|
|
Reference
Complete the bibliographic reference for the article according to AJE format. |
Ziv E, Cauley J, Morin PA et al. Association between the T29->C polymorphism in the transforming growth factor beta 1 gene and breast cancer among elderly white women. JAMA 2001;285:2859-2863
|
Category of HuGE information
Specify the types of information (from the list below) available in the article:
- Prevalence of gene variant
- Gene-disease association
- Gene-environment interaction
- Gene-gene interaction
- Genetic test evaluation/monitoring
|
- Prevalence of gene variant
- Gene-disease association
|
Study hypotheses or purpose
The authors study hypotheses or main purpose for conducting the study
|
Hypothesis: A polymorphism in the TGF beta 1 gene is associated with breast cancer in women aged 65 or older. |
Gene(s)
Identification of the following:
- Gene name
- Chromosome location
- Gene product/function
- Alleles
- OMIM #
|
- Gene: TGFB1
- Chromosome location: 19q13.1
- Gene product/function: signaling protein involved in a wide range of cellular processes including suppression of cell proliferation, suppression of inflammatory immune responses and stimulation of angiogenesis
- Alleles: LEU10PRO
- OMIM #: 190180
|
Environmental factor(s)
Identification of the major environmental factors studied (infectious, chemical, physical, nutritional, and behavioral)
|
N/A |
Health outcome(s)
Identification of the major health outcome(s) studied
|
Breast Cancer |
Study design
Specification of the type of study design(s)
- Case-control
- Cohort
- Cross-sectional
- Descriptive or case series
- Clinical trial
- Population screening
|
Prospective cohort study |
Case definition
For study designs 1, 4, and 5, define the following if available:
- Disease case definition
- Exclusion criteria
- Gender
- Race/ethnicity
- Age
- Time period
- Geographic location
- Number of participants
|
N/A
|
Control definition
For study design 1, define the following if available:
- Control selection criteria
- Matching variables
- Exclusion criteria
- Gender
- Race/ethnicity
- Age
- Time period
- Geographic location
- Number of participants
|
N/A
|
Cohort definition
For study designs 2, 3, and 6, define the following if available:
- Cohort selection criteria
- Exclusion criteria
- Gender
- Race/ethnicity
- Age
- Time period
- Geographic location
- Number of participants
|
- Cohort selection criteria: white, community-dwelling women aged 65 or older at time of recruitment, who were recruited at 4 US centers between 1986 and 1988.
- Exclusion criteria: Did not return for second clinic visit, insufficient clinical information, did not consent, no buffy coat sample, history of breast cancer before study onset
- Gender: female
- Age: at least 65 at time of recruitment (median age 70 at time of study)
- Time period: Mean follow-up of 9.3 years (SD 1.9)
- Geographic location: US (regions not specified)
- Number of participants: 3075 final
|
Assessment of environment factors
For studies that include gene-environment interactions, define the following, if available:
- Environmental factor
- Exposure assessment
- Exposure definition
- Number of participants with exposure data (% of total eligible)
|
- Environmental factor 1:
- Exposure assessment:
- Exposure definition:
- Participants with exposure data:
Exposure 2:
|
Genotyping
Specify the following:
- Gene
- DNA source
- Methodology
- Number of participants genotyped (% of total eligible)
|
- Gene: TGFB1
- DNA source: Buffy coat samples
- Methodology: 5' exonuclease assay to detect SNPs
- Participants genotyped: 3112 (out of 6795 from whom samples were collected before genotyping consent was obtained or exclusion criteria applied)
|
Results
Describe the major results under each of the following HuGE categories. Include tables when data are provided:
- Prevalence of gene variant
- Gene-disease association
- Gene-environment interaction
- Gene-gene interaction
- Genetic test evaluation/monitoring
|
1. Prevalence of gene variant:
Genotype |
Number (%) |
No. with breast cancer |
C/C
|
458 (14.9%)
|
10 (6.85%)
|
T/C |
1493 (48.6%) |
80 (54.8%) |
T/T |
1124 (36.7%) |
56 (38.3%) |
2. Gene-disease association (measured from Figure in paper)
Genotype |
Cumulative probability of breast cancer after 10 years |
C/C |
0.025 |
T/C |
0.055 |
T/T |
0.056 |
Genotype |
Hazard ratio relative to T/T |
C/C
|
0.43 (CI 0.22-0.84; P=0.01) |
T/C |
1.06 (CI 0.75-1.49; P=0.74) |
|
Conclusion
State the author's overall conclusions from the study
|
The authors claim that the C/C genotype at the TGFB1 locus is associated with a decreased risk of breast cancer in white women older than 65. |
Comments
Provide additional insight, including methodologic issues and/or concerns about the study |
N/A |