• 제목/요약/키워드: Variants

검색결과 1,532건 처리시간 0.03초

A Follow-up Association Study of Genetic Variants for Bone Mineral Density in a Korean Population

  • Ham, Seokjin;Roh, Tae-Young
    • Genomics & Informatics
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    • 제12권3호
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    • pp.114-120
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    • 2014
  • Bone mineral density (BMD) is one of the quantitative traits that are genetically inherited and affected by various factors. Over the past years, genome-wide association studies (GWASs) have searched for many genetic loci that influence BMD. A recent meta-analysis of 17 GWASs for BMD of the femoral neck and lumbar spine is the largest GWAS for BMD to date and offers 64 single-nucleotide polymorphisms (SNPs) in 56 associated loci. We investigated these BMD loci in a Korean population called Korea Association REsource (KARE) to identify their validity in an independent study. The KARE population contains genotypes from 8,842 individuals, and their BMD levels were measured at the distal radius (BMD-RT) and midshaft tibia (BMD-TT). Thirteen genomic loci among 56 loci were significantly associated with BMD variations, and 3 loci were involved in known biological pathways related to BMD. In order to find putative functional variants, nearby SNPs in relation to linkage equilibrium were annotated, and their possible functional effects were predicted. These findings reveal that tens of variants, not a single factor, may contribute to the genetic architecture of BMD; have an important role regardless of ethnic group; and may highlight the importance of a replication study in GWASs to validate genuine loci for BMD variation.

다문화가족 아동이 지각한 어머니 애착과 일상적 스트레스가 자아개념과 우울에 미치는 영향 (The Effect of Mother's Attachment and Daily Stress on Children's Self-Concept and Depression in Multi-Ethnic Families)

  • 남윤주;이숙
    • 대한가정학회지
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    • 제47권9호
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    • pp.27-36
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    • 2009
  • The purpose of this study to gather information on demographic statistics, children’s attachment to their mothers, and daily stress variants in order to assess their effects on child’s self-concept and depression within multi-ethnic familiy settings. A questionnaire survey was used to targeted 3rd, 4th, 5th and 6th graders in elementary schools in Jeonnam. A total of 158 children were surveyed. SPSS for Windows 12.0 was used to carry out descriptive, and comparative statistical analysis such as Cronbach's $\alpha$, correlations analysis, and a hierarchical regression analysis. Result showed that the most significant variant affecting self-concept among children from multi-ethnic families was attachment to their mothers. Other related individual variants were in order of importance, communication skills, feelings of alienation, and mothers’ nationalities. The variant most responsible for having an affect on depression among children from multi-entnic families was the attachment to their mothers. Other related individual variants were in order of importance, feelings of alienation, stress from peer relationships, mothers’ nationalities, and stress from economic and physical environments.

복수 인터넷 웜의 확산 방식 연구 (The Propagation Dynamics of Multiple Internet Worms)

  • 신원
    • 한국정보통신학회논문지
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    • 제19권12호
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    • pp.2858-2864
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    • 2015
  • 최근 인터넷 웜은 악성코드 중 가장 빠른 속도로 확산하면서 정보 유출, 시스템 결함 등을 일으킬 수 있는 주요한 위협이 되고 있다. 특히, 복수의 인터넷 웜과 변종 웜이 동시 다발적으로 확산하면서 기존 인터넷 웜 대응 방식으로는 한계가 된다는 것을 여실히 보여주고 있다. 이러한 다양한 인터넷 웜에 효과적으로 대응하기 위해서는 복수 웜의 확산 방식을 이해하는 것이 필수적이다. 본 논문에서는 기존의 단일 웜 확산 모델을 개선하여 복수 변종 웜 확산에 대한 정확한 모델링을 목표로 하고, 다양한 실험을 통하여 복수 웜 확산의 양상을 분석한다.

Distribution of Human Papillomavirus Type 58 Variants in Progression of Cervical Dysplasia in Korean Women

  • Bae, Jeong-Hoon;Cheung, Jo L.K.;Lee, Sung-Jong;Luk, Alfred C.S.;Tong, Seo-Yun;Chan, Paul K.S.;Park, Jong-Sup
    • Journal of Microbiology and Biotechnology
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    • 제19권9호
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    • pp.1051-1054
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    • 2009
  • This cross-sectional study examined the distribution of HPV 58 sequence variation in Korean women for the first time. Among 1,750 Korean women, 53 women were positive for HPV 58 single infection, of whom 26 were without disease, 20 were with cervical intraepithelial neoplasia (CIN) 1, and 7 with CIN 2 or 3. Altogether, 36 different nucleotide sequence variations were identified with the L1, 20 within E2, 5 within E6, and 10 within E7. Further studies on variants of oncogenic HPVs are necessary, particularly for the purpose of developing more predictive HPV detection methods.

일본산메추리(Coturnix coturnix japonica)의 염색체 다형현상 (Chromosomal Polymorphism of Japanese Quail(Coturnix coturnix japonica))

  • 손시환
    • 한국가금학회지
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    • 제17권4호
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    • pp.275-280
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    • 1990
  • Constitutive heterochromatin의 염색체 다형현상에 대해 사람을 비롯하여 돼지, 생쥐, 말, 닭 등에서 보고된 바 있다. 본 연구에서는 일본산메추리의 C-band 다형체 뿐만 아니라 염색체의 형태적 다형체를 발견하여 이의 다형현상을 밝혔다. 일반적인 염색체 분석방법 및 C-banding 방법으로서 밝힌 3가지 염색체 다형체는 4번 염색체 +/- 동형체, +/- 이형체 및 -/- 동형체이다. 이와 같은 다형체들은 무작위 집단 내에서 일반적이고 지속적으로 나타나며 Mendel 법칙에 따른 유전양상을 보인다. 따라서 본 연구에서 밝힌 염색체 다형체들은 여러 세포유전학적 연구에 표식인자(chromosome marker)로서 유용하게 이용되어질 수 있을 것으로 생각된다.

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방사선 처리에 의해 유도된 돌연변이 벼의 주요 특징 (Selection and Agronomics Characterization of Radiation-Induced Variants in Rice)

  • 이인석;김동섭;최수련;송희섭;이상재;임용표;이영일
    • Journal of Plant Biotechnology
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    • 제30권3호
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    • pp.227-232
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    • 2003
  • Radiation technique has been used to develope mutant rice. Suwon 345 rice seeds were irradiated with 250 Gy gamma ray. Morphological characteristics of the variants in M$_{8}$ generation were observed and random amplified polymorphic DNA(RAPD) analysis was carried out. Plant height, panicle length, 1,000 grain weight and lodging were very different in mutants compared with donor cultivar. RAPD analysis showed that polymorphic bands were presented in several primers of the mutants. In comparison with original variety, variants were classified into four group through UPGMA analysis. A group has mutation trait in panicle length, B group in plant height and C group in 1,000 grain weight. Among mutants, no. 46 and 147 was ranked as salt tolerance and the malonaldehyde content of these mutants was more increased than that of original variety. Valuable mutants obtained will be useful for developing new cultivars and for studing gene function in molecular level.l.

Circulating Tumor Cells are Associated with Bone Metastasis of Lung Cancer

  • Cheng, Min;Liu, Lin;Yang, Hai-Shan;Liu, Gui-Feng
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권15호
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    • pp.6369-6374
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    • 2014
  • Lung cancer (LC) is the leading cause of cancer mortality worldwide, predominantly due to the difficulty of early diagnosis and its high metastatic potential. Recently, increasing evidence suggests that circulating tumour cells (CTCs) are responsible for cancer metastatic relapse, and CTCs have attracted interest in cancer metastasis detection and quantification. In present study, we collected blood samples from 67 patients with bone metastasis, and 30 patients without such metastasis, and searched for CTCs. Then the association of CTC numbers with bone metastasis and other clinico-pothological variants was analyzed. Results demonstrated that when 5 or 1 was taken as a threshhold for the CTC number, there were significantly higher positivity of CTCs in the bone metastasis group than in the non-metastasis group. While the increase in CTC number was not significantly associated with any other clinicopathological factor, including age, gender, pathological type, intrapulmonary metastasis and lymph node metastasis, the CTC number in patients with positivity of the last above mentioned variants was obviously higher than in patients with negativity of the two variants. Taken together, the CTC number appears to be significantly associated with the bone metastasis from lung cancer.

DMBase: An Integrated Genetic Information Resource for Diabetes Mellitus

  • Lee, Sun-Young;Park, Young-Kyu;Kim, Jae-Heup;Kim, Young-Joo
    • Interdisciplinary Bio Central
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    • 제3권2호
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    • pp.6.1-6.3
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    • 2011
  • Diabetes Mellitus (DM), often simply referred to as diabetes, has developed into a major health concern affecting more than 200 million people worldwide with approximately 4 million deaths per year attributed to the presence of the disease. Diabetes mellitus is categorized as Type 1 and Type 2, where Type 1 diabetes represents a lack of insulin production, and Type 2 diabetes is characterized by a relative lack of insulin receptor (i.e., decreased sensitivity to the effect of insulin) and cased by a complex interplay between genetic factors and environmental factors. Up to date, various studies on the pathology and mechanism in terms of genetic experiments have been conducted and approximately hundreds of genes were reported as diabetes mellitus associated genes. At this point, to support studies on the cause and mechanism of diabetes mellitus, an efficient database system to provide genetic variants related to diabetes mellitus is needed. DMBase is an integrated web-based genetic information resource for diabetes mellitus designed to service genomic variants, genes, and secondary information derived for diabetes mellitus genetics researchers. The current version of DMBase documents 754 genes with 3056 genetic variants and 66 pathways. It provides many effective search interfaces for retrieving diabetes mellitus and genetic information. A web interface for the DMBase is freely available at http://sysbio.kribb.re.kr/dmBase.

Association of Cyclin D1 Variants with Head and Neck Cancer Susceptibility: Evidence from a Meta-analysis

  • Lin, Hai;Fang, Lian;Lin, Dong
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권14호
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    • pp.5645-5651
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    • 2014
  • Whether cyclin D1 (CCND1) gene variants increase susceptibility to head and neck cancer (HNC) is undetermined. Therefore, we performed the present meta-analysis to systematically assess any possible association between CCND1 variants (G870A and G1722C) and HNC risk. Seventeen studies for CCND1 G870A and three studies for CCND1 G1722C were included. Overall, CCND1 polymorphisms (G870A and G1722C) had no association with increased HNC risk (p>0.05). In the subgroup analysis by smoking status, significantly increased HNC risk was found among smokers under allele contrast, homozygous comparison and recessive models (p<0.05), smoking carriers of A allele and AA genotype appearing at elevated risk. In conclusion, while there was overall a lack of any association between CCND1 polymorphisms (G870A and G1722C) and HNC risk, smokers carrying the A allele and AA genotype of the CCND1 G870A polymorphism may be susceptible to HNC development.

EvoSNP-DB: A database of genetic diversity in East Asian populations

  • Kim, Young Uk;Kim, Young Jin;Lee, Jong-Young;Park, Kiejung
    • BMB Reports
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    • 제46권8호
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    • pp.416-421
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    • 2013
  • Genome-wide association studies (GWAS) have become popular as an approach for the identification of large numbers of phenotype-associated variants. However, differences in genetic architecture and environmental factors mean that the effect of variants can vary across populations. Understanding population genetic diversity is valuable for the investigation of possible population specific and independent effects of variants. EvoSNP-DB aims to provide information regarding genetic diversity among East Asian populations, including Chinese, Japanese, and Korean. Non-redundant SNPs (1.6 million) were genotyped in 54 Korean trios (162 samples) and were compared with 4 million SNPs from HapMap phase II populations. EvoSNP-DB provides two user interfaces for data query and visualization, and integrates scores of genetic diversity (Fst and VarLD) at the level of SNPs, genes, and chromosome regions. EvoSNP-DB is a web-based application that allows users to navigate and visualize measurements of population genetic differences in an interactive manner, and is available online at [http://biomi.cdc.go.kr/EvoSNP/].