Exploiting gene‐environment independence in haplotype‐based inferences for population‐based case‐control studies with complex sampling

2019 ◽  
Vol 39 (1) ◽  
pp. 57-69
Author(s):  
Lingxiao Wang ◽  
Daoying Lin ◽  
Yan Li
Keyword(s):  
Population Based ◽  
Case Control ◽  
Case Control Studies ◽  
Complex Sampling ◽  
Gene Environment

scholarly journals Population-Based Estimates of the Age-Specific Cumulative Risk of Breast Cancer for Pathogenic Variants in CHEK2: Findings from the Australian Breast Cancer Family Registry

Cancers ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 1378
Author(s):  
Tú Nguyen-Dumont ◽  
James G. Dowty ◽  
Jason A. Steen ◽  
Anne-Laure Renault ◽  
Fleur Hammet ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cumulative Risk ◽  
Population Based ◽  
Case Control ◽  
Cancer Information ◽  
Case Control Studies ◽  
Breast Cancer Family ◽  
Pathogenic Variants ◽  
Increased Risk ◽  
Control Family

Case-control studies of breast cancer have consistently shown that pathogenic variants in CHEK2 are associated with about a 3-fold increased risk of breast cancer. Information about the recurrent protein-truncating variant CHEK2 c.1100delC dominates this estimate. There have been no formal estimates of age-specific cumulative risk of breast cancer for all CHEK2 pathogenic (including likely pathogenic) variants combined. We conducted a population-based case-control-family study of pathogenic CHEK2 variants (26 families, 1071 relatives) and estimated the age-specific cumulative risk of breast cancer using segregation analysis. The estimated hazard ratio for carriers of pathogenic CHEK2 variants (combined) was 4.9 (95% CI 2.5–9.5) relative to non-carriers. The HR for carriers of the CHEK2 c.1100delC variant was estimated to be 3.5 (95% CI 1.02–11.6) and the HR for carriers of all other CHEK2 variants combined was estimated to be 5.7 (95% CI 2.5–12.9). The age-specific cumulative risk of breast cancer was estimated to be 18% (95% CI 11–30%) and 33% (95% CI 21–48%) to age 60 and 80 years, respectively. These findings provide important information for the clinical management of breast cancer risk for women carrying pathogenic variants in CHEK2.

scholarly journals Impact of the introduction of pneumococcal conjugate vaccination on pneumonia in The Gambia: population-based surveillance and case-control studies

2017 ◽  
Vol 17 (9) ◽  
pp. 965-973 ◽  
Author(s):  
Grant A Mackenzie ◽  
Philip C Hill ◽  
Shah M Sahito ◽  
David J Jeffries ◽  
Ilias Hossain ◽  
...  
Keyword(s):  
Population Based ◽  
Case Control ◽  
The Gambia ◽  
Case Control Studies ◽  
Conjugate Vaccination

scholarly journals Case-Control Studies of Gene-Environment Interaction: Bayesian Design and Analysis

Biometrics ◽  
2009 ◽  
Vol 66 (3) ◽  
pp. 934-948 ◽  
Author(s):  
Bhramar Mukherjee ◽  
Jaeil Ahn ◽  
Stephen B. Gruber ◽  
Malay Ghosh ◽  
Nilanjan Chatterjee
Keyword(s):  
Case Control ◽  
Environment Interaction ◽  
Case Control Studies ◽  
Bayesian Design ◽  
Gene Environment Interaction ◽  
Gene Environment

scholarly journals The home environment and asthma symptoms in childhood: two population based case-control studies 13 years apart

Thorax ◽  
1997 ◽  
Vol 52 (7) ◽  
pp. 618-624 ◽  
Author(s):  
B. K. Butland ◽  
D. P. Strachan ◽  
H. R. Anderson
Keyword(s):  
Home Environment ◽  
Population Based ◽  
Case Control ◽  
Case Control Studies ◽  
Asthma Symptoms
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