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. Author manuscript; available in PMC: 2010 Jun 7.
Published in final edited form as: Nat Genet. 2008 Dec 7;41(1):56–65. doi: 10.1038/ng.291

Table 1. Study design and participant characteristics.

Design Stage 1 GWASs Stage 2 replication studies
Study FHSa LOLIPOP SUVIMAX InCHIANTI DGI FUSION SardiNIA MDC-CCb FINRISK97b FUSION Stage 2b METSIMb ISISb
n 7,423 1,050 1,551 1,132 2,626 1,874 4,184 5,519 7,940 2,224 3,764 2,497
Ascertainment
scheme		 Community-based
cohort		 Community-based
cohort		 Community-based
cohort		 Community-based
cohort		 Cases, type 2 diabetes;
controls,
diabetes free		 Cases, type 2 diabetes;
controls,
diabetes free		 Community-based
cohort		 Community-based
cohort		 Population-based
cohort		 Cases, type 2 diabetes;
controls,
diabetes free		 Community-based
cohort		 Cases, myocardial infarction;
controls,
myocardial infarction free
Genotyping platform Affymetrix 5.0, supplemental 50K Affymetrix 5.0c Illumina 317K Illumina 550K Affymetrix 5.0 Illumina 317K Affymetrix 5.0 Sequenom, TaqMan Sequenom Sequenom Sequenom TaqMan
No. directly genotyped SNPs 432,815 374,773 294,882 484,115 398,878 304,581 356,359 66 60 52 52 45
No. imputed SNPs 2,435,180 2,451,793 2,490,255 2,461,089 2,361,966 2,477,862 2,252,558 - - - - -
Country of origind US UK France Italy Sweden, Finland Finland Italy Sweden Finland Finland Finland UK
Fasting lipids Yes Yes Yes Yes Yes Yese Yes Yes Yes Yes Yes Nof
Mean age, years 38 ± 10 52 ± 10 50 ± 6 68 ± 16 62 ± 11 61 ± 10 43 ± 17 58 ± 6 50 ± 13 59 ± 8 59 ± 6 50 ± 9
Female gender, % 53 18 62 56 51 45 56 59 50 40 0 38
Total cholesterol,
mg/dl		 193 ± 37 215 ± 40 221 ± 31 213 ± 40 227 ± 44 223 ± 41 208 ± 42 239 ± 42 214 ± 21 226 ± 45 215 ± 37 225 ± 45
LDL cholesterol,
mg/dl		 119 ± 34 135 ± 34 137 ± 32 132 ± 35 151 ± 40 142 ± 36 127 ± 36 161 ± 38 135 ± 36 131 ± 35 138 ± 32 137 ± 37
HDL cholesterol,
mg/dl		 53 ± 15 53 ± 14 64 ± 15 56 ± 15 50 ± 13 53 ± 16 64 ± 15 53 ± 14 54 ± 14 55 ± 16 58 ± 16 47 ± 13
Triglycerides,
mg/dl		 107 ± 91 143 ± 119 91 ± 39 123 ± 75 146 ± 104 145 ± 91 86 ± 60 122 ± 71 133 ± 93 137 ± 80 127 ± 99 162 ± 115g
Body mass index, kg/m2 26.0 ± 5.0 27.6 ± 5.1 23.6 ± 3.2 27.1 ± 4.2 27.6 ± 4.2 28.3 ± 4.5 25.0 ± 4.7 25.8 ± 3.9 26.7 ± 4.5 28.5 ± 5.0 27.0 ± 4.1 25.6 ± 4.1
Individuals with diabetes mellitus, % 2.4 7.9 0.8 7.8 49.3 41.3 2.3 8.4 3.5 43.5 11.6 3.6

Values with ‘±’ are means ± s.d. To convert values for cholesterol to mM, multiply by 0.02586. To convert values for triglycerides to mM, multiply by 0.01129. Body mass index is weight (kg) divided by square of height (m).

a

Participant characteristics from baseline examination of second and third generations (1971-1975 and 2001-2005, respectively) are provided.

b

Total number of individuals with phenotype and at least one successful genotype is presented. Exact number of individuals for each SNP varied from the number presented because of exclusions and genotyping failures.

c

627 individuals were genotyped using Affymetrix 5.0, and 423 using a customized genome-wide array designed and genotyped by Perlegen Sciences.

d

All individuals studied were of self-reported European ancestry.

e

In FINRISK97, individuals were instructed to fast for at least 4 h, with mean fasting time of 6 ± 4 h.

f

Blood samples were nonfasting. For cases, LDL and HDL cholesterol were directly measured and analyzed; triglycerides were not analyzed. For controls free of myocardial infarction, all three lipid phenotypes were directly measured on nonfasting samples.

g

Triglyceride values are based only on controls free of myocardial infarction.