purpose of this paper is to introduce the KBP and quality control programs for collection of human biospecimens with high quality of NBK.
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BACKGROUND: Food exchange lists are one of the main methods of nutritional education. However, Korean food exchange lists have not been revised since 1994. Therefore, we surveyed the opinions of diabetes educators and patients with diabetes regarding the need for revision of the current food exchange lists. METHODS: For two weeks beginning on 10 March 2008, a 12-item questionnaire regarding the opinion and need for revision of the current food exchange lists was e-mailed to diabetes educators nationwide. Another 15-question survey was administered to patients with diabetes in 13 hospitals located in the Seoul and Gyeonggi regions of Korea. RESULTS: We obtained survey responses from 101 diabetes educators and 209 patients; 65 (64.3%) of the educators answered that the current food exchange lists should be revised. The items that needed revision were the glycemic index, addition of new foods and reaffirmation of exchange standard amounts. The patients demanded specific education about choosing appropriate foods, a balanced meal plan, proper snacks, and dining intake. CONCLUSION: Our survey results demonstrate the need to revise the Korean food exchange lists. This process should focus on glycemic index, the addition of new foods and reconfirmation of one exchange reference unit.
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DNA barcoding with the gene encoding cytochrome c oxidase I (COI) in the mitochondrial genome has been proposed as a standard marker to identify and discover animal species. Some migratory wild birds are suspected of transmitting avian influenza and pose a threat to aircraft safety because of bird strikes. We have previously reported the COI gene sequences of 92 Korean bird species. In the present study, we developed a DNA microarray to identify 17 selected bird species on the basis of nucleotide diversity. We designed and synthesized 19 specific oligonucleotide probes; these probes were arrayed on a silylated glass slide. The length of the probes was 19-24 bps. The COI sequences amplified from the tissues of the selected birds were labeled with a fluorescent probe for microarray hybridization, and unique hybridization patterns were detected for each selected species. These patterns may be considered diagnostic patterns for species identification. This microarray system will provide a sensitive and a high-throughput method for identification of Korean birds.
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Aves , Código de Barras de DNA Taxonômico , DNA Mitocondrial/genética , Complexo IV da Cadeia de Transporte de Elétrons/genética , Genes Mitocondriais , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Animais , Sequência de Bases , Aves/classificação , Aves/genética , Código de Barras de DNA Taxonômico/métodos , Sondas de DNA/síntese química , Sondas de DNA/genética , DNA Mitocondrial/química , Complexo IV da Cadeia de Transporte de Elétrons/química , Variação Genética , Influenza Aviária/classificação , Influenza Aviária/transmissão , Coreia (Geográfico) , Mitocôndrias/genética , Sondas de Oligonucleotídeos/síntese química , Sondas de Oligonucleotídeos/genética , Especificidade da EspécieRESUMO
BACKGROUND: The aim of this study is to evaluate the effect of a web-based comprehensive information system, consisting of Internet and cellular phone use, on blood glucose control. METHODS: We established eMOD (electronic Management of Diabetes), a web-based ubiquitous information system, for cell phone users along with a website for Internet users to provide diabetes education. We examined whether this information system has the same impact on glycemic control as conventional education for the diabetes patient. Forty volunteers were enrolled and randomly assigned to either the eMOD experimental group (n = 20) or the control group (n = 20). Blood glucose and glycated hemoglobin (A1C) levels were evaluated at baseline and after 6 months. RESULTS: The two groups were homogeneous in terms of age, sex, and diabetes' duration at baseline. A1C (from 9.0 +/- 2.3% to 7.5 +/- 1.4%, P = 0.031) and postprandial glucose level (228.1 +/- 79.7 to 173.5 +/- 50.2 mg/dL, P = 0.030) were significantly decreased over time in the intervention group but not in the control group. There was a significant relationship between the change in A1C and the frequency of access to the eMOD system via cellular phone (r = 0.766, P = 0.03; coefficient -0.147). CONCLUSIONS: A1C was improved by a web-based intervention not only via computer but also via cellular phone at 6 months post-initiation in patients with type 2 diabetes. These results indicate that the use of a convenient web-based education system could be more effective for glycemic control than traditional education for diabetes patients.
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Automonitorização da Glicemia/métodos , Glicemia , Bases de Dados como Assunto , Diabetes Mellitus Tipo 2/sangue , Educação de Pacientes como Assunto/métodos , Adulto , Telefone Celular , Distribuição de Qui-Quadrado , Instrução por Computador , Feminino , Humanos , Internet , Masculino , Pessoa de Meia-Idade , Análise de RegressãoRESUMO
DNA barcoding, an inventory of DNA sequences from a standardized genomic region, provides a bio-barcode for identifying and discovering species. Several recent studies suggest that the sequence diversity in a 648 bp region of the mitochondrial gene for cytochrome c oxi- dase I (COI) might serve as a DNA barcode for identify- ing animal species such as North American birds, in- sects and fishes. The present study tested the effective- ness of a COI barcode in discriminating Korean bird species. We determined the 5' terminus of the COI bar- code for 92 species of Korean birds and found that spe- cies identification was unambiguous; the genetic differ- ences between closely related species were, on average, 25 times higher than the differences within species. We identified only one misidentified species out of 239 specimens in a genetic resource bank, so confirming the accuracy of species identification in the banking system. We also identified two potential composite species, calling for further investigation using more samples. The finding of large COI sequence differences between species confirms the effectiveness of COI barcodes for identifying Korean bird species. To bring greater reliability to the identification of species, increased in- tra- and interspecies sampling, as well as supplementa- tion of the mitochondrial barcodes with nuclear ones, is needed.