disease), diarrhoea, vomiting, clinical dehydration, .... A/T and C/G SNPs were additionally excluded due to strand assignment issues, along .... 2.41+/-0.01à¸à¸.
Supplementary Materials Index
Page
Supplementary Methods Clinical recruitment
3
Phenotypic studies of blood and urine samples
4
Measurement of fractional uric acid clearance
6
Plasma ADH measurement
6
Measurement of urinary PGE2 and PGE2 Metabolite (PGE2M) concentration
6
Genetic studies
7
Genome Wide Association study
7
Resequencing of GWAS candidate regions
7
Kidney immunofluorescence
9
Supplementary results Phenotype of TIH cases and controls
10
Results of genetic studies
14
Genome Wide Association Study of cohort 1 TIH cases and Controls from the 1958 birth cohort
14
Interrogation of GWAS candidate regions
21
Human kidney immunofluorescence- PGT kidney expression
26-31
Urinary PGE2 and PGE2 Metabolite (PGE2M) concentration
30-31
1
Supplementary Tables Supplementary Table S1
5
Supplementary Table S2
11
Supplementary Table S3
12
Supplementary Table S4
13
Supplementary Table S5
15
Supplementary Table S6
17
Supplementary Table S7
21
Supplementary Table S8
22
Supplementary Table S9
24
Supplementary table 10
25
Supplementary table 11
26
Supplementary Figures Supplementary Figure S1
14
Supplementary Figure S2
16
Supplementary Figure S3
18
Supplementary Figure S4
18-20
Supplementary Figure S5
24
Supplementary Figure S6
27-31
Supplementary Figure S7
32 2
Supplementary methods Clinical recruitment Cohort 1; This study was conducted in line with the standards of ICH/Good Clinical Practise sections 8.2.8 and was given approval by the Queen’s Medical Centre Ethics committee (study approval reference GM030208). Between July 2002 and November 2003 a daily search of the biochemistry data base of all patients admitted to the department of internal medicine at Nottingham University Hospitals NHS Trust, UK was undertaken to identify those patients with serum sodium 5% missing genotype data were excluded. SNPs were excluded if they had more than 5% data missing, had a minor allele frequency (MAF) less than 1%, or if they significantly deviated from Hardy Weinberg Equilibrium (HWE) at the P=0.001 level. A/T and C/G SNPs were additionally excluded due to strand assignment issues, along with SNPs which were identified as having differential missingness in cases and controls (number of missing genotypes significantly differed in cases and controls at the P=0.01 level). Association testing was carried out using Plink v 1.07, using a logistic regression model, with adjustment for 10 principal components and assuming an additive genetic model. Postassociation testing, cluster plots were generated for all SNPs found to be significant at the P 60.0, MQ < 40.0, MQRankSum < -12.5, QD < 2.0, ReadPosRankSum < -8.0 Indels: DP
