ID

45912

Description

Principal Investigator: David J. Carey, Geisinger Clinic, Danville, PA, USA MeSH: Abdominal aortic aneurysm,Body Mass Index https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000957 DNA samples were obtained from participants of the Geisinger MyCode biobank. Phenotype data to determine case or control status for abdominal aortic aneurysm or extreme obesity were derived from Geisinger electronic medical record data through an enterprise data warehouse. Samples were genotyped using the Illumina Human CoreExome-12 v1.0 Array. Genotype data were filtered using standard quality control measures.

Link

dbGaP study = phs000957

Keywords

Versions (1)
  1. 1/25/24 1/25/24 - Simon Heim
Copyright Holder

David J. Carey, Geisinger Clinic, Danville, PA, USA

Uploaded on

January 25, 2024

DOI

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License

Creative Commons BY 4.0
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dbGaP phs000957 Geisinger Health System - MyCode, eMERGE III Exome Chip

English

Eligibility Criteria

5 forms  
Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
All data to identify cases and controls and exclusions were obtained from Geisinger electronic health record data. The algorithms used to identify phenotypes for Abdominal Aortic Aneurysm (AAA) and extreme obesity are described below.
Description

All data to identify cases and controls and exclusions were obtained from Geisinger electronic health record data. The algorithms used to identify phenotypes for Abdominal Aortic Aneurysm (AAA) and extreme obesity are described below.

Data type

boolean

Alias
UMLS CUI [1,1]
C1511726
UMLS CUI [1,2]
C3274646
UMLS CUI [1,3]
C0680251
UMLS CUI [1,4]
C5691440
UMLS CUI [2,1]
C0002045
UMLS CUI [2,2]
C0031437
UMLS CUI [2,3]
C2706909
UMLS CUI [2,4]
C0162871
UMLS CUI [2,5]
C0028756
AAA cases were defined as meeting one of the following criteria: a procedure code for a AAA repair procedure, at least one vascular clinic encounter with a diagnosis of ruptured AAA, or at least two vascular clinic encounters with a diagnosis of unruptured AAA. AAA controls had an encounter within the past 5 years, with no record of diagnosis code for ruptured or unruptured AAA, or unspecified aortic aneurysm. Patients were excluded if they were younger than 40 or older than 89 years, did not have an encounter within the past 5 years, or had a diagnosis of Marfans, Ehlers Danlos Syndrome, thoracic aneurysm, aortic dissection, or fibormuscular dysplasia.
Description

AAA cases were defined as meeting one of the following criteria: a procedure code for a AAA repair procedure, at least one vascular clinic encounter with a diagnosis of ruptured AAA, or at least two vascular clinic encounters with a diagnosis of unruptured AAA. AAA controls had an encounter within the past 5 years, with no record of diagnosis code for ruptured or unruptured AAA, or unspecified aortic aneurysm. Patients were excluded if they were younger than 40 or older than 89 years, did not have an encounter within the past 5 years, or had a diagnosis of Marfans, Ehlers Danlos Syndrome, thoracic aneurysm, aortic dissection, or fibormuscular dysplasia.

Data type

boolean

Alias
UMLS CUI [1,1]
C0162871
UMLS CUI [1,2]
C1706256
UMLS CUI [1,3]
C1512693
UMLS CUI [2,1]
C0162871
UMLS CUI [2,2]
C0374711
UMLS CUI [2,3]
C0730495
UMLS CUI [2,4]
C0011900
UMLS CUI [2,5]
C0265012
UMLS CUI [3,1]
C0162871
UMLS CUI [3,2]
C4553389
UMLS CUI [3,3]
C1947978
UMLS CUI [3,4]
C1948053
UMLS CUI [3,5]
C5452979
UMLS CUI [3,6]
C0686906
UMLS CUI [3,7]
C0265012
UMLS CUI [4,1]
C0680251
UMLS CUI [4,2]
C0001779
UMLS CUI [4,3]
C1518422
UMLS CUI [4,4]
C1947978
UMLS CUI [4,5]
C1948053
UMLS CUI [4,6]
C5452979
UMLS CUI [4,7]
C0011900
UMLS CUI [4,8]
C0024796
UMLS CUI [4,9]
C0013720
UMLS CUI [4,10]
C0162872
UMLS CUI [4,11]
C0340643
UMLS CUI [4,12]
C0016052
Cases of extreme obesity were defined as follows: super obese (all recorded BMI measures >/= 50 kg/m2), likely super obese (>/= 75% of BMI measures >/= 50 kg/m2), morbid obese (all BMI measures 40-50 kg/m2), and likely morbid obese (>/=>/= 75% of BMI measures 40-50 kg/m2). Two control types were identified: definite normal/overweight (all BMI measures 20-30 kg/m2), and likely normal/overweight (>/= 75% of BMI measures 20-30 kg/m2). Patients are excluded as cases if there is a record of medications associated with weight gain (e.g., oral steroids) and as controls if there is a record of a cause of unintentional weight loss (malnutrition diagnosis, anorexia).
Description

Cases of extreme obesity were defined as follows: super obese (all recorded BMI measures >/= 50 kg/m2), likely super obese (>/= 75% of BMI measures >/= 50 kg/m2), morbid obese (all BMI measures 40-50 kg/m2), and likely morbid obese (>/=>/= 75% of BMI measures 40-50 kg/m2). Two control types were identified: definite normal/overweight (all BMI measures 20-30 kg/m2), and likely normal/overweight (>/= 75% of BMI measures 20-30 kg/m2). Patients are excluded as cases if there is a record of medications associated with weight gain (e.g., oral steroids) and as controls if there is a record of a cause of unintentional weight loss (malnutrition diagnosis, anorexia).

Data type

boolean

Alias
UMLS CUI [1,1]
C1706256
UMLS CUI [1,2]
C0028756
UMLS CUI [1,3]
C1305855
UMLS CUI [2,1]
C0009932
UMLS CUI [2,2]
C1305855
UMLS CUI [2,3]
C0497406
UMLS CUI [3,1]
C0680251
UMLS CUI [3,2]
C0025102
UMLS CUI [3,3]
C4284232
UMLS CUI [3,4]
C0332281
UMLS CUI [3,5]
C0043094
UMLS CUI [3,6]
C2363736
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Similar models

Eligibility Criteria

5 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
All data to identify cases and controls and exclusions were obtained from Geisinger electronic health record data. The algorithms used to identify phenotypes for Abdominal Aortic Aneurysm (AAA) and extreme obesity are described below.
Item
All data to identify cases and controls and exclusions were obtained from Geisinger electronic health record data. The algorithms used to identify phenotypes for Abdominal Aortic Aneurysm (AAA) and extreme obesity are described below.
boolean
C1511726 (UMLS CUI [1,1])
C3274646 (UMLS CUI [1,2])
C0680251 (UMLS CUI [1,3])
C5691440 (UMLS CUI [1,4])
C0002045 (UMLS CUI [2,1])
C0031437 (UMLS CUI [2,2])
C2706909 (UMLS CUI [2,3])
C0162871 (UMLS CUI [2,4])
C0028756 (UMLS CUI [2,5])
AAA cases were defined as meeting one of the following criteria: a procedure code for a AAA repair procedure, at least one vascular clinic encounter with a diagnosis of ruptured AAA, or at least two vascular clinic encounters with a diagnosis of unruptured AAA. AAA controls had an encounter within the past 5 years, with no record of diagnosis code for ruptured or unruptured AAA, or unspecified aortic aneurysm. Patients were excluded if they were younger than 40 or older than 89 years, did not have an encounter within the past 5 years, or had a diagnosis of Marfans, Ehlers Danlos Syndrome, thoracic aneurysm, aortic dissection, or fibormuscular dysplasia.
Item
AAA cases were defined as meeting one of the following criteria: a procedure code for a AAA repair procedure, at least one vascular clinic encounter with a diagnosis of ruptured AAA, or at least two vascular clinic encounters with a diagnosis of unruptured AAA. AAA controls had an encounter within the past 5 years, with no record of diagnosis code for ruptured or unruptured AAA, or unspecified aortic aneurysm. Patients were excluded if they were younger than 40 or older than 89 years, did not have an encounter within the past 5 years, or had a diagnosis of Marfans, Ehlers Danlos Syndrome, thoracic aneurysm, aortic dissection, or fibormuscular dysplasia.
boolean
C0162871 (UMLS CUI [1,1])
C1706256 (UMLS CUI [1,2])
C1512693 (UMLS CUI [1,3])
C0162871 (UMLS CUI [2,1])
C0374711 (UMLS CUI [2,2])
C0730495 (UMLS CUI [2,3])
C0011900 (UMLS CUI [2,4])
C0265012 (UMLS CUI [2,5])
C0162871 (UMLS CUI [3,1])
C4553389 (UMLS CUI [3,2])
C1947978 (UMLS CUI [3,3])
C1948053 (UMLS CUI [3,4])
C5452979 (UMLS CUI [3,5])
C0686906 (UMLS CUI [3,6])
C0265012 (UMLS CUI [3,7])
C0680251 (UMLS CUI [4,1])
C0001779 (UMLS CUI [4,2])
C1518422 (UMLS CUI [4,3])
C1947978 (UMLS CUI [4,4])
C1948053 (UMLS CUI [4,5])
C5452979 (UMLS CUI [4,6])
C0011900 (UMLS CUI [4,7])
C0024796 (UMLS CUI [4,8])
C0013720 (UMLS CUI [4,9])
C0162872 (UMLS CUI [4,10])
C0340643 (UMLS CUI [4,11])
C0016052 (UMLS CUI [4,12])
Cases of extreme obesity were defined as follows: super obese (all recorded BMI measures >/= 50 kg/m2), likely super obese (>/= 75% of BMI measures >/= 50 kg/m2), morbid obese (all BMI measures 40-50 kg/m2), and likely morbid obese (>/=>/= 75% of BMI measures 40-50 kg/m2). Two control types were identified: definite normal/overweight (all BMI measures 20-30 kg/m2), and likely normal/overweight (>/= 75% of BMI measures 20-30 kg/m2). Patients are excluded as cases if there is a record of medications associated with weight gain (e.g., oral steroids) and as controls if there is a record of a cause of unintentional weight loss (malnutrition diagnosis, anorexia).
Item
Cases of extreme obesity were defined as follows: super obese (all recorded BMI measures >/= 50 kg/m2), likely super obese (>/= 75% of BMI measures >/= 50 kg/m2), morbid obese (all BMI measures 40-50 kg/m2), and likely morbid obese (>/=>/= 75% of BMI measures 40-50 kg/m2). Two control types were identified: definite normal/overweight (all BMI measures 20-30 kg/m2), and likely normal/overweight (>/= 75% of BMI measures 20-30 kg/m2). Patients are excluded as cases if there is a record of medications associated with weight gain (e.g., oral steroids) and as controls if there is a record of a cause of unintentional weight loss (malnutrition diagnosis, anorexia).
boolean
C1706256 (UMLS CUI [1,1])
C0028756 (UMLS CUI [1,2])
C1305855 (UMLS CUI [1,3])
C0009932 (UMLS CUI [2,1])
C1305855 (UMLS CUI [2,2])
C0497406 (UMLS CUI [2,3])
C0680251 (UMLS CUI [3,1])
C0025102 (UMLS CUI [3,2])
C4284232 (UMLS CUI [3,3])
C0332281 (UMLS CUI [3,4])
C0043094 (UMLS CUI [3,5])
C2363736 (UMLS CUI [3,6])
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