1. Genetic Investigations of Kidney Disease: Core Curriculum 2013
Yong Li, MD, Anna Köttgen, MD, MPH 
American Journal of Kidney Diseases 
Volume 61, Issue 5, Pages (May 2013)
DOI: /j.ajkd
Copyright © 2013 National Kidney Foundation, Inc. Terms and Conditions

2. Figure 1
Typical graphical presentation of findings from genome-wide linkage studies. A linked genomic interval on chromosome 2q24.3 was identified in a study of 3 families with familial hemiplegic migraine (FHM). The y axis shows the LOD (logarithm of odds) score, the x axis shows the genomic position and the microsatellite markers with the peak LOD score mapping between markers D2S2330 and D2S399. Among a large number of genes in the identified 8.8-Mb interval, the 6 candidate ion channel genes are marked in the figure and the causal mutation was finally identified in SCN1A.
Reproduced from Dichgans et al (Lancet. 2005;366: ), with permission of Elsevier.
American Journal of Kidney Diseases  , DOI: ( /j.ajkd )
Copyright © 2013 National Kidney Foundation, Inc. Terms and Conditions

3. Figure 2
Principle of genotype-phenotype association in genome-wide association studies. Abbreviations: GFR, glomerular filtration rate; LD, linkage disequilibrium; SNP, single-nucleotide polymorphism.
American Journal of Kidney Diseases  , DOI: ( /j.ajkd )
Copyright © 2013 National Kidney Foundation, Inc. Terms and Conditions

4. Figure 3
Typical graphical presentation of findings from genome-wide association studies (GWAS). For both panels, the y axis shows the –log10(P values), and the x axis shows the chromosomal location. The closest gene in each region is indicated. (Upper panel) Manhattan plot from a GWAS of glomerular filtration rate estimated from serum creatinine level. The horizontal dotted line indicates the genome-wide significance threshold at 5×10−8. (Lower panel) The regional association plot provides a zoomed-in view of a region on chromosome 13 that contains significantly associated single-nucleotide polymorphisms (SNPs). The pairwise correlation between the SNP with the lowest P value (rs626277) and all other SNPs is color coded based on r2, a measure of linkage disequilibrium. Abbreviations: cM, centi-Morgan; hg, human genome; kb, kilobases; Mb, megabases.
Reproduced from Köttgen et al (Nat Genet. 2010;42(5): ) with permission of Nature Publishing Group.
American Journal of Kidney Diseases  , DOI: ( /j.ajkd )
Copyright © 2013 National Kidney Foundation, Inc. Terms and Conditions