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Human Genome Epidemiology (2nd ed.): Building the evidence for using genetic information to improve health and prevent disease

“The findings and conclusions in this book are those of the author(s) and do not
necessarily represent the views of the funding agency.”

 

These chapters were published with modifications by Oxford University Press (2010)

 


Chapter 13 - Colorectal cancer

Harry Campbell, Steven Hawken, Evropi Theodoratou, Alex Demarsh, Kimberley Hutchings, Candice Y. Johnson, Lindsey Masson, Linda Sharp, Valerie Tait, and Julian Little



Table 13-1
Summary of studies by region and date of publication of GSTT1 null genotype and colorectal cancer

Authors Date Country/
Ethnicity
Gender Description of Cases Description of Controls Number
of Cases/
Controls
% of
Controls
GSTT1 null
OR (95% CI)
Abdel-Rahman et al. (22)
1999
Egypt
M/F
Newly diagnosed patients from three cancer hospitals Healthy controls, friends of other cancer patients from the same centers, matched on age
59/51
41.2
Crude OR: 0.85 (0.37, 1.97)
Lee et al. (23)
1995
Singapore
Surgical patients Patients with no history of neoplasms from the clinical chemistry department of a local hospital
300/183
49
Not reported
Yoshioka et al. (24)
1999
Japan
Consecutive histologically confirmed Hospital based (routine physical exam)
106/100
41
Crude OR: 1.33 (0.77, 2.32)
Zhu et al. (25)
2002
China
Sporadic colorectal adenocarcinoma patients Healthy controls
104/101
47.5
1.63 (0.94, 2.84)
Chen et al. (26)
2004
China
M/F
   
125/339
20.4
0.88 (0.52, 1.49)
Yeh et al. (27)
2005
China
M/F
Histologically confirmed new cases Hospital based (presenting for routine checkup)
723/733
49.1
1.25 (1.02, 1.53)
Chenevix- Trench et al. (28)
1995
Australia
Patients with colorectal adenocarcinoma Source not stated (n = 94) and cancer free geriatric patients (n = 54)
132/148
19

9
0.7 (0.3, 1.4)
1.5 (0.6, 4.3)
Butler et al. (29)
2001
Australia white
M/F
Queen Elizabeth Hospital, white adults Hospital based (blood donors)
203/200
20.0
Crude OR: 2.18 (1.38, 3.43)
Zhang et al. (30)
1999
Sweden
Pathology confirmed Population based
99/109
20%
4.49 (2.42, 8.34)
Laso et al. (31)
2002
Spain
M/F
Consecutive patients undergoing surgery from the University of Barcelona Hospital Clinic, Spain Hospital based, during the same time period as case accrual
247/296
11.1
Crude OR: 1.68 (1, 2.82)
van der Hel et al. (32)
2003
Netherlands
F
Population-based screening program for early detection of breast cancer Population based
234/765
29.3
0.91 (0.65, 1.28)
Kiss et al. (33)
2004
Hungary
M/F
Histologically confirmed Hospital based cancer-free controls (inpatients and outpatients)
500/500
21.6
Crude OR: 1.29 (0.95, 1.74)
van der Logt et al. (34)
2004
Netherlands
M/F
Gastroenterology and general surgery patients Recruited from local newspaper
371/415
16.6
Crude OR: 1.2 (0.84, 1.7)
Saadat and Saadat (35)
2001
Iran
M/F
Pathologically confirmed Healthy blood donor matched to cases on age and gender
46/131
11.5
Crude OR: 1.41 (0.70, 2.88)
Ates et al. (36)
2005
Turkey
M/F
Consecutive histologically confirmed (inpatients and outpatients) Unrelated healthy controls recruited from two hospitals in Turkey
181/204
26.0
Adjusted OR: 1.64 (1.10, 2.59)
Nascimento et al. (37)
2003
Brazil
M/F
Consecutive histologically confirmed cases Blood donors from the same hospital
102/300
17.3
Crude OR: 0.95 (0.50, 1.80)
Seow et al. (38)
2002
Singapore
M/F
Incident cases identified through populationbased Singapore Cancer Registry Cancer-free participants of the Singapore Chinese Health Study (population based, prospective)
213/1194
40.2
Adjusted OR: 0.88 (0.64, 1.21)
Welfare et al. (39)
1999
U.K.
M/F
Histologically confirmed cases Community-based controls
201/187
16.9
Adjusted OR: 1.21 (0.63, 2.0)
Loktionov et al. (40)
2001
U.K.
Histologically confirmed cases Cancer/adenoma free participants of the ongoing UK Flexible Sigmoidoscopy Screening Trial
206/355
15.2
Crude OR: 1.43 (0.89, 2.28)
Sachse et al. (41)
2002
U.K.
M/F
Incident cases Healthy population-based controls with no history of previous cancer
490/593
63.7
Crude OR: 0.87 (0.67, 1.13)
Rajagopal et al. (42)
2005
U.K. white
M/F
Surgical cases with operative and histological confi rmation Hospital-based cancer-free controls
361/881
17.9
Crude OR: 1.65 (1.22, 2.24)
Little et al. (43)
2006
U.K.
M/F
Histologically confirmed cases identified from the database of the pathology laboratory Selected from the Grampian Community Health Index (list of everyone registered with a GP) matched by age and sex
264/408
17
Adjusted OR: 1.25 (0.81, 1.93) Adjusted OR: 1.23 (0.74, 2.02)
Gertig et al. (44)
1998
U.K. white
M
Cases with CRC from the prospective Physician’s Health Study White male participants not diagnosed with CRC within the prospective Physicians’ Health Study
212/221
23
0.8 (0.5, 1.2)

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Table 13-2
Summary of studies of the ALDH2 Glu487Lys polymorphism and cancers of the colon and/or rectum

Study/ Outcome Year Year Country/ Ethnicity Gender Description of Cases Description of Cases Number of Cases/Controls Lys Allele Frequency Comparison OR (95% CI)
Yin et al. (50)
2007
Japan
M/F
Consecutive surgical admissions Two-stage random sampling from hospital catchment areas 685/778 0.267 Lys/Lys vs Glu/Glu
Lys/Glu vs Glu/Glu
0.55 (0.33–0.93)
0.89 (0.71–1.13)
Matsuo (51)
2006
Japan
M/F
Aichi Cancer Centre Hospital (ACCH) Outpatients during same time period as case diagnoses 257/768 0.297 Lys/Lys vs Glu/Glu
Lys/Glu vs Glu/Glu
0.98 (0.54–1.75)
0.99 (0.71–1.37)
Kuriki (52)
2005
Japan
M/F
Aichi Cancer Centre Hospital (ACCH) Hospital outpatients Men: 72/116
Women: 54/122
Men: 0.259
Women: 0.291
Lys carrier vs not Men: 1.04 (0.53–2.06)
Women: 0.87 (0.45–1.68)
Otani (53)
2005
Japan
M/F
All presenting cases identified Hospital outpatients 107/224 0.228 Lys/Lys vs Glu/Glu
Lys/Glu vs Glu/Glu
1.2 (0.49–2.9)
1.1 (0.67–1.9)
Matsuo (54)
2002
Japan
M/F
Aichi Cancer Centre Hospital (ACCH) Gastroscopy outpatients Men: 82/118
Women: 59/123
Men: 0.263
Women: 0.293
Men: Lys/Lys vs Glu/Glu Lys/Glu vs Glu/Glu
Women: Lys/Lys vs Glu/Glu Lys/Glu vs Glu/Glu

0.38 (0.10–1.51)
0.70 (0.38–1.30)
0.63 (0.16–2.48)
1.11 (0.58–2.14)

Murata (55) Colon cancer
1999
Japan
M/F
Colon cancer surgery patients Noncancer outpatients Men: 89/60 0.200 “Doses of mutant allele” Men: 2.13 (0.97–4.66)
Murata (55) Rectal cancer
1999
Japan
M/F
Colon cancer surgery patients Noncancer outpatients Men: 74/60 0.200 “Doses of mutant allele” Men: 1.03 (0.48–2.20)
Yokoyama (56) Colon cancer
1998
Japan
M
Consecutively admitted alcoholic males with colon cancer Cancer-free alcoholic males consecutively admitted to same institution 46/487 0.045 Lys/Glu vs Glu/Glu 3.35 (1.51–7.45)
Jiang (57) Rectal cancer
2007
China
M/F
Incident cases Population based 210/439 0.223 Lys/Lys vs Glu/Glu Lys/Glu vs Glu/Glu 0.72 (0.45–1.15)
0.74 (0.51–1.06)

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Table 13-3
Summary of features of studies of MTHFR C677T polymorphism and colorectal cancer

Study Year Country/
Ethnicity
Gender Description of Cases Description of Controls % TT in Controls Number of Cases/Controls
Chen et al. (61) 1996 U.S. white
M
Health Professionals Followup Study (HPFS)
HPFS
13.4
144/627
Ma et al. (62)* 1997 U.S. white
M
Physicians’ Health Study (PHS)
PHS
15.0
202/326
Slattery et al. (63) 1999 U.S. >90% white
M/F
Kaiser Permanente Medical Care Program (KPMCP)
Population
11.4
1,467/1,821
Park et al. (64) 1999 Korea
M/F
Hospital series
Hospital
16.1
200/460
Ryan et al. (65) 2001 Ireland
M/F
Hospital series
Hospital
9.8
136/848
Chen et al. (66)*,‡ 2002 U.S. white
M
PHS
PHS
15.0
202/326
Shannon et al. (67) 2002 Australia
M/F
Hospital series
Population
9.4
501/1,207
Keku et al. (68) 2002 U.S. white
M/F
North Carolina Colon Cancer Study (NCCCS)
Population
9.5
308/539
    U.S. black
 
1.8
244/329
Le Marchand et al.
(69)
2002 U.S. Japanese
M/F
Hawaii Tumor Registry (HTR)
Population
19.4
322/397
    U.S. white
 
14.0
149/171
    U.S. Hawaiian
 
3.4
77/88
Matsuo et al. (70) 2002 Japan
M/F
Hospital series
Hospital
14.9
142/241
Sachse et al. (41) 2002 U.K. white
M/F
Hospital series
Hospital
8.3
490/592
Toffoli et al. (71) 2003 Italy
M/F
Hospital series
Population
20.1
276/279
Heijmans et al. (72) 2003 Netherlands
M
Zutphen Elderly Study (ZES) cohort
ZES cohort
7.9
18/7,933§
Plaschke et al. (73) 2003 Germany
M/F
Hospital series
Hospital
11.0
287/346
Pufulete et al. (74) 2003 U.K.
M/F
Hospital series
Hospital
7.9
28/76
Kim et al. (75) 2004 Korea
M/F
Hospital series
Hospital
14.7
243/225
Curtin et al. (76)†,‡ 2004 U.S. >90% white
M/F
KPMCP
Population
11.5
1,608/1,972
Yin et al. (77) 2004 Japan
M/F
Hospital series
Population
17.1
685/778
Ulvik et al. (78) 2004 Norway
M/F
JANUS cohort
JANUS cohort
9.7
2,159/2,190
Le Marchand et al. (79) 2005 U.S. mixed
M/F
Multiethnic cohort
Population
12.6
822/2,021
Otani et al. (53) 2005 Japan
M/F
Hospital series
Hospital
25.7
106/222
Matsuo et al. (80) 2005 Japan
M/F
Hospital series
Hospital
17.4
256/771
Jiang et al. (81) 2005 China
M/F
Screening cohort
Screening cohort
18.3
196/980
Wang et al. (82) 2006 India
M/F
Hospital series
Population
0
302/291
Webb et al. (83) 2006 U.K. white
M/F
Hospital series
Population
12.1
2,556/2,692
Koushik et al. (84) 2006 U.S. 97% white
M/F
Nurses Health Study(NHS)/HPFS
NHS/HPFS
14.1
349/794
Murtaugh et al. (85) 2007 U.S. 84% white
M/F
KPMCP
Population
11.5
742/970
Sharp et al. (86) 2007 U.K. 98% white
M/F
Grampian Health Board Registry
Population
11.9
264/408
Theodoratou (87) 2008 U.K. >99% white
M/F
Hospital series
Population
11.5
999/1,010

*Data for same subjects, used later publication in meta-analysis (66).
Data for same subjects, used later publication in meta-analysis (76).
Also looked at A1298C.
§ Prospective cohort study.

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