Elig.phs001315.v1.p1.1
Item
*COLON, Colorectal Cancer: Longitudinal Observational study on Nutritional and lifestyle factors that influence colorectal tumor recurrence, survival and quality of life: *Patients with colorectal cancer from 11 hospitals were invited upon diagnosis. Patients with a history of colorectal cancer or (partial) bowel resection, chronic inflammatory bowel disease, hereditary colorectal cancer syndromes, or dementia were excluded from the study. At diagnosis and at several time points during follow-up, patients donated a blood sample and filled out questionnaires about diet and other lifestyle factors. Blood samples are stored in a biobank to facilitate future analyses. Information on vital status is retrieved by linkage with national registries. Information on clinical characteristics is gathered from linkage with the Netherlands Cancer Registry and with hospital databases. A total of 743 colorectal cancer samples were selected for genotyping. Matching controls were selected from the NQplus study described below.
boolean
C0242800 (UMLS CUI [1,1])
C0011900 (UMLS CUI [1,2])
C0009402 (UMLS CUI [1,3])
C0680251 (UMLS CUI [2,1])
C0262926 (UMLS CUI [2,2])
C0009402 (UMLS CUI [2,3])
C0741614 (UMLS CUI [2,4])
C0021390 (UMLS CUI [2,5])
C0009402 (UMLS CUI [2,6])
C0039082 (UMLS CUI [2,7])
C0439660 (UMLS CUI [2,8])
C0497327 (UMLS CUI [2,9])
C0011008 (UMLS CUI [3,1])
C0011900 (UMLS CUI [3,2])
C0439547 (UMLS CUI [3,3])
C1522577 (UMLS CUI [3,4])
C1277698 (UMLS CUI [3,5])
C3273494 (UMLS CUI [3,6])
C0034394 (UMLS CUI [3,7])
C0178913 (UMLS CUI [4,1])
C1698986 (UMLS CUI [4,2])
C0206512 (UMLS CUI [4,3])
C1148433 (UMLS CUI [5,1])
C1514918 (UMLS CUI [5,2])
C0034975 (UMLS CUI [5,3])
C0681788 (UMLS CUI [5,4])
C1533716 (UMLS CUI [6,1])
C0449440 (UMLS CUI [6,2])
C1514918 (UMLS CUI [6,3])
C0034975 (UMLS CUI [6,4])
C0681788 (UMLS CUI [6,5])
C0019994 (UMLS CUI [6,6])
C0242356 (UMLS CUI [6,7])
C1265611 (UMLS CUI [7,1])
C0009402 (UMLS CUI [7,2])
C0870078 (UMLS CUI [7,3])
C1285573 (UMLS CUI [7,4])
C1708943 (UMLS CUI [8,1])
C0027361 (UMLS CUI [8,2])
C0008976 (UMLS CUI [8,3])
Elig.phs001315.v1.p1.2
Item
*DACHS, Darmkrebs: Chancen der Verhütung durch Screening:* Cases with a first diagnosis of invasive colorectal cancer (International Classification of Diseases 10 codes C18-C20) who were at least 30 years of age (no upper age limit), German speaking, a resident in the study region, and mentally and physically able to participate in a one-hour interview, were recruited by their treating physicians either in the hospital a few days after surgery, or by mail after discharge from the hospital. Cases were confirmed based on histologic reports and hospital discharge letters following diagnosis of colorectal cancer. All hospitals treating colorectal cancer patients in the study region participated. Community-based controls were randomly selected from population registries, employing frequency matching with respect to age (5-year groups), sex, and county of residence. Controls with a history of colorectal cancer were excluded. Controls were contacted by mail and follow-up calls. In total 1268 cases and 634 matched controls were selected for genotyping.
boolean
C0205435 (UMLS CUI [1,1])
C0011900 (UMLS CUI [1,2])
C0677898 (UMLS CUI [1,3])
C0009402 (UMLS CUI [1,4])
C0001779 (UMLS CUI [1,5])
C0017477 (UMLS CUI [1,6])
C1145677 (UMLS CUI [1,7])
C0205276 (UMLS CUI [1,8])
C2347958 (UMLS CUI [1,9])
C2825164 (UMLS CUI [1,10])
C0085732 (UMLS CUI [1,11])
C0679823 (UMLS CUI [1,12])
C0021822 (UMLS CUI [1,13])
C0242800 (UMLS CUI [2,1])
C1710470 (UMLS CUI [2,2])
C3489408 (UMLS CUI [2,3])
C0242800 (UMLS CUI [3,1])
C1710470 (UMLS CUI [3,2])
C0231290 (UMLS CUI [3,3])
C2361123 (UMLS CUI [3,4])
C0011900 (UMLS CUI [4,1])
C0750484 (UMLS CUI [4,2])
C0679557 (UMLS CUI [4,3])
C0552421 (UMLS CUI [4,4])
C0679823 (UMLS CUI [5,1])
C0019994 (UMLS CUI [5,2])
C0087111 (UMLS CUI [5,3])
C0009402 (UMLS CUI [5,4])
C2825164 (UMLS CUI [5,5])
C0009932 (UMLS CUI [6,1])
C0034656 (UMLS CUI [6,2])
C0242802 (UMLS CUI [6,3])
C1549709 (UMLS CUI [6,4])
C1708943 (UMLS CUI [6,5])
C0001779 (UMLS CUI [6,6])
C0079399 (UMLS CUI [6,7])
C1562954 (UMLS CUI [6,8])
C0680251 (UMLS CUI [7,1])
C0009932 (UMLS CUI [7,2])
C0262926 (UMLS CUI [7,3])
C0009402 (UMLS CUI [7,4])
C0009932 (UMLS CUI [8,1])
C0332158 (UMLS CUI [8,2])
C0681850 (UMLS CUI [8,3])
C0013849 (UMLS CUI [8,4])
C1522577 (UMLS CUI [8,5])
C0175745 (UMLS CUI [8,6])
C1265611 (UMLS CUI [9,1])
C0009932 (UMLS CUI [9,2])
C1285573 (UMLS CUI [9,3])
Elig.phs001315.v1.p1.3
Item
*EPIC, European Prospective Investigation into Cancer:* In summary, 521,448 participants (~70% women) mostly aged 35 years or above were recruited between 1992 and 2000. Participants were recruited from 23 study centers in ten European countries. The current study included participants from France, Germany, Greece, Italy, the Netherlands, Spain, Sweden, and United Kingdom (UK). Blood samples were collected at baseline according to standardized procedures, and stored at the International Agency for Research on Cancer (IARC; -196ºC, liquid nitrogen) for all countries except Sweden (-80ºC freezers). All study participants provided written informed consent. Ethical approval for the EPIC study was obtained from the review boards of IARC and local participating centers. Incident cancer cases were identified using population cancer registries in Italy, the Netherlands, Spain, and the United Kingdom. In France, Germany and Greece cancer cases were identified during follow-up by a combination of methods including: health insurance records, cancer and pathology registries, and by active follow-up directly through study participants or through next-of-kin. Controls were selected from the full cohort of individuals who were alive and free of cancer (except non-melanoma skin cancer) at the time of diagnoses of the cases, using incidence density sampling and matched by: age (±6 months at recruitment), sex, study center, follow-up time since blood collection, time of day at blood collection (±4 hours), fasting status, menopausal status, and phase of menstrual cycle at blood collection. The current study selected 2,400 incident colorectal cancer cases, and 2,400 matched controls.
boolean
C0242800 (UMLS CUI [1,1])
C0449238 (UMLS CUI [1,2])
C0001779 (UMLS CUI [1,3])
C0242800 (UMLS CUI [2,1])
C2825164 (UMLS CUI [2,2])
C0015176 (UMLS CUI [2,3])
C1997894 (UMLS CUI [3,1])
C0079946 (UMLS CUI [3,2])
C0005834 (UMLS CUI [4,1])
C1442488 (UMLS CUI [4,2])
C1698986 (UMLS CUI [4,3])
C0260055 (UMLS CUI [4,4])
C2347026 (UMLS CUI [5,1])
C0038995 (UMLS CUI [5,2])
C1698986 (UMLS CUI [5,3])
C0175738 (UMLS CUI [5,4])
C0742766 (UMLS CUI [6,1])
C0021430 (UMLS CUI [6,2])
C0086911 (UMLS CUI [7,1])
C0205540 (UMLS CUI [7,2])
C2825164 (UMLS CUI [7,3])
C1551358 (UMLS CUI [8,1])
C0006826 (UMLS CUI [8,2])
C1706256 (UMLS CUI [8,3])
C0600091 (UMLS CUI [8,4])
C1257890 (UMLS CUI [8,5])
C0805443 (UMLS CUI [8,6])
C0022277 (UMLS CUI [8,7])
C0027778 (UMLS CUI [8,8])
C0037747 (UMLS CUI [8,9])
C0041700 (UMLS CUI [8,10])
C1706256 (UMLS CUI [9,1])
C0600091 (UMLS CUI [9,2])
C0017480 (UMLS CUI [9,3])
C0016674 (UMLS CUI [9,4])
C0018226 (UMLS CUI [9,5])
C1522577 (UMLS CUI [9,6])
C0021682 (UMLS CUI [9,7])
C0805443 (UMLS CUI [9,8])
C0034869 (UMLS CUI [9,9])
C0242800 (UMLS CUI [10,1])
C0009932 (UMLS CUI [10,2])
C2584946 (UMLS CUI [10,3])
C1298908 (UMLS CUI [10,4])
C0006826 (UMLS CUI [10,5])
C1705847 (UMLS CUI [10,6])
C0699893 (UMLS CUI [10,7])
C0021149 (UMLS CUI [10,8])
C0178587 (UMLS CUI [10,9])
C0870078 (UMLS CUI [10,10])
C1708943 (UMLS CUI [10,11])
C0027361 (UMLS CUI [10,12])
C0001779 (UMLS CUI [10,13])
C0079399 (UMLS CUI [10,14])
C2825164 (UMLS CUI [10,15])
C1522577 (UMLS CUI [10,16])
C0439548 (UMLS CUI [10,17])
C0015663 (UMLS CUI [10,18])
C3829127 (UMLS CUI [10,19])
C1818633 (UMLS CUI [10,20])
Elig.phs001315.v1.p1.4
Item
*HPFS, Health Professionals Follow-up Study:* In 1993-1995, 18,825 men in the HPFS mailed blood samples by overnight courier, which were aliquoted into buffy coat and stored in liquid nitrogen. In 2001-2004, 13,956 men in the HPFS who had not provided a blood sample previously, mailed in a swish-and-spit sample of buccal cells. Incident cases were defined as those occurring after the subject provided a blood or buccal sample. Prevalent cases were defined as those occurring after enrollment in the study in 1986, but before the subject provided either a blood or buccal sample. After excluding participants with histories of cancer (except non-melanoma skin cancer), ulcerative colitis, or familial polyposis, 2 case-control sets were constructed from which DNA was isolated from either buffy coat or buccal cells for genotyping, as follows: (1) a case-control set with cases of colorectal cancer matched to randomly selected controls who provided a blood sample and were free of colorectal cancer at the same time the colorectal cancer was diagnosed in the cases; and (2) a case-control set with cases of colorectal cancer matched to randomly selected controls who provided a buccal sample and were free of colorectal cancer at the same time the colorectal cancer was diagnosed in the case. For both case-control sets, matching criteria included year of birth (within 1 year) and month/year of blood or buccal cell sampling (within 6 months). Cases were pair-matched 1:1, 1:2, or 1:3 with a control participant(s). For this study, colorectal cancer cases were ascertained through January 1, 2010 and excluded cases included in the previous discovery GWAS of colorectal cancer [PMID:23266556]. If no control could be matched for a case using the initial stringent criteria, age criteria were relaxed to <5 years to find an eligible control. A total of 237 CRC cases and 236 controls were selected for genotyping.
boolean
C0449238 (UMLS CUI [1,1])
C1997894 (UMLS CUI [1,2])
C0024492 (UMLS CUI [1,3])
C0178913 (UMLS CUI [1,4])
C1510844 (UMLS CUI [1,5])
C2347229 (UMLS CUI [1,6])
C1698986 (UMLS CUI [1,7])
C0260055 (UMLS CUI [1,8])
C0449238 (UMLS CUI [2,1])
C1997894 (UMLS CUI [2,2])
C0024492 (UMLS CUI [2,3])
C1554939 (UMLS CUI [2,4])
C5419552 (UMLS CUI [2,5])
C1551358 (UMLS CUI [3,1])
C0868928 (UMLS CUI [3,2])
C1704788 (UMLS CUI [3,3])
C2745955 (UMLS CUI [3,4])
C0231290 (UMLS CUI [3,5])
C1999230 (UMLS CUI [3,6])
C2347026 (UMLS CUI [3,7])
C5204628 (UMLS CUI [4,1])
C0868928 (UMLS CUI [4,2])
C1704788 (UMLS CUI [4,3])
C2745955 (UMLS CUI [4,4])
C0231290 (UMLS CUI [4,5])
C1516879 (UMLS CUI [4,6])
C0332152 (UMLS CUI [4,7])
C1999230 (UMLS CUI [4,8])
C2347026 (UMLS CUI [4,9])
C0680251 (UMLS CUI [5,1])
C0262926 (UMLS CUI [5,2])
C0006826 (UMLS CUI [5,3])
C1705847 (UMLS CUI [5,4])
C0699893 (UMLS CUI [5,5])
C0009324 (UMLS CUI [5,6])
C0241889 (UMLS CUI [5,7])
C0032580 (UMLS CUI [5,8])
C0009932 (UMLS CUI [6,1])
C1698493 (UMLS CUI [6,2])
C0150098 (UMLS CUI [6,3])
C0009402 (UMLS CUI [6,4])
C0034656 (UMLS CUI [6,5])
C0332296 (UMLS CUI [6,6])
C0006826 (UMLS CUI [6,7])
C0011008 (UMLS CUI [6,8])
C0011900 (UMLS CUI [6,9])
C0009932 (UMLS CUI [7,1])
C1698493 (UMLS CUI [7,2])
C0150098 (UMLS CUI [7,3])
C0009402 (UMLS CUI [7,4])
C0034656 (UMLS CUI [7,5])
C5419552 (UMLS CUI [7,6])
C0332296 (UMLS CUI [7,7])
C0006826 (UMLS CUI [7,8])
C0011008 (UMLS CUI [7,9])
C0011900 (UMLS CUI [7,10])
C0009932 (UMLS CUI [7,11])
C0009932 (UMLS CUI [8,1])
C1698493 (UMLS CUI [8,2])
C0150098 (UMLS CUI [8,3])
C1708943 (UMLS CUI [8,4])
C0243161 (UMLS CUI [8,5])
C2826771 (UMLS CUI [8,6])
C1302413 (UMLS CUI [8,7])
C1698493 (UMLS CUI [9,1])
C0009402 (UMLS CUI [9,2])
C0680251 (UMLS CUI [9,3])
C2348568 (UMLS CUI [9,4])
C0205156 (UMLS CUI [9,5])
C0008976 (UMLS CUI [9,6])
C0009932 (UMLS CUI [10,1])
C1298908 (UMLS CUI [10,2])
C1708943 (UMLS CUI [10,3])
C0243161 (UMLS CUI [10,4])
C0542193 (UMLS CUI [10,5])
C0001779 (UMLS CUI [10,6])
C1698493 (UMLS CUI [11,1])
C1265611 (UMLS CUI [11,2])
Elig.phs001315.v1.p1.5
Item
*NHS, Nurses' Health Study:*In 1989-1990, 32,826 women in NHS I mailed blood samples by overnight courier, which were aliquoted into buffy coat and stored in liquid nitrogen. In 2001-2004, 29,684 women in NHS I who did not previously provide a blood sample mailed a swish-and-spit sample of buccal cells. Incident cases were defined as those occurring after the subject provided a blood or buccal sample. Prevalent cases were defined as those occurring after enrollment in the study in 1976 but before the subject provided either a blood or buccal sample. After excluding participants with histories of cancer (except non-melanoma skin cancer), ulcerative colitis, or familial polyposis, 2 case-control sets were constructed from which DNA was isolated from either buffy coat or buccal cells for genotyping: (1) a case-control set with cases of colorectal cancer matched to randomly selected controls who provided a blood sample and were free of colorectal cancer at the same time the colorectal cancer was diagnosed in the case; and (2) a case-control set with cases of colorectal cancer matched to randomly selected controls who provided a buccal sample and were free of colorectal cancer at the same time the colorectal cancer was diagnosed in the cases. For this study, colorectal cancer cases were ascertained through June 1, 2012 and excluded cases included in the previous discovery GWAS of colorectal cancer [PMID:23266556]. For both case-control sets, matching criteria included year of birth (within 1 year) and month/year of blood or buccal cell sampling (within 1 year). If no control could be matched for a case using the initial stringent criteria, age criteria were relaxed to <5 years to find an eligible control. Cases were pair matched 1:1, 1:2, or 1:3 with a control participant(s). A total of 370 CRC cases and 370 controls were selected for genotyping.
boolean
C0043210 (UMLS CUI [1,1])
C0024492 (UMLS CUI [1,2])
C1277698 (UMLS CUI [1,3])
C0439583 (UMLS CUI [1,4])
C5237201 (UMLS CUI [1,5])
C0200365 (UMLS CUI [1,6])
C2347229 (UMLS CUI [1,7])
C1698986 (UMLS CUI [1,8])
C0260055 (UMLS CUI [1,9])
C0043210 (UMLS CUI [2,1])
C1298908 (UMLS CUI [2,2])
C0205156 (UMLS CUI [2,3])
C1277698 (UMLS CUI [2,4])
C1554939 (UMLS CUI [2,5])
C1551358 (UMLS CUI [3,1])
C1698493 (UMLS CUI [3,2])
C1704788 (UMLS CUI [3,3])
C2745955 (UMLS CUI [3,4])
C0231290 (UMLS CUI [3,5])
C1302413 (UMLS CUI [3,6])
C5204628 (UMLS CUI [4,1])
C1698493 (UMLS CUI [4,2])
C1704788 (UMLS CUI [4,3])
C2745955 (UMLS CUI [4,4])
C0231290 (UMLS CUI [4,5])
C1516879 (UMLS CUI [4,6])
C0332152 (UMLS CUI [4,7])
C1302413 (UMLS CUI [4,8])
C0680251 (UMLS CUI [5,1])
C0455471 (UMLS CUI [5,2])
C1705847 (UMLS CUI [5,3])
C0007117 (UMLS CUI [5,4])
C0553723 (UMLS CUI [5,5])
C0009324 (UMLS CUI [5,6])
C0241889 (UMLS CUI [5,7])
C0032580 (UMLS CUI [5,8])
C0872128 (UMLS CUI [6,1])
C0012854 (UMLS CUI [6,2])
C0205409 (UMLS CUI [6,3])
C2936475 (UMLS CUI [6,4])
C1578559 (UMLS CUI [6,5])
C1285573 (UMLS CUI [6,6])
C0872128 (UMLS CUI [7,1])
C1698493 (UMLS CUI [7,2])
C0009402 (UMLS CUI [7,3])
C0150103 (UMLS CUI [7,4])
C3898900 (UMLS CUI [7,5])
C0679646 (UMLS CUI [7,6])
C0178913 (UMLS CUI [7,7])
C0872128 (UMLS CUI [8,1])
C1698493 (UMLS CUI [8,2])
C0009402 (UMLS CUI [8,3])
C0150103 (UMLS CUI [8,4])
C3898900 (UMLS CUI [8,5])
C0679646 (UMLS CUI [8,6])
C1578559 (UMLS CUI [8,7])
C0680251 (UMLS CUI [9,1])
C0205156 (UMLS CUI [9,2])
C1880355 (UMLS CUI [9,3])
C0009402 (UMLS CUI [9,4])
C2350277 (UMLS CUI [9,5])
C0150103 (UMLS CUI [10,1])
C0243161 (UMLS CUI [10,2])
C2826771 (UMLS CUI [10,3])
C0011008 (UMLS CUI [10,4])
C0200345 (UMLS CUI [10,5])
C1698493 (UMLS CUI [11,1])
C0150103 (UMLS CUI [11,2])
C4743675 (UMLS CUI [11,3])
C0035028 (UMLS CUI [11,4])
C0001779 (UMLS CUI [11,5])
C0243161 (UMLS CUI [11,6])
C1265611 (UMLS CUI [12,1])
C1285573 (UMLS CUI [12,2])
C1698493 (UMLS CUI [12,3])
C0009932 (UMLS CUI [12,4])
Elig.phs001315.v1.p1.6
Item
*NQplus, Nutrition Questionnaires plus:* A total of 2,048 participants were recruited by inviting randomly selected inhabitants of the neighboring cities Wageningen, Ede, Renkum and Arnhem. In Veenendaal, another neighboring city, one individual of each household was invited to participate in the NQplus study. Baseline measurements consisted of a fasting venipuncture, dietary assessment, a physical examination, 24-h urine collection and general and lifestyle questionnaires. For this study, 179 persons without a blood sample, and those with a history of colorectal cancer, chronic inflammatory bowel disease or dementia were excluded. From the remaining 1,869 NQplus participants, controls were selected, whom were matched to the colorectal cancer cases of the COLON study by age and gender. A total of 737 control samples were selected for genotyping.
boolean
C0679646 (UMLS CUI [1,1])
C0242800 (UMLS CUI [1,2])
C0439605 (UMLS CUI [1,3])
C2826348 (UMLS CUI [1,4])
C0237096 (UMLS CUI [1,5])
C0017446 (UMLS CUI [1,6])
C0205394 (UMLS CUI [2,1])
C1555315 (UMLS CUI [2,2])
C2826348 (UMLS CUI [2,3])
C0205447 (UMLS CUI [2,4])
C0237401 (UMLS CUI [2,5])
C0020052 (UMLS CUI [2,6])
C1442488 (UMLS CUI [3,1])
C0242485 (UMLS CUI [3,2])
C0015663 (UMLS CUI [3,3])
C0600406 (UMLS CUI [3,4])
C0814244 (UMLS CUI [3,5])
C0031809 (UMLS CUI [3,6])
C0455060 (UMLS CUI [3,7])
C0332118 (UMLS CUI [3,8])
C0023676 (UMLS CUI [3,9])
C0034394 (UMLS CUI [3,10])
C0680251 (UMLS CUI [4,1])
C1298908 (UMLS CUI [4,2])
C0470187 (UMLS CUI [4,3])
C0178913 (UMLS CUI [4,4])
C0009402 (UMLS CUI [4,5])
C0021390 (UMLS CUI [4,6])
C0497327 (UMLS CUI [4,7])
C1708943 (UMLS CUI [5,1])
C0009932 (UMLS CUI [5,2])
C1698493 (UMLS CUI [5,3])
C0009402 (UMLS CUI [5,4])
C0079399 (UMLS CUI [5,5])
C0001779 (UMLS CUI [5,6])
C1265611 (UMLS CUI [6,1])
C0009932 (UMLS CUI [6,2])
C0370003 (UMLS CUI [6,3])
C1285573 (UMLS CUI [6,4])