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Table 1 Overview of the number and type of genetic data used for prediction

From: Improved prediction of complex diseases by common genetic markers: state of the art and further perspectives

Predicted phenotype

Study

Type of genetic variants used

Breast cancer

Mealiffe et al. (2010)

7 GWAS-SNPs with independent replication

Wacholder et al. (2010)

10 GWAS-SNPs

Dite et al. (2013)

7 GWAS-SNPs with independent replication

Darabi et al. (2012)

18 GWAS-SNPs

Vachon et al. (2015)

76 GWAS-SNPs

Prostate cancer

Zheng et al. (2008)

5 SNPs from candidate association studies

Nam et al. (2009)

19 SNPs from candidate association studies

Salinas et al. (2009)

5 SNPs from GWAS/candidate studies showing independent cumulative association

Aly et al. (2011)

35 GWAS-SNPs with independent replication

Johansson et al. (2012)

33 GWAS-SNPS

Kader et al. (2012)

33 GWAS-SNPs with independent replication

Klein et al. (2012)

49 SNPs associated with prostate cancer or PS/1 SNP associated with breast cancer

Lindström et al. (2012) (five age groups)

25 GWAS-SNPs

Helfand et al. (2013)

4 SNPs from candidate association studies replicated in GWAS

Butoescu et al. (2014)

9 GWAS-SNPSs

Esophageal squamous cell carcinoma (ESCC)

Chang et al. (2013)

25 GWAS-SNPs

Melanoma

Fang et al. (2013)

11 GWAS-SNPs

Cardiovascular disease (CVD) related events

Humphries et al. (2007)

4 SNPs and 7 SNPs with interaction terms from candidate association studies

Morrison et al. (2007)

10 SNPs for whites and 11 SNPs for blacks from candidate association studies

Kathiresan et al. (2008)

9 GWAS-SNPs (associated with LDL and HDL)

Paynter et al. (2009)

1 SNP from a candidate association studies with independent replication

Davies et al. (2010)

13 GWAS-SNPs

Paynter et al. (2010)

101 GWAS-SNPs associated with CVD or an intermediate phenotype and 12 GWAS-SNPs associated with CVD but no intermediate phenotype

Ripatti et al. (2010)

13 GWAS-SNPs

Brautbar et al. (2012)

13 SNPs associated with CVD but no intermediate phenotype from GWAS/candidate studies with independent replication

Hernesniemi et al. (2012)

24 GWAS-SNPs (associated with CAD)

Hughes et al. (2012)

11 SNPs and 2 haplotype from GWAS with independent replication and 15 SNPs from GWAS with independent replication

Lluis-Ganella et al. (2012) (two cohorts)

8 GWAS-SNPs associated with CVD but not with intermediate phenotypes

Bolton et al. (2013)

27 SNPs from meta-analysis of GWAS-SNPs

Ganna et al. (2013)

395 SNPs (associated with CHD and intermediate phenotypes) from GWAS and 46 SNPs (directly associated with CHD) from GWAS

Isaacs et al. (2013)

95 SNPs from meta-GWAS on TC, LDL-C, HDL-C, and TG

Tikkanen et al. (2013)

28 SNPs from GWAS

Ibrahim-Verbaas et al. (2014)

324 GWAS-SNPs (associated with all stroke risk domains)

 

Beaney et al. (2015)

13 GWAS-SNPs from CARDIoGRAMplusC4D and 19 SNPs from GWAS and candidate studies

de Vries et al. (2015)

49 genome-wide significant SNPs and 103 SNPs at FDR <10 %

Atrial fibrillation

Everett et al. (2013)

12 GWAS-SNPs

Tada et al. (2014)

12 GWAS-SNPs

Venous thrombosis

de Haan et al. (2012)

5 SNPs from GWAS/candidate studies with independent replication

Bruzelius et al. (2014)

7 SNPs from GWAS and candidate association studies

Type 2 diabetes

Balkau et al. (2008)

2 SNPs from candidate association studies

Lyssenko et al. (2008)

11 GWAS-SNPs

Meigs et al. (2008)

18 GWAS-SNPs

van Hoek et al. (2008)

18 GWAS-SNPs with independent replication

Lin et al. (2009)

15 GWAS-SNPs

Schulze et al. (2009)

20 GWAS-SNPs

Talmud et al. (2010)

20 GWAS-SNPs with independent replication

Wang et al. (2010)

19 SNPs from candidate studies with independent replication

de Miguel-Yanes et al. (2011)

40 GWAS-SNPs

Vassy et al. (2012a)

38 GWAS-SNPs

Vassy et al. (2012b)

38 GWAS-SNPs

Mühlenbruch et al. (2013)

42 GWAS-SNPs

Tam et al. (2013)

14 GWAS-SNPs

Vassy et al. (2014)

62 GWAS-SNPs

Walford et al. (2014)

62 GWAS-SNPs

Parkinson disease

Hall et al. (2013)

4 GWAS-SNPs

  1. “GWAS-SNPs” were identified in previous genome-wide association studies. In contrast, “SNPs” were derived from previous locus-wide association studies
  2. “SNPs with independent replication” are defined as SNPs identified in a previous study, replicated in another previous association study, and finally used in the prediction study. Otherwise, SNPs resulted from at least one independent discovery study