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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2021.9
- 수록면
- 1,049 - 1,057 (9page)
- DOI
- 10.1007/s13258-021-01120-0
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초록· 키워드
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Background Immunoglobulin A nephropathy (IgAN) is one of the most common primary forms of glomerulonephritis, while IgA vasculitis (IgAV) is the most common systemic vasculitis in children.
Objective Herein we aimed to uncover single nucleotide polymorphism (SNP) markers associated with these two related diseases by applying association tests and Sanger sequencing.
Methods Within the discovery stage, genomic DNA in blood samples from 101 enrolled patients were genotyped by the Korean Biobank Array. Association tests were performed with 397 Korean reference genomes. In the validation stage, 26 independent samples were genotyped by Sanger sequencing.
Results Four SNPs were identifed (P<5× 10?8) in the discovery stage. To determine whether the genotypes determined by SNP array were accurate, additional genotyping via Sanger sequencing was performed. As a result, only one SNP, rs9428555, was properly genotyped. In the validation stage, the minor allele (A>G) was found in as many as 15 out of 26 samples (minor allele frequency=0.288), even though this minor allele is rare in East Asians (<3%).
Conclusions We found rs9428555 as a novel susceptible locus associated with the development of both IgAN and IgAV in Koreans. Though we cannot conclude rs9428555 is the unique susceptible locus of IgAN and IgAV, it is likely a good marker as the minor allele of this SNP occurred much more often in the patient group here versus within East Asians as a whole.
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참고문헌 (41)
참고문헌 신청
Azab SF / 2016 / Vitamin D receptor gene BsmI polymorphisms in Egyptian children and adolescents with systemic lupus erythematosus : a casecontrol study / Medicine(baltimore) 95:e5233
Baran Y / 2015 / The landscape of genomic imprinting across diverse adult human tissues / Genome Res 25:927~936
Boyle AP / 2012 / Annotation of functional variation in personal genomes using RegulomeDB / Genome Res 22:1790~1797
Davin JC / 2014 / Henoch-Schonlein purpura nephritis in children / Nat Rev Nephrol 10:563~573
Deng J / 2017 / Calcitriol in the treatment of IgA nephropathy with non-nephrotic range proteinuria : a metaanalysis of randomized controlled trials / Clin Nephrol 87:21~27
Baran Y / 2015 / The landscape of genomic imprinting across diverse adult human tissues / Genome Res 25:927~936
Boyle AP / 2012 / Annotation of functional variation in personal genomes using RegulomeDB / Genome Res 22:1790~1797
Davin JC / 2014 / Henoch-Schonlein purpura nephritis in children / Nat Rev Nephrol 10:563~573
Deng J / 2017 / Calcitriol in the treatment of IgA nephropathy with non-nephrotic range proteinuria : a metaanalysis of randomized controlled trials / Clin Nephrol 87:21~27
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