• BMB Reports
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• 제44권9호
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• pp.578-583
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• 2011

Aspartate aminotransferase (AST) and alanine aminotransferase (ALT) are biochemical markers used to test for liver diseases. Copy number variation (CNV) plays an important role in determining complex traits and is an emerging area in the study various diseases. We performed a genome-wide association study with liver function biomarkers AST and ALT in 407 unrelated Koreans. We assayed the genome-wide variations on an Affymetrix Genome-Wide 6.0 array, and CNVs were analyzed using HelixTree. Using single linear regression, 32 and 42 CNVs showed significance for AST and ALT, respectively (P value < 0.05). We compared CNV-based genes between the current study (KARE2; AST-140, ALT-172) and KARE1 (AST-1885, ALT-773) using NetBox. Results showed 9 genes (CIDEB, DFFA, PSMA3, PSMC5, PSMC6, PSMD12, PSMF1, SDC4, and SIAH1) were overlapped for AST, but no overlapped genes were found for ALT. Functional gene annotation analysis shown the proteasome pathway, Wnt signaling pathway, programmed cell death, and protein binding.

• 한국동물생명공학회지
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• 제38권3호
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• pp.158-166
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• 2023

Background: Copy number variation (CNV) can be identified using next-generation sequencing and microarray technologies, the research on the analysis of its association with meat traits in livestock breeding has significantly increased in recent years. Hanwoo is an inherent species raised in the Republic of Korea. It is now considered one of the most economically important species and a major food source mainly used for meat (Hanwoo beef). Methods: In this study, CNVs and the relationship between the obtained CNV regions (CNVRs) can be identified in the Hanwoo steer samples (n = 473) using Illumina Hanwoo SNP 50K bead chip and bioinformatic tools, which were used to locate the required data and meat traits were investigated. The PennCNV software was used for the identification of CNVs, followed by the use of the CNV Ruler software for locating the different CNVRs. Furthermore, bioinformatics analysis was performed. Results: We found a total of 2,575 autosomal CNVs (933 losses, 1,642 gains) and 416 CNVRs (289 gains, 111 losses, and 16 mixed), which were established with ranged in size from 2,183 bp to 983,333 bp and 10,004 bp to 381,836 bp, respectively. Upon analyzing the restriction of minor alleles frequency > 0.05 for meat traits association, 6 CNVRs in the carcass weight, 2 CNVRs in the marbling score, 3 CNVRs in the backfat thickness, and 2 CNVRs in the longissimus muscle area were related to the meat traits. In addition, we identified an overlap of 347 CNVRs. Moreover, 3 CNVRs were determined to have a gene that affects meat quality. Conclusions: Our results confirmed the relationship between Hanwoo CNVR and meat traits, and the possibility of overlapping candidate genes, annotations, and quantitative trait loci that results depended on to contribute to the greater understanding of CNVs in Hanwoo and its role in genetic variation among cattle livestock.

• Genomics & Informatics
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• 제9권4호
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• pp.152-160
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• 2011

Hypertension is the major factor of most death and high blood pressure (BP) can lead to stroke, myocardial infarction and cardiac failure. Moreover, hypertension is strongly correlated with body mass index (BMI). Although the exact causes of hypertension are still unclear, some of genetic loci were discovered from genome-wide association study (GWAS). Therefore, it is essential to study genetic variation for finding more genetic factor affecting hypertension. The purpose of our study is to conduct a CNV association study for hypertension-related traits, BP and BMI, in Korean individuals. We identified 2,206 CNV regions from 3,274 community-based Korean participants using the Affymetrix Genome-Wide Human SNP Array 6.0 platform and performed a logistic regression analysis of CNVs with two hypertension-related traits, BP and BMI. Moreover, the 4,692 participants in an independent cohort were selected for respective replication analyses. GWAS of CNV identified two loci encompassing previously known hypertension-related genes: LPA (lipoprotein) on 6q26, and JAK2 (Janus kinase 2) on 9p24, with suggestive p-values (0.0334 for LPA and 0.0305 for JAK2 ). These two positive findings, however, were not evaluated in the replication stage. Our result confirmed the conclusion of CNV study from the WTCCC suggesting weak association with common diseases. This is the first study of CNV association study with BP and BMI in Korean population and it provides a state of CNV association study with common human diseases using SNP array.

• Journal of Animal Science and Technology
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• 제52권6호
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• pp.491-498
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• 2010

Copy-number variation (CNV) in particular genomic segments owing to deletions or duplications can induce changes in cellular gene expression patterns and may increase susceptibility to diseases such as cancer. The aim of this study was to examine CNVs related to the incidence of epithelial ovarian cancer in chickens. Genomic DNA was extracted from blood cells and cancerous ovaries collected from four 120-week-old White Leghorn chickens and were used for array-based comparative genome hybridization (CGH) analysis. As a result, 25 amplified and 10 deleted CNV regions were detected in chicken ovarian cancer. Of these, 10 amplified and two deleted CNV regions contained genes associated with human ovarian cancer. Our study using a chicken model may provide a better understanding of human epithelial ovarian cancer.

• 한국가금학회지
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• 제41권4호
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• pp.305-311
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• 2014

복제수변이(Copy number variation, CNV)는 DNA 다양한 구조적 변화의 한 형태이다. 복제수변이는 인간의 질병 및 농업의 생산성에 영향을 미치는 것으로 알려져 있다. 이전 우리나라의 닭의 품종은 유럽에서 유입되어진 품종을 기반으로 구축되어져 있었다. 따라서 농촌진흥청 국립축산과학원에서는 20년 동안 재래품종을 복원하려고 노력하였고, 5품종 12계통으로 복원하였다. 최근 염기서열분석 기술의 발달로, 해상도가 좋은 게놈 전체의 복제수변이를 발굴할 수 있게 되었다. 그러나 한국 재래닭 품종에 대해서는 체계적인 연구가 이루어지지 않고 있다. 본 연구에서는 한국 재래 닭(계통 L)에 대해서 게놈 전체의 염기서열을 분석하고 닭의 참고서열과 비교하여 재래닭에서 확인된 복제수 변이를 보고하였다. 닭의 28개 염색체에서 총 501개의 복제수 변이를 확인하였고, 이를 Gain과 Loss로 나누어서 표시하였다. 또한 우리는 501개의 복제수 변이를 포함하고 있는 유전자의 기능을 분류하였다. 그 결과, 전사 및 유전자 조절에 관련된 유전자들이 많이 분류되었다. 본 연구의 결과는 복제수 변이와 한국 재래닭의 경제형질 간의 연관성을 설명할 수 있는 기초자료로 활용될 것으로 사료된다.

• Journal of Genetic Medicine
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• 제17권1호
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• pp.21-26
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• 2020

Purpose: To evaluate the additive value of prenatal chromosomal microarray analysis (CMA) in assessing increased nuchal translucency (NT) (≥3.5 mm) with normal karyotype and the possibility of detecting clinically significant genomic imbalance, based on specific indications. Materials and Methods: Invasive samples from 494 pregnancies with NT ≥3.5 mm, obtained from the Research Center of Fertility & Genetics of Hamchoon Women's Clinic between January 2019 and February 2020, were included in this study and CMA was performed in addition to a standard karyotype. Results: In total, 494 cases were subjected to both karyotype and CMA analyses. Among these, 199 cases of aneuploidy were excluded. CMA was performed on the remaining 295 cases (59.7%), which showed normal (231/295, 78.3%) or non-significant copy number variation (CNV), such as benign CNV or variants of uncertain clinical significance likely benign (53/295, 18.0%). Clinically significant CNVs were detected in 11 cases (11/295, 3.7%). Conclusion: Prenatal CMA resulted in a 3% to 4% higher CNV diagnosis rate in fetuses exhibiting increased NT (≥3.5 mm) without other ultrasound detected anomalies and normal karyotype. Therefore, we suggest using high resolution, non- targeting CMA to provide valuable additional information for prenatal diagnosis. Further, we recommend that a genetics specialist should be consulted to interpret the information appropriately and provide counseling and follow-up services after prenatal CMA.

• Parasites, Hosts and Diseases
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• 제47권2호
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• pp.83-91
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• 2009

The completion of many malaria parasite genomes provides great opportunities for genomewide characterization of gene expression and high-throughput genotyping. Substantial progress in malaria genomics and genotyping has been made recently, particularly the development of various microarray platforms for large-scale characterization of the Plasmodium falciparum genome. Microarray has been used for gene expression analysis, detection of single nucleotide polymorphism (SNP) and copy number variation (CNV), characterization of chromatin modifications, and other applications. Here we discuss some recent advances in genetic mapping and genomic studies of malaria parasites, focusing on the use of high-throughput arrays for the detection of SNP and CNV in the P. falciparum genome. Strategies for genetic mapping of malaria traits are also discussed.

• Genomics & Informatics
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• 제6권3호
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• pp.126-129
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• 2008

The robust identification and comprehensive profiling of copy number alterations (CNAs) is highly challenging. The amount of data obtained from high-throughput technologies such as array-based comparative genomic hybridization is often too large and it is required to develop a comprehensive and versatile tool for the detection and visualization of CNAs in a genome-wide scale. With this respective, we introduce a software framework, CGHscape that was originally developed to explore the CNAs for the study of copy number variation (CNV) or tumor biology. As a standalone program, CGHscape can be easily installed and run in Microsoft Windows platform. With a user-friendly interface, CGHscape provides a method for data smoothing to cope with the intrinsic noise of array data and CNA detection based on SW-ARRAY algorithm. The analysis results can be demonstrated as log2 plots for individual chromosomes or genomic distribution of identified CNAs. With extended applicability, CGHscape can be used for the initial screening and visualization of CNAs facilitating the cataloguing and characterizing chromosomal alterations of a cohort of samples.

• Journal of Animal Science and Technology
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• 제49권5호
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• pp.559-568
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• 2007

최근 들어 유전자 또는 DNA 분절의 반복수 변이 (CNV)에 관한 연구가 다수 수행되었으며, 그 분석 방법 및 기기 또한 다양하게 발달되었다. 본 연구는 Landrace 품종의 KIT 유전자 CNV 탐지를 위하여 다른 분석 방법들에 비하여 정확도가 높은 정량적 OLA 기법(qOLA)을 이용하였다. qOLA와 pyrosequencing assay의 조합하여 분석한 결과를 Landrace 44두에 대한 좌표 분석을 한 결과 I1/I1 또는 I3/i(IBe), I1/I2 또는 I3/IP, I1/I3, I1/IP 또는 I2/i(IBe), I2/I2, I2/IP의 6 genotype으로 분류되었으며, PROC FASTCLUS procedure을 이용한 통계 분석과 좌표 분석을 상호 비교한 결과 genotype의 분류가 100% 일치하였다. 기기간의 차이점을 조사하기 위해 qOLA_3100과 qOLA _3130의 관측치 비교를 실시한 결과 동일한 genotype 분류결과를 얻었다. 또한 정밀성 및 정확도 비교에서 qOLA_3100의 경우 표준편차와 변이계수의 평균이 2.33과 4.10로 qOLA_3130(2.67과 4.81)에 비하여 낮게 나타났다. qOLA 반응전 PCR 산물에 대하여 proteinase K 처리효과를 분석한 결과 pro- teinase K를 처리한 경우 전기영동 분석시 noise peak들이 제거되었으며 각 genotype의 이론적 비율에 보다 정확히 일치하였다.

• 한국감성과학회:학술대회논문집
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• 한국감성과학회 1997년도 한국감성과학회 연차학술대회논문집
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• pp.118-122
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• 1997

본 연구에서는 온열환경에 따른 쾌적감을 조사하기 위하여 온열환경을 평가할 수 있는 지표로서 생리신호를 분석하였다. 생리신호로는 인체의 자율신경계에 대한 반응을 나타내는 HRV변수 및 대뇌의 각성수준을 나타내는 CNA파형의 변이도를 이용하였다. HRV스펙트럼분석을 통해 얻어진 HF/LF변수를 이용하여 주어진 환경하에서 교감 및 부교감 신경의 활동성을 조사하였고, CNA 파형에서는 경고신호가 주어진 뒤 0.5-1초 구간의 면적값을 이용하여 온열쾌적감과의 상관성이 높게 나타나지 않은 반면, HRV스펙트럼분석에서는 휴지기에 비해 발과 얼굴부위에 대한 HF/LF값이 높은 사실을 통해 교감신경에 비해 부교감신경이 지배적이라는 사실을 알 수 있었다. 이러한 결과는 바과 얼굴이 주위온도에 따른 인체의 쾌적감을 변화시키는데에 있어서 주된 부위임을 나타내며 HRV스펙트럼분석 및 CNV파형의 관찰이 온열환경에 대한 쾌적감을 평가하는데 유용한 지표로 사용될 수 있음을 말해준다.