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Ogino S et al. eAppendix 1. Page 1
eAppendix 1
Although following references are not included in the main text due to limited space, those can
provide useful information for interested readers. We provide references along with
accompanying explanations.
Epidemiology as core and universal health science
When rigorously conducted, epidemiologic research (including clinical research) can produce
new knowledge, and advance medicine and public health.1-4
Epidemiologic research typically requires efforts to carefully select subjects from a larger
population, compile information on exposures, health and diseases, collect biospecimens, and
build a large database infrastructure.5,6
It is increasingly feasible to apply advanced omics technologies to those large population-based
disease datasets.7,8
Contemporary epidemiology has been transforming to become more integrated fields of multiple
disciplines, along with advances in biomedical sciences.9-11
Recent evolution of molecular pathological epidemiology (MPE)
Analyses of tumor molecular pathology in epidemiologic research began in late 1980s and
1990s,12-21 and the early 2000s, under the umbrella term of "molecular epidemiology".21,22
MPE research has linked cigarette smoking to epigenetic changes such as DNA methylation,23-25
and linked MGMT promoter polymorphism (rs16906252) to MGMT promoter methylation and
epigenetic silencing.26-31
Epidemiologic studies have shown that an effect estimate for their association is typically not
strong (with a relative risk of approximately 1.2).32,33
MPE studies have shown that smoking is a risk factor for colorectal cancer subtype named
microsatellite instability (MSI) or CpG island methylator phenotype (CIMP)-high, with a relative
risk of approximately 2.23-25,34-38
However, accumulating evidence from MPE studies indicates that smoking is a risk factor for
MSI-high subtype of colorectal cancer,23-25,34-37 while obesity is a risk factor for non-MSI-high
subtype of colorectal cancer.39-42 Therefore, while under the conventional epidemiologic
paradigm, smoking and obesity are risk factors for the same disease (colorectal cancer), under
the new MPE paradigm, smoking and obesity are risk factors for different disease subtypes.
The exposome represents the totality of exposures.43,44
Ogino S et al. eAppendix 1. Page 2
The GWAS-MPE approach can be used to examine possible biological implications of candidate
cancer susceptibility polymorphisms.45-50
Challenges in molecular pathological epidemiology (MPE)
The STROBE (Strengthening the Reporting of Observational Studies in Epidemiology) guideline
was established in 2007,51,52 and the “STROBE-ME (molecular epidemiology)” guideline in
2011.53,54
Pioneering efforts to develop new statistical methodologies for analyses of disease heterogeneity,
essentially reinforcing the MPE paradigm, have been underway.55-63
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