ArticleThe HUGO journal2009
Targeted genome-wide investigation identifies novel SNPs associated with diabetic nephropathy.
Article in The HUGO journal, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 17 citations in OpenAlex.
- Predicting and Understanding the Pathology of Single Nucleotide Variants in HumanAntioxidants (Basel, Switzerland) · 2022Article
- Transcription-translation error:Informatics in medicine unlocked · 2021Article
- Genetic and Epigenetic Studies in Diabetic Kidney Disease.Frontiers in genetics · 2019Review
- A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes.Diabetes · 2018Article
- The Biological Influence and Clinical Relevance of Polymorphism Within the NKG2D Ligands.Frontiers in immunology · 2018Review
- Matrix Metalloproteinase 9 Gene Promoter (rs 3918242) Mutation Reduces the Risk of Diabetic Microvascular Complications.International journal of environmental research and public health · 2015Article
- Genetics of diabetic nephropathy: a long road of discovery.Current diabetes reports · 2015Review
- Functional genomic annotation of genetic risk loci highlights inflammation and epithelial biology networks in CKD.Journal of the American Society of Nephrology : JASN · 2015Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Loci contributing to complex disease have been identified by focusing on genome-wide scans utilising non-synonymous single nucleotide polymorphisms (nsSNPs). We employed Illumina's HNS12 BeadChip (13,917 high-value SNPs) which was specifically designed to capture nsSNPs and ideally complements more dense genome-wide association studies that fail to consider many of these putatively functional variants. The HNS12 panel also includes 870 tag SNPs covering the major histocompatibility region. All individuals genotyped in this study were Caucasians with (cases) and without (controls) diabetic nephropathy. About 449 individuals with type 2 diabetes (203 cases, 246 controls) were genotyped in the initial study. 1,467 individuals with type 1 diabetes (718 cases, 749 controls) were genotyped in the follow up study. 11,152 SNPs were successfully analysed and ranked for association with diabetic nephropathy based on significance (P) values. The top ranked 32 SNPs were subsequently genotyped using MassARRAY iPLEX(™) and TaqMan technologies to investigate association of these polymorphisms with nephropathy in individuals with type 1 diabetes. The top ranked nsSNP, rs1543547 (P = 10(-5)), is located in RAET1L, a major histocompatibility class I-related gene at 6q25.1. Of particular interest, multiple nsSNPs within the top ranked (0.2%) SNPs are within several plausible candidate genes for nephropathy on 3q21.3 and 6p21.3.
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