Abstract
Emphysema is the major component of chronic obstructive pulmonary disease (COPD), which is the fourth leading cause of death in the world. Several epidemiologic studies suggest that genetic factors may have an important role in the pathogenesis of emphysema. We analyzed the gene expression profiles of chromosomal aberrations using array comparative genomic hybridization (array CGH) in 32 patients with emphysema to identify the candidate genes that might be causally involved in the pathogenesis of emphysema. Copy number gains and losses were detected in chromosomal regions, and the corresponding genes were confirmed by real-time polymerase chain reaction. Several frequently altered loci were found, including a gain at 5p15.33 (60% of the study subjects), and a loss at 7q22.1 (31% of the study subjects). DNA gains were identified at a high frequency at 1p, 5p, 11p, 12p, 15q, 17p, 18q, 21q, and 22q, whereas DNA losses were frequently found at 7q and 22q. We found that the fold change levels were highest at the CYP4B1 (1p33), JUN (1p32.1), NOTCH2 (1p12-p11.2), SDHA (5p15.33), KCNQ1 (11p15.5-p15.4), NINJ2 (12p13.33), PCSK6 (15q26.3), ABR (17p13.3), CTDP1 (18q23), RUNX1 (21q22.12) and HDAC10 (22q13.33) gene loci. We also observed losses in the MUC17 (7q22.1), COMT (22q11.21) and GSTT1 (22q11.2) genes. These studies show that array CGH is a useful tool for the identification of gene alterations in cases of emphysema and that the aforementioned genes might represent potential candidate genes involved in the pathogenesis of emphysema.
| Original language | English |
|---|---|
| Pages (from-to) | 165-172 |
| Number of pages | 8 |
| Journal | Lung |
| Volume | 187 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - 2009 Jun 1 |
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Keywords
- Array CGH
- Chromosomal aberration
- Emphysema
- Lung cancer
- Real-time polymerase chain reaction
ASJC Scopus subject areas
- Pulmonary and Respiratory Medicine
Cite this
Array CGH reveals genomic aberrations in human emphysema. / Choi, Jin Soo; Lee, Woon Jeong; Baik, Seung Ho; Yoon, Hyoung Kyu; Lee, Kweon Haeng; Kim, Yeul Hong; Lim, Young; Wang, Young Pil.
In: Lung, Vol. 187, No. 3, 01.06.2009, p. 165-172.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Array CGH reveals genomic aberrations in human emphysema
AU - Choi, Jin Soo
AU - Lee, Woon Jeong
AU - Baik, Seung Ho
AU - Yoon, Hyoung Kyu
AU - Lee, Kweon Haeng
AU - Kim, Yeul Hong
AU - Lim, Young
AU - Wang, Young Pil
PY - 2009/6/1
Y1 - 2009/6/1
N2 - Emphysema is the major component of chronic obstructive pulmonary disease (COPD), which is the fourth leading cause of death in the world. Several epidemiologic studies suggest that genetic factors may have an important role in the pathogenesis of emphysema. We analyzed the gene expression profiles of chromosomal aberrations using array comparative genomic hybridization (array CGH) in 32 patients with emphysema to identify the candidate genes that might be causally involved in the pathogenesis of emphysema. Copy number gains and losses were detected in chromosomal regions, and the corresponding genes were confirmed by real-time polymerase chain reaction. Several frequently altered loci were found, including a gain at 5p15.33 (60% of the study subjects), and a loss at 7q22.1 (31% of the study subjects). DNA gains were identified at a high frequency at 1p, 5p, 11p, 12p, 15q, 17p, 18q, 21q, and 22q, whereas DNA losses were frequently found at 7q and 22q. We found that the fold change levels were highest at the CYP4B1 (1p33), JUN (1p32.1), NOTCH2 (1p12-p11.2), SDHA (5p15.33), KCNQ1 (11p15.5-p15.4), NINJ2 (12p13.33), PCSK6 (15q26.3), ABR (17p13.3), CTDP1 (18q23), RUNX1 (21q22.12) and HDAC10 (22q13.33) gene loci. We also observed losses in the MUC17 (7q22.1), COMT (22q11.21) and GSTT1 (22q11.2) genes. These studies show that array CGH is a useful tool for the identification of gene alterations in cases of emphysema and that the aforementioned genes might represent potential candidate genes involved in the pathogenesis of emphysema.
AB - Emphysema is the major component of chronic obstructive pulmonary disease (COPD), which is the fourth leading cause of death in the world. Several epidemiologic studies suggest that genetic factors may have an important role in the pathogenesis of emphysema. We analyzed the gene expression profiles of chromosomal aberrations using array comparative genomic hybridization (array CGH) in 32 patients with emphysema to identify the candidate genes that might be causally involved in the pathogenesis of emphysema. Copy number gains and losses were detected in chromosomal regions, and the corresponding genes were confirmed by real-time polymerase chain reaction. Several frequently altered loci were found, including a gain at 5p15.33 (60% of the study subjects), and a loss at 7q22.1 (31% of the study subjects). DNA gains were identified at a high frequency at 1p, 5p, 11p, 12p, 15q, 17p, 18q, 21q, and 22q, whereas DNA losses were frequently found at 7q and 22q. We found that the fold change levels were highest at the CYP4B1 (1p33), JUN (1p32.1), NOTCH2 (1p12-p11.2), SDHA (5p15.33), KCNQ1 (11p15.5-p15.4), NINJ2 (12p13.33), PCSK6 (15q26.3), ABR (17p13.3), CTDP1 (18q23), RUNX1 (21q22.12) and HDAC10 (22q13.33) gene loci. We also observed losses in the MUC17 (7q22.1), COMT (22q11.21) and GSTT1 (22q11.2) genes. These studies show that array CGH is a useful tool for the identification of gene alterations in cases of emphysema and that the aforementioned genes might represent potential candidate genes involved in the pathogenesis of emphysema.
KW - Array CGH
KW - Chromosomal aberration
KW - Emphysema
KW - Lung cancer
KW - Real-time polymerase chain reaction
UR - http://www.scopus.com/inward/record.url?scp=67349234894&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=67349234894&partnerID=8YFLogxK
U2 - 10.1007/s00408-009-9142-x
DO - 10.1007/s00408-009-9142-x
M3 - Article
C2 - 19352772
AN - SCOPUS:67349234894
VL - 187
SP - 165
EP - 172
JO - Lung
JF - Lung
SN - 0341-2040
IS - 3
ER -