Genes, Exomes, Genomes, Copy Number: What is Their Future in Pediatric Renal Disease
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Genes, Exomes, Genomes, Copy Number: What is Their Future in Pediatric Renal Disease Matthew G. Sampson • Harald Ju¨ppner
Published online: 22 December 2012 Springer Science + Business Media New York 2012
Abstract The influence of genetic variation on the pathogenesis of pediatric kidney disease extends from the earliest stages of kidney development in utero to conditions arising throughout a child’s life. Major advances in genomic technologies, computing power, and bioinformatics analyses have resulted in the accelerated discovery of novel genes and risk loci associated with both inherited and sporadic forms of pediatric kidney disease. In this review, we will highlight studies over the past year that used diverse approaches to discover novel genes and loci associated with pediatric renal disease. We will also discuss reports that investigate the association with disease of previously discovered risk variants in novel populations, different phenotypes, or in model systems. Finally, we will discuss how we believe genomic inquiry will evolve in pediatric kidney disease in the future. Together, these studies illustrate that almost every child with a kidney condition could participate in some form of genomic investigation. Keywords Pediatric nephrology Genes Next-generation sequencing Exome Genomics Genome Transcriptome CNV GWAS
M. G. Sampson (&) Division of Pediatric Nephrology, Department of Pediatrics and Communicable Disease, University of Michigan School of Medicine, West Medical Center Drive, A510D MSRB1, Ann Arbor, MI 48109, USA e-mail: [email protected] H. Ju¨ppner Pediatric Nephrology and Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, 50 Blossom Street, Thier 10, Boston, MA 02114, USA
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Single nucleotide variant Nephrotic syndrome Chronic kidney disease Family studies Phenotyping
Introduction The influence of genetic variation on the pathogenesis of pediatric kidney disease extends from the earliest stages of kidney development in utero to conditions that arise throughout a child’s life. Most successful gene discovery efforts have come from studying rare, large kindreds with multiply affected members [1–4], groups of children who share a similar renal phenotype [5], or children with a chromosomal abnormality that have multiple anomalies, including those of the kidney [6]. Using techniques such as linkage analysis, positional cloning, and karyotype analysis, the single gene or chromosomal region for innumerable kidney conditions has been defined, ranging from autosomal recessive polycystic kidney disease [7] to branchiooto-renal syndrome [5] to Wolf-Hirschorn syndrome [8]. Major advances in genomic technologies and increases in computing power have resulted in the ability to generate, process, and store genotype and/or sequence data on a genome-wide level. There has been a parallel development of sophisticated analytical approaches to incorporate genomics data into the study of human disease, led by biostatis
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