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dc.contributor.author고인송-
dc.date.accessioned2018-07-06T04:40:51Z-
dc.date.available2018-07-06T04:40:51Z-
dc.date.issued2016-06-
dc.identifier.citationTRANSLATIONAL RESEARCH, v. 177, Page. 31-40en_US
dc.identifier.issn1931-5244-
dc.identifier.issn1878-1810-
dc.identifier.urihttps://www.sciencedirect.com/science/article/pii/S1931524416300949?via%3Dihub-
dc.identifier.urihttps://repository.hanyang.ac.kr/handle/20.500.11754/72405-
dc.description.abstractHirschsprung disease (HSCR) is a neurocristopathy characterized by the absence of intramural ganglion cells along variable lengths of the gastrointestinal tract. Although the RET proto-oncogene is considered to be the main risk factor for HSCR, only about 30% of the HSCR cases can be explained by variations in previously known genes including RET. Recently, copy number variation (CNV) and loss of heterozygosity (LOH) have emerged as new ways to understand human genomic variation. The goal of this present study is to identify new HSCR genetic factors related to CNV in Korean patients. In the genome-wide genotyping, using Illumina's HumanOmnil-Quad BeadChip (1,140,419 markers), of 123 HSCR patients and 432 unaffected subjects (total n = 555), a total of 8,188 CNVs (1 kb similar to 1 mb) were identified by CNVpartition. As a result, 16 CNV regions and 13 LOH regions were identified as associated with HSCR (minimum P = 0.0005). Two top CNV regions (deletions at chr6:32675155-32680480 and chr22:20733495-21607293) were successfully validated by additional real-time quantitative polymerase chain reaction analysis. In addition, 2 CNV regions (6p21.32 and 22q11.21) and 2 LOH regions (3p22.2 and 14q23.3) were discovered to be unique to the HSCR patients group. Regarding the large-scale chromosomal aberrations (˃1 mb), 11 large aberrations in the HSCR patients group were identified, which suggests that they may be a risk factor for HSCR. Although further replication in a larger cohort is needed, our findings may contribute to the understanding of the etiology of HSCR.en_US
dc.description.sponsorshipThis work was supported by grants from the Basic Science Research Program through the National Research Foundation of Korea (NRF), funded by the Ministry of Education, Science and Technology (2010-0007857 and 2009-0093822) and the Ministry of Education (NRF-2012M3A9D1054450).en_US
dc.language.isoenen_US
dc.publisherELSEVIER SCIENCE INCen_US
dc.subjectDELETIONen_US
dc.subjectMUTATIONSen_US
dc.subjectGENEen_US
dc.titleA genome-wide association analysis of chromosomal aberrations and Hirschsprung diseaseen_US
dc.typeArticleen_US
dc.relation.volume177-
dc.identifier.doi10.1016/j.trsl.2016.06.001-
dc.relation.page31-40-
dc.relation.journalTRANSLATIONAL RESEARCH-
dc.contributor.googleauthorBae, Joon Seol-
dc.contributor.googleauthorKoh, Insong-
dc.contributor.googleauthorCheong, Hyun Sub-
dc.contributor.googleauthorSeo, Jeong-Meen-
dc.contributor.googleauthorKim, Dae-Yeon-
dc.contributor.googleauthorOh, Jung-Tak-
dc.contributor.googleauthorKim, Hyun-Young-
dc.contributor.googleauthorJung, Kyuwhan-
dc.contributor.googleauthorSul, Jae Hoon-
dc.contributor.googleauthorPark, Woong-Yang-
dc.relation.code2016001845-
dc.sector.campusS-
dc.sector.daehakCOLLEGE OF MEDICINE[S]-
dc.sector.departmentDEPARTMENT OF MEDICINE-
dc.identifier.pidinsong-
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COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
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