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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2016.1
- 수록면
- 595 - 600 (6page)
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초록· 키워드
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Diabetic nephropathy (DN) is one of the major complications of diabetes. A tremendous amount of genetic variations have been identified to be associated with DN. However, most of them only generate from statistical associations at the DNA level, generally without direct functional evidence regarding their association mechanisms underlying DN. Based on the publicly available datasets and resources, this study performed integrative analyses (expression quantitative trait loci analysis, differential gene expression analysis and functional prediction analysis) to detect the molecular functional mechanisms underlying the associations for DN. Among 150 selected (P\E-4) genetic associations that were archived in the public databases, two single nucleotide polymorphisms (SNPs) (rs3135377 and rs9469220) have been found to act as cis-effect regulators of the ‘‘identified’’ gene (HLADRA and HLA-DRB1). These eQTL genes have differential expression signals in the DN-associated cell groups. These SNPs were predicted as regulatory sites by utilizing online prediction tools. Our data suggest potential mechanistic links underlying the association between DN and two identified SNPs. These results could help us to have a deeper understanding of the functional relevance of genetic variants with susceptibility to DN, which is useful for pursuit of in-depth validation studies to dissect their involvements and molecular functional mechanisms in DN.
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참고문헌 (30)
참고문헌 신청
안재희 / 2014 / Prevalence and Determinants of Diabetic Nephropathy in Korea: Korea National Health and Nutrition Examination Survey / Diabetes and Metabolism Journal 38(2):109~119
Alves-Leon SV / 2007 / Ethnicity-dependent association of HLA DRB1-DQA1-DQB1 alleles in Brazilian multiple sclerosis patients / Acta Neurol Scand 115:306~311
Amirzargar AA / 2004 / The association of HLA-DRB, DQA1, DQB1 alleles and haplotype frequency in Iranian patients with pulmonary tuberculosis / Int J Tuberc Lung Dis 8:1017~1021
Boyle AP / 2012 / Annotation of functional variation in personal genomes using RegulomeDB / Genome Res 22:1790~1797
Chen J / 2013 / Identifying candidate genes for Type 2 Diabetes Mellitus and obesity through gene expression profiling in multiple tissues or cells / J Diabetes Res 2013:970435
Alves-Leon SV / 2007 / Ethnicity-dependent association of HLA DRB1-DQA1-DQB1 alleles in Brazilian multiple sclerosis patients / Acta Neurol Scand 115:306~311
Amirzargar AA / 2004 / The association of HLA-DRB, DQA1, DQB1 alleles and haplotype frequency in Iranian patients with pulmonary tuberculosis / Int J Tuberc Lung Dis 8:1017~1021
Boyle AP / 2012 / Annotation of functional variation in personal genomes using RegulomeDB / Genome Res 22:1790~1797
Chen J / 2013 / Identifying candidate genes for Type 2 Diabetes Mellitus and obesity through gene expression profiling in multiple tissues or cells / J Diabetes Res 2013:970435
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