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RISS 인기검색어
- 검색키워드
- 저자 : ( Hae-jin Hu ) (검색결과 36 건)
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Evaluating the results of the Momguard noninvasive prenatal test
Hae-Jin Hu,Young-Jun Kwon,Mijin Oh,Jihun Kim,Dae-Yeon Cho,Dong-Hee Seo 대한의학유전학회 2015 대한의학유전학회지 Vol.12 No.2
Purpose: To evaluate the performance of the Momguard noninvasive prenatal test by tracing the ‘screen positive’ results based on preliminary samples from Korean cohorts. Materials and Methods: This preliminary study is based on data collected by the LabGenomics Clinical Laboratory (Seongnam, Korea) with informed consent. Only pregnant women who underwent both the Momguard test and karyotyping were included in this study. Momguard test results were compared with those of the karyotyping analysis. Results: Among the 38 cases with ‘screen positive’ results by Momguard, 30 cases also had karyotyping results available. In three trisomy (T) 18 and three T13 cases, the Momguard results were concordant with the karyotyping results. For the T21 cases, except for one case belonging to the mid-risk zone, Momguard results from 23 out of 24 cases matched the karyotyping results. Conclusion: Momguard is a highly reliable screening tool for detecting T13, T18, and T21 cases in independent Korean cohort samples
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Common variants at the promoter region of the $APOM$ confer a risk of rheumatoid arthritis
Hu, Hae-Jin,Jin, Eun-Heui,Yim, Seon-Hee,Yang, So-Young,Jung, Seung-Hyun,Shin, Seung-Hun,Kim, Wan-Uk,Shim, Seung-Cheol,Kim, Tai-Gyu,Chung, Yeun-Jun Korean Society for Biochemistry and Molecular Bion 2011 Experimental and molecular medicine Vol.43 No.11
Although the genetic component in the etiology of rheumatoid arthritis (RA) has been consistently suggested, many novel genetic loci remain to uncover. To identify RA risk loci, we performed a genome-wide association study (GWAS) with 100 RA cases and 600 controls using Affymetrix SNP array 5.0. The candidate risk locus ($APOM$ gene) was re-sequenced to discover novel promoter and coding variants in a group of the subjects. Replication was performed with the independent case-control set comprising of 578 RAs and 711 controls. Through GWAS, we identified a novel SNP associated with RA at the $APOM$ gene in the MHC class III region on 6p21.33 (rs805297, odds ratio (OR) = 2.28, $P=5.20{\times}10^{-7}$). Three more polymorphisms were identified at the promoter region of the $APOM$ by the re-sequencing. For the replication, we genotyped the four SNP loci in the independent case-control set. The association of rs805297 identified by GWAS was successfully replicated (OR = 1.40, $P=6.65{\times}10^{-5}$). The association became more significant in the combined analysis of discovery and replication sets (OR = 1.56, $P=2.73{\times}10^{-10}$). The individuals with the rs805297 risk allele (A) at the promoter region showed a significantly lower level of $APOM$ expression compared with those with the protective allele (C) homozygote. In the logistic regressions by the phenotype status, the homozygote risk genotype (A/A) consistently showed higher ORs than the heterozygote one (A/C) for the phenotype-positive RAs. These results indicate that $APOM$ promoter polymorphisms are significantly associated with the susceptibility to RA.
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Hu, Jin-Ryul,Choi, Beom-Rak,Park, Hye-Rim,Sung, Mi-Sun,Yi, Hae-Yeon,Kang, Su-Jin,Ku, Sae-Kwang,Lee, Young-Joon The Society of Korean Medicine 2016 대한한의학회지 Vol.37 No.4
Objectives: The aim of this study was to solve skin moisturizing action mechanism issues of pomegranate concentrated solution (PCS) and dried pomegranate concentrate powder (PCP), at least partially. Materials and methods: In this study, ceramide and $TGF-{\beta}1$ contents with $TGF-{\beta}1$ mRNA expressions were analysis on the skin tissue homogenate samples after 56 days of continuous oral administration of PCS 1, 2, and 4 ml/kg, and PCP 100, 200 and 400 mg/kg. Results: Noticeable and dose-dependent increases of skin $TGF-{\beta}1$ contents and mRNA expressions were demonstrated in all PCP and PCS treated mice as compared with intact vehicle control, but no significant changes on the skin ceramide contents were demonstrated in all PCP and PCS treated mice as compared with intact vehicle control, in the current study. In addition, PCP 200 mg/kg showed similar increases of the skin $TGF-{\beta}1$ contents and mRNA expressions as compared to those of PCS 4 ml/kg. Conclusions: The presented results suggested that in vivo skin moisturizing effects of PCP and PCS after oral administration through up regulation of hyaluronan synthesis demonstrated in our previous results, may be possibly mediated by modulation of $TGF-{\beta}1$ expressions at least partially, without critical influences on the skin ceramide contents.
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Evaluating the results of the Momguard noninvasive prenatal test
Hu, Hae-Jin,Kwon, Young-Jun,Oh, Mijin,Kim, Jihun,Cho, Dae-Yeon,Seo, Dong-Hee Korean Society of Medical Genetics and Genomics 2015 대한의학유전학회지 Vol.12 No.2
Purpose: To evaluate the performance of the Momguard noninvasive prenatal test by tracing the 'screen positive' results based on preliminary samples from Korean cohorts. Materials and Methods: This preliminary study is based on data collected by the LabGenomics Clinical Laboratory (Seongnam, Korea) with informed consent. Only pregnant women who underwent both the Momguard test and karyotyping were included in this study. Momguard test results were compared with those of the karyotyping analysis. Results: Among the 38 cases with 'screen positive' results by Momguard, 30 cases also had karyotyping results available. In three trisomy (T) 18 and three T13 cases, the Momguard results were concordant with the karyotyping results. For the T21 cases, except for one case belonging to the mid-risk zone, Momguard results from 23 out of 24 cases matched the karyotyping results. Conclusion: Momguard is a highly reliable screening tool for detecting T13, T18, and T21 cases in independent Korean cohort samples.
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Song, Hae-Hiang,Hu, Hae-Jin,Seok, In-Hae,Chung, Yeun-Jun Korea Genome Organization 2012 Genomics & informatics Vol.10 No.2
Large-scale copy number variants (CNVs) in the human provide the raw material for delineating population differences, as natural selection may have affected at least some of the CNVs thus far discovered. Although the examination of relatively large numbers of specific ethnic groups has recently started in regard to inter-ethnic group differences in CNVs, identifying and understanding particular instances of natural selection have not been performed. The traditional $F_{ST}$ measure, obtained from differences in allele frequencies between populations, has been used to identify CNVs loci subject to geographically varying selection. Here, we review advances and the application of multinomial-Dirichlet likelihood methods of inference for identifying genome regions that have been subject to natural selection with the $F_{ST}$ estimates. The contents of presentation are not new; however, this review clarifies how the application of the methods to CNV data, which remains largely unexplored, is possible. A hierarchical Bayesian method, which is implemented via Markov Chain Monte Carlo, estimates locus-specific $F_{ST}$ and can identify outlying CNVs loci with large values of FST. By applying this Bayesian method to the publicly available CNV data, we identified the CNV loci that show signals of natural selection, which may elucidate the genetic basis of human disease and diversity.
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Genome-Wide Association Study of Korean Asthmatics: A Comparison With UK Asthmatics
Jin An,도아라,Kang Hae Yeon,김우진,이상훈,Lee Ji-Hyang,Song Woo-Jung,Kwon Hyouk-Soo,조유숙,문희범,Hu Sile,Adcock Ian M,Chung Kian Fan,Won Sungho,Kim Tae-Bum 대한천식알레르기학회 2021 Allergy, Asthma & Immunology Research Vol.13 No.4
Purpose Although genome-wide association studies (GWASs) represent the most powerful approach for identifying genes that influence asthma, to date, no studies have established genetic susceptibility to asthma in the Korean population. This study aimed to identify genetic variants associated with adult Korean asthmatics and compare them with the significant single nucleotide polymorphisms (SNPs) of UK asthmatics from the UK Biobank. Methods Patients were defined as having asthma if they were diagnosed by a doctor or taking medications for asthma. Controls were defined as individuals without asthma or chronic obstructive pulmonary disease. We performed quality control, genotype imputation, GWAS, and PrediXcan analyses. In the GWAS, a P value of < 5 × 10−8 was considered significant. We compared significant SNPs between Korean and UK patients with asthma. Results A total of 1,386 asthmatic patients and 5,205 controls were analyzed. The SNP rs1770, located near the human leukocyte antigen (HLA)-DQB1, was the most significant SNP (P = 4.5 × 10−10). In comparison with 24 SNPs in a GWAS of UK asthmatics, six SNPs were significant with the same odds ratio (OR) direction, including signals related to type 2 inflammation (e.g., IL1RL1, TSLP, and GATA3) and mucus plugging (e.g., MUC5AC). HLA-DQA1 showed an opposite OR direction. The HLA-DQB1 gene demonstrated significantly imputed mRNA expression in the lung tissue and whole blood. Conclusions The SNP rs1770 of HLA-DQB1 was the most significant in Korean asthmatics. Similarities and discrepancies were found in the genetic variants between Korean and UK asthmatics. GWAS of Korean asthmatics should be replicated and compared with those of GWAS of other ethnicities. Purpose Although genome-wide association studies (GWASs) represent the most powerful approach for identifying genes that influence asthma, to date, no studies have established genetic susceptibility to asthma in the Korean population. This study aimed to identify genetic variants associated with adult Korean asthmatics and compare them with the significant single nucleotide polymorphisms (SNPs) of UK asthmatics from the UK Biobank. Methods Patients were defined as having asthma if they were diagnosed by a doctor or taking medications for asthma. Controls were defined as individuals without asthma or chronic obstructive pulmonary disease. We performed quality control, genotype imputation, GWAS, and PrediXcan analyses. In the GWAS, a P value of < 5 × 10−8 was considered significant. We compared significant SNPs between Korean and UK patients with asthma. Results A total of 1,386 asthmatic patients and 5,205 controls were analyzed. The SNP rs1770, located near the human leukocyte antigen (HLA)-DQB1, was the most significant SNP (P = 4.5 × 10−10). In comparison with 24 SNPs in a GWAS of UK asthmatics, six SNPs were significant with the same odds ratio (OR) direction, including signals related to type 2 inflammation (e.g., IL1RL1, TSLP, and GATA3) and mucus plugging (e.g., MUC5AC). HLA-DQA1 showed an opposite OR direction. The HLA-DQB1 gene demonstrated significantly imputed mRNA expression in the lung tissue and whole blood. Conclusions The SNP rs1770 of HLA-DQB1 was the most significant in Korean asthmatics. Similarities and discrepancies were found in the genetic variants between Korean and UK asthmatics. GWAS of Korean asthmatics should be replicated and compared with those of GWAS of other ethnicities.
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Genome-Wide Association Study of Lung Cancer in Korean Non-Smoking Women
Kim, Jin Hee,Park, Kyunghee,Yim, Seon-Hee,Choi, Jin Eun,Sung, Jae Sook,Park, Ju-Yeon,Choi, Yi Young,Jeon, Hyo-Sung,Park, Jae Yong,Yoon, Hyoung Kyu,Kim, Yeul Hong,Yoo, Byung Su,Kim, Young Tae,Hu, Hae-J The Korean Academy of Medical Sciences 2013 JOURNAL OF KOREAN MEDICAL SCIENCE Vol.28 No.6
<P>Lung cancer in never-smokers ranks as the seventh most common cause of cancer death worldwide, and the incidence of lung cancer in non-smoking Korean women appears to be steadily increasing. To identify the effect of genetic polymorphisms on lung cancer risk in non-smoking Korean women, we conducted a genome-wide association study of Korean female non-smokers with lung cancer. We analyzed 440,794 genotype data of 285 cases and 1,455 controls, and nineteen SNPs were associated with lung cancer development (<I>P</I> < 0.001). For external validation, nineteen SNPs were replicated in another sample set composed of 293 cases and 495 controls, and only rs10187911 on 2p16.3 was significantly associated with lung cancer development (dominant model, OR of TG or GG, 1.58, <I>P</I> = 0.025). We confirmed this SNP again in another replication set composed of 546 cases and 744 controls (recessive model, OR of GG, 1.32, <I>P</I> = 0.027). OR and <I>P</I> value in combined set were 1.37 and < 0.001 in additive model, 1.51 and < 0.001 in dominant model, and 1.54 and < 0.001 in recessive model. The effect of this SNP was found to be consistent only in adenocarcinoma patients (1.36 and < 0.001 in additive model, 1.49 and < 0.001 in dominant model, and 1.54 and < 0.001 in recessive model). Furthermore, after imputation with HapMap data, we found regional significance near rs10187911, and five SNPs showed <I>P</I> value less than that of rs10187911 (rs12478012, rs4377361, rs13005521, rs12475464, and rs7564130). Therefore, we concluded that a region on chromosome 2 is significantly associated with lung cancer risk in Korean non-smoking women.</P>
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윤혜림(Hae Rym Yoon),한승호(Seung Ho Han),박창서(Chang Seo Park),김기덕(Ki Deog Kim),강민규(Min Kyu Kang),허경석(Kyung Seok Hu),곽현호(Hyun Ho Kwak),박현도(Hyun Do Park),고기석(Ki Seok Koh),김희진(Hee Jin Kim) 대한체질인류학회 2001 대한체질인류학회지 Vol.14 No.2
연구자들은 한국사람 시신 33쪽(남자 19, 여자 14)의 위턱을 대상으로 CT HiSpeed Advantage 전산화 단층촬영 장치를 이용하여 위턱 치아와 위턱뼈동굴의 DentaScan 프로그램을 이용한 재구성 영상을 얻고 단면영상은 V-worksTM3.0 프로그램으로 재구성하여 위턱뼈와 위턱뼈동굴의 3차원 영상을 만들어 위턱뼈동굴의 앞, 뒤 경계 및 형태계측을 시행하여 다음과 같은 결과를 얻었다. 위턱뼈동굴을 가쪽에서 관찰한 전체적언 형태와 위턱뼈동굴 아래 벽의 모양에 따라 6가지로 분류한 결과, 위턱뼈동굴의 아래 벽이 편평한 유형(18예,54.5%)과 아래 벽이 둥근 유형(7예, 21.2%)이 가장 많았다. 위턱뼈동굴의 앞 경계는 위턱 첫째 작은 어금니 부위에 위치한 경우가 가장 많았고(l4예, 58.4%), 다fms 경우는 송곳니 (8예, 33.3%)와 둘째 작은 어금니(2예, 8.3%)부위에 위치하였다. 위턱뼈동굴의 뒤 경계는 대부분 사랑니 부위와 사랑니 뒤쪽까지 뻗어 있었고 (3l예, 93.9%), 둘째 큰 어금니 부위에 위치하는 경우도 있었다. (2예, 6.1%). 3차원으로 재구성된 영상에서 위턱뼈동굴의 계측을 시행한 결과, 위턱뼈동굴의 최대앞뒤길이는 39.3mm(남자: 40.7mm, 여자: 37.4mm), 최대높이는 37.1mm(남자: 39.4mm, 여자: 34.0mm)였고, 위턱뼈동굴의 최대너비는 32.6mm(남자: 35.3mm, 여자: 28.9mm)로 모든 계측치는 남자가 여자보다 더 큰 경향 이었다. 위턱뼈동굴의 부피는 평균 15.1ml로서 남자는 l8.0ml, 여자는 11.1ml로 남자가 더 컸다.
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