Supplementary information 1: Electronic Literature Search, Tables and Reference List
Inclusion and exclusion criteria
 Empirical papers that assessed the association between genes and/or biomolecular
markers and quality of life domains.
 Quality of life domains included are: physical functioning, fatigue, pain, emotional
functioning, cognitive functioning, social functioning and overall quality of life.
 References for the domains on fatigue, pain, emotional functioning and social functioning
were based on previously published reviews by the GeneQol Consortium and further
supplemented with up-to-date publications within the last 5 years (Nov 2007-2012).
 References for physical functioning is not limited to year of publication as currently there is
no GeneQol review on this domain
 Only publications on human subjects are included.
 Only English publications are included.
 References are also identified from relevant chapters in: Cancer Symptom Science. 2011
edited by C.S. Cleeland, M. J. Fisch and A.J. Dunn. Cambridge University Press:
Cambridge.
Search machine
PubMed – accessed in Nov 2012
Search terms/details (including number of hits)
 Fatigue
o "Fatigue"[Mesh] AND "Genes"[Mesh] AND ("2007/11/12"[PDat] : "2012/11/09"[PDat]
AND "humans"[MeSH Terms]) – 11 hits
o "Fatigue"[Mesh] AND ("genetics"[Subheading] OR "Genetics, Behavioral"[Mesh])
AND ("2007/11/12"[PDat] : "2012/11/09"[PDat] AND "humans"[MeSH Terms]) – 103
hits
 Pain
o "Pain"[Mesh] AND "Genes"[Mesh] AND ("2007/11/12"[PDat] : "2012/11/09"[PDat]
AND "humans"[MeSH Terms] AND English[lang]) - 115 hits
o "Pain"[Mesh] AND ("genetics"[Subheading] OR "Genetics, Behavioral"[Mesh]) AND
("2007/11/12"[PDat] : "2012/11/09"[PDat] AND "humans"[MeSH Terms]) – 1408 hits
 Emotional functioning
o "Depression"[Mesh] AND "Genes"[Mesh] AND ("2007/11/11"[PDat] :
"2012/11/08"[PDat] AND "humans"[MeSH Terms]) – 117 hits
o "Depression"[Mesh] AND ("genetics"[Subheading] OR "Genetics, Behavioral"[Mesh])
AND ("2007/11/11"[PDat] : "2012/11/08"[PDat] AND "humans"[MeSH Terms]) – 730
hits
o "Anxiety"[Mesh] AND "Genes"[Mesh] AND ("2007/11/11"[PDat] : "2012/11/08"[PDat]
AND "humans"[MeSH Terms]) – 62 hits
o "Anxiety"[Mesh] AND ("genetics"[Subheading] OR "Genetics, Behavioral"[Mesh])
AND ("2007/11/12"[PDat] : "2012/11/09"[PDat] AND "humans"[MeSH Terms]) – 411
hits
o "Happiness"[Mesh] AND "Genes"[Mesh] AND ("2007/11/12"[PDat] :
"2012/11/09"[PDat] AND "humans"[MeSH Terms]) – 2 hits
o "Happiness"[Mesh] AND ("genetics"[Subheading] OR "Genetics, Behavioral"[Mesh])
AND ("2007/11/12"[PDat] : "2012/11/09"[PDat] AND "humans"[MeSH Terms]) – 18
hits
o "Loneliness"[Mesh] AND ("genetics"[Subheading] OR "Genetics, Behavioral"[Mesh])
– 13 hits
o ("Loneliness"[Mesh]) AND "Genes"[Mesh] – 4 hits
 Social functioning
o
o
("social adjustment"[MeSH Terms] OR ("social"[All Fields] AND "adjustment"[All
Fields]) OR "social adjustment"[All Fields] OR ("social"[All Fields] AND
"functioning"[All Fields]) OR "social functioning"[All Fields]) AND "Genes"[Mesh] AND
("2007/11/12"[PDat] : "2012/11/09"[PDat] AND "humans"[MeSH Terms]) – 27 hits
("social adjustment"[MeSH Terms] OR ("social"[All Fields] AND "adjustment"[All
Fields]) OR "social adjustment"[All Fields] OR ("social"[All Fields] AND
"functioning"[All Fields]) OR "social functioning"[All Fields]) AND
"genetics"[Subheading] AND "Genetics, Behavioral"[Mesh] AND ("2007/11/12"[PDat]
: "2012/11/09"[PDat] AND "humans"[MeSH Terms]) – 3 hits
Information in Tables
 Genes and biomolecular markers are included in the Table if there is at least 1 reference
(either empirical paper or meta-analysis) showing significant results of its association with
the respective quality of life domain.
 Because of the large number of hits on depression and pain, up-to-date articles included
into the Table are limited to the last 2 years (2010-2012) at this stage. Inclusion of earlier
publications will follow.
 The primary source for identifying the biological pathways was the KEGG (Kyoto
Encyclopedia for Genes and Genomes) website (http://www.genome.jp/kegg/) ,
supplemented by Genecards website (http://www.genecards.org/)
 Alternative names for genes are presented in brackets, e.g. 5HTT (SLC6A4)
 The ‘?’ in the Table represents information that is unclear (e.g. unable to identify the
relevant biological pathway for a particular gene)
 ‘-NR-‘ means that the information is not reported (e.g. only the gene but not the
biomolecular marker is reported or vice versa).
 Descriptions of included publications are provided in the Reference list (Supplementary
Information 2 and 3) under the individual references. Categories included are:
o Type of paper – by default all are research papers. Other papers are reviews
(include systematic and narrative reviews), meta-analyses or research letter to
Editor and are indicated in the table.
o Sample population – population-based, patient-population based (e.g.
selected from population-based cancer registries), patient sample (i.e., only
including patients) or healthy individuals.
o Study type – candidate gene study, GWAS or studies that collected
biomolecular specimen but not genetic data. Default specimen collected is
blood. If other material was used (e.g., tissue) it is noted in the table.
o Study design – ‘No replication’ is default. Studies that included replication
analyses are defined as either replication with an external cohort or replication
with split sample (whereby the study sample is divided to include the case and
replication samples). Included also is a paper describing a randomized control
trial.