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Table 6 Risk ratios (Odds Ratio (OR) or Hazards Ratio (HR)) extracted from PRS sources

From: Implementation of individualised polygenic risk score analysis: a test case of a family of four

Phenotype

Father Risk (95% CI)

Mother Risk (95% CI)

Daughter Risk (95% CI)

Son Risk (95% CI)

Risk Type

Thresholds

Basal cell carcinoma

      

Breast cancer

 

2.07 (1.97–2.19)

  

OR

Top 20% vs Rest

Chronic lymph leukaemia

      

Colorectal cancer

2.69 (2.34–3.08)

2.69 (2.34–3.08)

2.69 (2.34–3.08)

2.69 (2.34–3.08)

OR

Top 25% vs Rest

Glaucoma

3.61 (3.11–4.20)

 

2.94 (2.60–3.34)

2.94 (2.60–3.34)

OR

Top 20% vs Rest Top 50% vs Rest

Glioma

      

Melanoma

      

Testicular Cancer

 

3.69 (2.2–6.18)

3.69 (2.2–6.18)

 

OR

Top 10% vs Rest

Thyroid Cancer

   

3.48 (2.16–5.62)

OR

Top 10% vs Rest

Prostate Cancer

 

2.29 (1.75–3.00)

2.29 (1.75–3.00)

 

OR

 > 1SD

Ischaemic stroke

 

1.26 (1.22–1.31)

  

HR

 > 1SD

Atrial fibrillation

      

Coronary artery disease

 

3.34 (3.12–3.58)

2.55 (2.43–2.67)

2.55 (2.43–2.67)

OR

Top 20% vs Rest Top 5% vs Rest

Type 2 diabetes

      

Inflammatory bowel disease

      
  1. ORs and confidence intervals are dependent on the individual’s position in the background population and are translated into risk metrics based on boundaries of bins provided in the relevant study, rather than being a standalone assessment of the individual’s risk. Blank cells correspond to phenotypes where an individual’s EUR background population percentile is below reported thresholds in PRS sources. We highlight in bold risk ratios (OR or HR) we can express and also include those that cannot be expressed by the individual (default font; e.g., Testicular Cancer and Prostate Cancer PRS in females). OR or HR appear with their 95% confidence intervals (in parenthesis) and, in a separate column, the percentile thresholds from which risk ratios were extracted
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BMC Medical Genomics

ISSN: 1755-8794

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