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논문 기본 정보

자료유형
학술저널
저자정보
Shim, Unjin (Department of Internal Medicine, Seoul Seonam Hospital, Ewha Womans University Medical Center) Kim, Han-Na (Department of Biochemistry, Ewha Womans University School of Medicine) Sung, Yeon-Ah (Department of Internal Medicine, Ewha Womans University School of Medicine) Kim, Hyung-Lae (Department of Biochemistry, Ewha Womans University School of Medicine)
저널정보
한국유전체학회 Genomics & informatics Genomics & informatics 제12권 제4호
발행연도
2014.1
수록면
195 - 202 (8page)

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Metabolic syndrome (MetS) is a complex disorder related to insulin resistance, obesity, and inflammation. Genetic and environmental factors also contribute to the development of MetS, and through genome-wide association studies (GWASs), important susceptibility loci have been identified. However, GWASs focus more on individual single-nucleotide polymorphisms (SNPs), explaining only a small portion of genetic heritability. To overcome this limitation, pathway analyses are being applied to GWAS datasets. The aim of this study is to elucidate the biological pathways involved in the pathogenesis of MetS through pathway analysis. Cohort data from the Korea Associated Resource (KARE) was used for analysis, which include 8,842 individuals (age, $52.2{\pm}8.9years$ ; body mass index, $24.6{\pm}3.2kg/m^2$). A total of 312,121 autosomal SNPs were obtained after quality control. Pathway analysis was conducted using Meta-analysis Gene-Set Enrichment of Variant Associations (MAGENTA) to discover the biological pathways associated with MetS. In the discovery phase, SNPs from chromosome 12, including rs11066280, rs2074356, and rs12229654, were associated with MetS (p < $5{\times}10^{-6}$), and rs11066280 satisfied the Bonferroni-corrected cutoff (unadjusted p < $1.38{\times}10^{-7}$, Bonferroni-adjusted p < 0.05). Through pathway analysis, biological pathways, including electron carrier activity, signaling by platelet-derived growth factor (PDGF), the mitogen-activated protein kinase kinase kinase cascade, PDGF binding, peroxisome proliferator-activated receptor (PPAR) signaling, and DNA repair, were associated with MetS. Through pathway analysis of MetS, pathways related with PDGF, mitogen-activated protein kinase, and PPAR signaling, as well as nucleic acid binding, protein secretion, and DNA repair, were identified. Further studies will be needed to clarify the genetic pathogenesis leading to MetS.
#genome-wide association studies #metabolic cardiovascular syndrome

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참고문헌 (81)

참고문헌 신청
de Carvalho Vidigal F / 2013 / Prevalence of metabolic syndrome in Brazilian adults: a systematic review / BMC Public Health 13:1198 google schola Márquez-Sandoval F / 2011 / The prevalence of metabolic syndrome in Latin America: a systematic review / Public Health Nutr 14:1702~1713 google schola Aguilera CM / 2013 / Genetic susceptibility to obesity and metabolic syndrome in childhood / Nutr Hosp 28(Suppl 5):44~55 google schola Hoang KC / 2007 / The metabolic syndrome in East Asians / J Cardiometab Syndr 2:276~282 google schola Nestel P / 2007 / Metabolic syndrome: recent prevalence in East and Southeast Asian populations / Asia Pac J Clin Nutr 16:362~367 google schola

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