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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2015.1
- 수록면
- 247 - 255 (9page)
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Low density lipoprotein receptor (LDLR) playsan important role in plasma lipoprotein metabolism andpharmacological responses. Although mutations of LDLRand their functional associations with plasma LDL cholesterolconcentrations have been described, no comprehensivecomparisons of LDLR variants among populationsare established. The aim of this study is to define the distributionof single nucleotide polymorphisms (SNPs) ofLDLR and to discover novel variants across populationgroups. A total of 288 DNAs from 96 Korean, 48 Chinese,48 Japanese, 48 African-American, and 48 European-American subjects were resequenced. A total of 59 SNPs(18 in the coding regions, 37 in the introns, and 4 in the 30-untranslated region) were identified, including eight novelvariants. Polymorphisms of LDLR showed significantlydifferent distributions in comparisons among ethnicpopulation groups (P\0.05, Fisher’s exact test). Moreover,almost all of these differently distributed SNPs werecommon variants. Notably, prevalent variations—rs1003723, rs1799898, rs688, rs5925, rs6413504 in Europeans,nonsynonymous rs11669576 (Ala391Thr) in Africans,and rs14158 in Asians—were observed. In further insilico analyses for the novel SNPs, 2 intronic variants(?17716G[A in the intron 5 and ?38569A[C in theintron 16) were predicted as potential branch point sites foralternative splicing. Although this study is not free fromlimitations such as insufficient sample size and no functionalstudies on the novel SNPs, our findings providessupporting information about LDLR genetic variabilityamong ethnic groups and pharmacogenetics studies forplasma lipoprotein metabolism.
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참고문헌 (44)
참고문헌 신청
Adeyemo A / 2012 / Transferability and fine mapping of genome-wide associated loci for lipids in African Americans / BMC Med Genet 13:88
Ahn YI / 1994 / Role of common genetic polymorphisms in the LDL receptor gene in affecting plasma cholesterol levels in the general population / Arterioscler Thromb 14:663~670
Albers JJ / 2011 / Impact of site-specific N-glycosylation on cellular secretion, activity and specific activity of the plasma phospholipid transfer protein / Biochim Biophys Acta 1814:908~911
Andreotti G / 2008 / Polymorphisms of genes in the lipid metabolism pathway and risk of biliary tract cancers and stones: a population-based casecontrol study in Shanghai, China / Cancer Epidemiol Biomark Prev 17:525~534
Benjannet S / 2012 / Loss- and gain-of-function PCSK9 variants: cleavage specificity, dominant negative effects, and low density lipoprotein receptor (LDLR) degradation / J Biol Chem 287:33745~33755
Ahn YI / 1994 / Role of common genetic polymorphisms in the LDL receptor gene in affecting plasma cholesterol levels in the general population / Arterioscler Thromb 14:663~670
Albers JJ / 2011 / Impact of site-specific N-glycosylation on cellular secretion, activity and specific activity of the plasma phospholipid transfer protein / Biochim Biophys Acta 1814:908~911
Andreotti G / 2008 / Polymorphisms of genes in the lipid metabolism pathway and risk of biliary tract cancers and stones: a population-based casecontrol study in Shanghai, China / Cancer Epidemiol Biomark Prev 17:525~534
Benjannet S / 2012 / Loss- and gain-of-function PCSK9 variants: cleavage specificity, dominant negative effects, and low density lipoprotein receptor (LDLR) degradation / J Biol Chem 287:33745~33755
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