Chapter 13 - Colorectal cancer
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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.”
necessarily represent the views of the funding agency.”
These chapters were published with modifications by Oxford University Press (2010)
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) |
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) |
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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