ID

45431

Descrizione

Principal Investigator: Joseph Broderick, MD, University of Cincinnati, Cincinnati, OH, USA MeSH: Intracranial Aneurysm,Stroke https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000636 The goal of this study is to identify the genes underlying the risk of intracranial aneurysm (IA). The FIA Study initially recruited families appropriate for linkage analysis. Therefore, the recruitment focus was not only on probands with a family history of IA but also required that biological samples be obtained for at least two affected family members. Family members underwent detailed interviews for medical, social and family history, and provided blood samples for DNA extraction. Over 400 multiplex IA families were recruited and enrolled. The whole exome sequencing project aims to identify novel and rare (in the general population) genetic variants that are enriched in seven extended multiplex families with a strong familial aggregation of intracranial aneurysms.

collegamento

dbGaP-study=phs000636

Keywords

versioni (1)
  1. 2022-11-29 2022-11-29 - Chiara Middel
Titolare del copyright

Joseph Broderick, MD, University of Cincinnati, Cincinnati, OH, USA

Caricato su

29 november 2022

DOI

Per favore, per richiedere un accesso.

Licenza

Creative Commons BY 4.0
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dbGaP phs000636 Whole Exome Sequencing for Familial Intracranial Aneurysm (FIA I-II) Study

Inglese

Eligibility Criteria

6 moduli  
Inclusion and exclusion criteria
Descrizione

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
A highly structured diagnostic algorithm was used to phenotype FIA study subjects. All medical records and imaging studies, as well as a screening interview about aneurysm history, were obtained from individuals with a reported history of IA, SAH, or intra cerebral hemorrhage. These data were reviewed by a Verification Committee consisting of study neurologists at the University of Cincinnati and the Mayo Clinic. Two neurologists independently reviewed the records and decided if the subject met all the inclusion and exclusion criteria. In cases of disagreement between the two initial reviewers, a third neurologist was used to resolve the case diagnosis.
Descrizione

Elig.phs000636.v1.p1.1

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0348026
UMLS CUI [1,2]
C0002045
UMLS CUI [1,3]
C0031437
UMLS CUI [1,4]
C0080105
UMLS CUI [2,1]
C0080105
UMLS CUI [2,2]
C0262926
UMLS CUI [2,3]
C0007766
UMLS CUI [2,4]
C0038525
UMLS CUI [2,5]
C2937358
UMLS CUI [2,6]
C0025102
UMLS CUI [2,7]
C1881134
UMLS CUI [2,8]
C0021822
UMLS CUI [3,1]
C0699752
UMLS CUI [3,2]
C1511726
UMLS CUI [3,3]
C1711411
UMLS CUI [3,4]
C2699414
UMLS CUI [3,5]
C0237426
UMLS CUI [4,1]
C0205448
UMLS CUI [4,2]
C0237426
UMLS CUI [4,3]
C0681367
UMLS CUI [4,4]
C0699752
UMLS CUI [4,5]
C0025102
UMLS CUI [4,6]
C4329786
UMLS CUI [5,1]
C0868928
UMLS CUI [5,2]
C0680238
UMLS CUI [5,3]
C0205437
UMLS CUI [5,4]
C0237426
First degree relatives of an individual with an IA (parent, sibling or child) who also had risk factors increasing the likelihood that they might have an unruptured IA (i.e. age of 30 years or older, history of smoking or hypertension) were offered a free study MRA to detect an unruptured IA. All magnetic resonance angiography (MRA) and computed tomography angiography (CTA) scans were reviewed by two neuroradiologists at the Mayo Clinic to determine presence or absence as well as size and location of an IA. For any differences, a consensus meeting was held by the two neuroradiologists. Rigorous phenotype classification was performed for each subject.
Descrizione

Elig.phs000636.v1.p1.2

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C1517194
UMLS CUI [1,2]
C0522476
UMLS CUI [1,3]
C0007766
UMLS CUI [1,4]
C0035648
UMLS CUI [1,5]
C1444648
UMLS CUI [1,6]
C0243032
UMLS CUI [1,7]
C1511790
UMLS CUI [1,8]
C0155730
UMLS CUI [2,1]
C0699752
UMLS CUI [2,2]
C0243032
UMLS CUI [2,3]
C1536105
UMLS CUI [2,4]
C2985415
UMLS CUI [2,5]
C0150312
UMLS CUI [2,6]
C0332197
UMLS CUI [2,7]
C0007766
UMLS CUI [3,1]
C0031437
UMLS CUI [3,2]
C0008902
*Definite*: Medical records document aneurysm on angiogram, operative report, autopsy, or a non-invasive imaging report (MRA, CTA) demonstrates an IA measuring greater than 7mm.
Descrizione

Elig.phs000636.v1.p1.3

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0439544
UMLS CUI [1,2]
C1512693
UMLS CUI [1,3]
C0025102
UMLS CUI [1,4]
C0920316
UMLS CUI [1,5]
C0002940
UMLS CUI [1,6]
C0002978
UMLS CUI [1,7]
C1269801
UMLS CUI [1,8]
C0004398
UMLS CUI [1,9]
C0243032
UMLS CUI [1,10]
C1536105
UMLS CUI [1,11]
C0007766
UMLS CUI [1,12]
C0439093
UMLS CUI [1,13]
C0205453
UMLS CUI [1,14]
C0439200
*Probable*: Death certificate mentions probable intracranial aneurysm without supporting documentation or autopsy. Death certificate mentions subarachnoid hemorrhage without mention of aneurysm *and* a phone screen is consistent with ruptured IA (severe headache or altered level of consciousness) rapidly leading to death. An MRA documents an IA that is less than 7 mm but greater than 3 mm.
Descrizione

Elig.phs000636.v1.p1.4

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0332148
UMLS CUI [1,2]
C1512693
UMLS CUI [1,3]
C0011066
UMLS CUI [1,4]
C0007766
UMLS CUI [1,5]
C1298908
UMLS CUI [1,6]
C0004398
UMLS CUI [1,7]
C0038525
UMLS CUI [1,8]
C1298908
UMLS CUI [1,9]
C0002940
UMLS CUI [1,10]
C1457887
UMLS CUI [1,11]
C0332290
UMLS CUI [1,12]
C3266645
UMLS CUI [1,13]
C2957106
UMLS CUI [1,14]
C0751054
UMLS CUI [2,1]
C0243032
UMLS CUI [2,2]
C0007766
UMLS CUI [2,3]
C0439092
UMLS CUI [2,4]
C0205453
UMLS CUI [2,5]
C0439200
UMLS CUI [2,6]
C0439093
UMLS CUI [2,7]
C0205449
UMLS CUI [2,8]
C0439200
*Possible*: Non-invasive imaging report documents an aneurysm measuring between 2 and 3 mm. Subarachnoid hemorrhage was noted on death certificate, without any supporting documentation, autopsy or recording of headache or altered LOC on phone screen. Death certificate lists 'aneurysm' without specifying cerebral location or accompanying SAH.
Descrizione

Elig.phs000636.v1.p1.5

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0205303
UMLS CUI [1,2]
C0011923
UMLS CUI [1,3]
C0002940
UMLS CUI [1,4]
C0439093
UMLS CUI [1,5]
C0205448
UMLS CUI [1,6]
C0439200
UMLS CUI [1,7]
C0439092
UMLS CUI [1,8]
C0205449
UMLS CUI [1,9]
C0439200
UMLS CUI [2,1]
C0011066
UMLS CUI [2,2]
C0038525
UMLS CUI [2,3]
C1298908
UMLS CUI [2,4]
C0920316
UMLS CUI [2,5]
C1298908
UMLS CUI [2,6]
C0004398
UMLS CUI [2,7]
C1298908
UMLS CUI [2,8]
C1457887
UMLS CUI [3,1]
C0011066
UMLS CUI [3,2]
C0007766
UMLS CUI [3,3]
C1298908
UMLS CUI [3,4]
C1521902
UMLS CUI [3,5]
C0450429
UMLS CUI [3,6]
C1298908
UMLS CUI [3,7]
C0038525
*Not an Affected Case: There is no supporting information for a possible IA*
Descrizione

Elig.phs000636.v1.p1.6

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0522477
UMLS CUI [1,2]
C1298908
UMLS CUI [1,3]
C1533716
UMLS CUI [1,4]
C0007766
For the whole exome sequencing project, all families were reviewed and a set of 7 densely affected IA families were selected for whole exome sequencing. The families chosen had the largest number of definite IA cases. Each family had at least 4 definite IA cases with whole blood DNA available. In addition, in some families 1-2 unaffected individuals were also selected for WES. These unaffected individuals were older (past likely age of IA risk within the family) and had a previous MRA that did not provide any evidence of an unruptured IA. All families included in the WES were of Caucasian ancestry.
Descrizione

Elig.phs000636.v1.p1.7

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C3669174
UMLS CUI [1,2]
C3640077
UMLS CUI [1,3]
C1709701
UMLS CUI [1,4]
C0015576
UMLS CUI [1,5]
C0439064
UMLS CUI [1,6]
C0522476
UMLS CUI [1,7]
C0007766
UMLS CUI [2,1]
C0015576
UMLS CUI [2,2]
C0439064
UMLS CUI [2,3]
C0439544
UMLS CUI [2,4]
C1706256
UMLS CUI [2,5]
C0007766
UMLS CUI [3,1]
C0015576
UMLS CUI [3,2]
C1524031
UMLS CUI [3,3]
C0205450
UMLS CUI [3,4]
C0439544
UMLS CUI [3,5]
C1706256
UMLS CUI [3,6]
C0470187
UMLS CUI [3,7]
C0012854
UMLS CUI [4,1]
C3640077
UMLS CUI [4,2]
C0015576
UMLS CUI [4,3]
C0522477
UMLS CUI [4,4]
C0687676
UMLS CUI [4,5]
C0001779
UMLS CUI [4,6]
C0011900
UMLS CUI [4,7]
C0007766
UMLS CUI [4,8]
C0205156
UMLS CUI [4,9]
C0243032
UMLS CUI [4,10]
C0332125
UMLS CUI [4,11]
C0007766
UMLS CUI [5,1]
C0015576
UMLS CUI [5,2]
C3841890
UMLS CUI [5,3]
C0043157
Individuals were excluded from this study if the IA was of a fusiform shape and unruptured; if the IA was part of an arteriovenous malformation; or if there was a family history of polycystic kidney disease, Marfan's Syndrome, Ehlers-Danlos Syndrome, fibromuscular dysplasia, or Moya-Moya syndrome.
Descrizione

Elig.phs000636.v1.p1.8

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C0332493
UMLS CUI [1,3]
C0155730
UMLS CUI [2,1]
C0680251
UMLS CUI [2,2]
C0007766
UMLS CUI [2,3]
C0007772
UMLS CUI [3,1]
C0680251
UMLS CUI [3,2]
C0241889
UMLS CUI [3,3]
C0022680
UMLS CUI [3,4]
C0024796
UMLS CUI [3,5]
C0013720
UMLS CUI [3,6]
C0016052
UMLS CUI [3,7]
C0026654
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Similar models

Eligibility Criteria

6 moduli
Name
genere
Description | Question | Decode (Coded Value)
Tipo di dati
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Elig.phs000636.v1.p1.1
Item
A highly structured diagnostic algorithm was used to phenotype FIA study subjects. All medical records and imaging studies, as well as a screening interview about aneurysm history, were obtained from individuals with a reported history of IA, SAH, or intra cerebral hemorrhage. These data were reviewed by a Verification Committee consisting of study neurologists at the University of Cincinnati and the Mayo Clinic. Two neurologists independently reviewed the records and decided if the subject met all the inclusion and exclusion criteria. In cases of disagreement between the two initial reviewers, a third neurologist was used to resolve the case diagnosis.
boolean
C0348026 (UMLS CUI [1,1])
C0002045 (UMLS CUI [1,2])
C0031437 (UMLS CUI [1,3])
C0080105 (UMLS CUI [1,4])
C0080105 (UMLS CUI [2,1])
C0262926 (UMLS CUI [2,2])
C0007766 (UMLS CUI [2,3])
C0038525 (UMLS CUI [2,4])
C2937358 (UMLS CUI [2,5])
C0025102 (UMLS CUI [2,6])
C1881134 (UMLS CUI [2,7])
C0021822 (UMLS CUI [2,8])
C0699752 (UMLS CUI [3,1])
C1511726 (UMLS CUI [3,2])
C1711411 (UMLS CUI [3,3])
C2699414 (UMLS CUI [3,4])
C0237426 (UMLS CUI [3,5])
C0205448 (UMLS CUI [4,1])
C0237426 (UMLS CUI [4,2])
C0681367 (UMLS CUI [4,3])
C0699752 (UMLS CUI [4,4])
C0025102 (UMLS CUI [4,5])
C4329786 (UMLS CUI [4,6])
C0868928 (UMLS CUI [5,1])
C0680238 (UMLS CUI [5,2])
C0205437 (UMLS CUI [5,3])
C0237426 (UMLS CUI [5,4])
Elig.phs000636.v1.p1.2
Item
First degree relatives of an individual with an IA (parent, sibling or child) who also had risk factors increasing the likelihood that they might have an unruptured IA (i.e. age of 30 years or older, history of smoking or hypertension) were offered a free study MRA to detect an unruptured IA. All magnetic resonance angiography (MRA) and computed tomography angiography (CTA) scans were reviewed by two neuroradiologists at the Mayo Clinic to determine presence or absence as well as size and location of an IA. For any differences, a consensus meeting was held by the two neuroradiologists. Rigorous phenotype classification was performed for each subject.
boolean
C1517194 (UMLS CUI [1,1])
C0522476 (UMLS CUI [1,2])
C0007766 (UMLS CUI [1,3])
C0035648 (UMLS CUI [1,4])
C1444648 (UMLS CUI [1,5])
C0243032 (UMLS CUI [1,6])
C1511790 (UMLS CUI [1,7])
C0155730 (UMLS CUI [1,8])
C0699752 (UMLS CUI [2,1])
C0243032 (UMLS CUI [2,2])
C1536105 (UMLS CUI [2,3])
C2985415 (UMLS CUI [2,4])
C0150312 (UMLS CUI [2,5])
C0332197 (UMLS CUI [2,6])
C0007766 (UMLS CUI [2,7])
C0031437 (UMLS CUI [3,1])
C0008902 (UMLS CUI [3,2])
Elig.phs000636.v1.p1.3
Item
*Definite*: Medical records document aneurysm on angiogram, operative report, autopsy, or a non-invasive imaging report (MRA, CTA) demonstrates an IA measuring greater than 7mm.
boolean
C0439544 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0025102 (UMLS CUI [1,3])
C0920316 (UMLS CUI [1,4])
C0002940 (UMLS CUI [1,5])
C0002978 (UMLS CUI [1,6])
C1269801 (UMLS CUI [1,7])
C0004398 (UMLS CUI [1,8])
C0243032 (UMLS CUI [1,9])
C1536105 (UMLS CUI [1,10])
C0007766 (UMLS CUI [1,11])
C0439093 (UMLS CUI [1,12])
C0205453 (UMLS CUI [1,13])
C0439200 (UMLS CUI [1,14])
Elig.phs000636.v1.p1.4
Item
*Probable*: Death certificate mentions probable intracranial aneurysm without supporting documentation or autopsy. Death certificate mentions subarachnoid hemorrhage without mention of aneurysm *and* a phone screen is consistent with ruptured IA (severe headache or altered level of consciousness) rapidly leading to death. An MRA documents an IA that is less than 7 mm but greater than 3 mm.
boolean
C0332148 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0011066 (UMLS CUI [1,3])
C0007766 (UMLS CUI [1,4])
C1298908 (UMLS CUI [1,5])
C0004398 (UMLS CUI [1,6])
C0038525 (UMLS CUI [1,7])
C1298908 (UMLS CUI [1,8])
C0002940 (UMLS CUI [1,9])
C1457887 (UMLS CUI [1,10])
C0332290 (UMLS CUI [1,11])
C3266645 (UMLS CUI [1,12])
C2957106 (UMLS CUI [1,13])
C0751054 (UMLS CUI [1,14])
C0243032 (UMLS CUI [2,1])
C0007766 (UMLS CUI [2,2])
C0439092 (UMLS CUI [2,3])
C0205453 (UMLS CUI [2,4])
C0439200 (UMLS CUI [2,5])
C0439093 (UMLS CUI [2,6])
C0205449 (UMLS CUI [2,7])
C0439200 (UMLS CUI [2,8])
Elig.phs000636.v1.p1.5
Item
*Possible*: Non-invasive imaging report documents an aneurysm measuring between 2 and 3 mm. Subarachnoid hemorrhage was noted on death certificate, without any supporting documentation, autopsy or recording of headache or altered LOC on phone screen. Death certificate lists 'aneurysm' without specifying cerebral location or accompanying SAH.
boolean
C0205303 (UMLS CUI [1,1])
C0011923 (UMLS CUI [1,2])
C0002940 (UMLS CUI [1,3])
C0439093 (UMLS CUI [1,4])
C0205448 (UMLS CUI [1,5])
C0439200 (UMLS CUI [1,6])
C0439092 (UMLS CUI [1,7])
C0205449 (UMLS CUI [1,8])
C0439200 (UMLS CUI [1,9])
C0011066 (UMLS CUI [2,1])
C0038525 (UMLS CUI [2,2])
C1298908 (UMLS CUI [2,3])
C0920316 (UMLS CUI [2,4])
C1298908 (UMLS CUI [2,5])
C0004398 (UMLS CUI [2,6])
C1298908 (UMLS CUI [2,7])
C1457887 (UMLS CUI [2,8])
C0011066 (UMLS CUI [3,1])
C0007766 (UMLS CUI [3,2])
C1298908 (UMLS CUI [3,3])
C1521902 (UMLS CUI [3,4])
C0450429 (UMLS CUI [3,5])
C1298908 (UMLS CUI [3,6])
C0038525 (UMLS CUI [3,7])
Elig.phs000636.v1.p1.6
Item
*Not an Affected Case: There is no supporting information for a possible IA*
boolean
C0522477 (UMLS CUI [1,1])
C1298908 (UMLS CUI [1,2])
C1533716 (UMLS CUI [1,3])
C0007766 (UMLS CUI [1,4])
Elig.phs000636.v1.p1.7
Item
For the whole exome sequencing project, all families were reviewed and a set of 7 densely affected IA families were selected for whole exome sequencing. The families chosen had the largest number of definite IA cases. Each family had at least 4 definite IA cases with whole blood DNA available. In addition, in some families 1-2 unaffected individuals were also selected for WES. These unaffected individuals were older (past likely age of IA risk within the family) and had a previous MRA that did not provide any evidence of an unruptured IA. All families included in the WES were of Caucasian ancestry.
boolean
C3669174 (UMLS CUI [1,1])
C3640077 (UMLS CUI [1,2])
C1709701 (UMLS CUI [1,3])
C0015576 (UMLS CUI [1,4])
C0439064 (UMLS CUI [1,5])
C0522476 (UMLS CUI [1,6])
C0007766 (UMLS CUI [1,7])
C0015576 (UMLS CUI [2,1])
C0439064 (UMLS CUI [2,2])
C0439544 (UMLS CUI [2,3])
C1706256 (UMLS CUI [2,4])
C0007766 (UMLS CUI [2,5])
C0015576 (UMLS CUI [3,1])
C1524031 (UMLS CUI [3,2])
C0205450 (UMLS CUI [3,3])
C0439544 (UMLS CUI [3,4])
C1706256 (UMLS CUI [3,5])
C0470187 (UMLS CUI [3,6])
C0012854 (UMLS CUI [3,7])
C3640077 (UMLS CUI [4,1])
C0015576 (UMLS CUI [4,2])
C0522477 (UMLS CUI [4,3])
C0687676 (UMLS CUI [4,4])
C0001779 (UMLS CUI [4,5])
C0011900 (UMLS CUI [4,6])
C0007766 (UMLS CUI [4,7])
C0205156 (UMLS CUI [4,8])
C0243032 (UMLS CUI [4,9])
C0332125 (UMLS CUI [4,10])
C0007766 (UMLS CUI [4,11])
C0015576 (UMLS CUI [5,1])
C3841890 (UMLS CUI [5,2])
C0043157 (UMLS CUI [5,3])
Elig.phs000636.v1.p1.8
Item
Individuals were excluded from this study if the IA was of a fusiform shape and unruptured; if the IA was part of an arteriovenous malformation; or if there was a family history of polycystic kidney disease, Marfan's Syndrome, Ehlers-Danlos Syndrome, fibromuscular dysplasia, or Moya-Moya syndrome.
boolean
C0680251 (UMLS CUI [1,1])
C0332493 (UMLS CUI [1,2])
C0155730 (UMLS CUI [1,3])
C0680251 (UMLS CUI [2,1])
C0007766 (UMLS CUI [2,2])
C0007772 (UMLS CUI [2,3])
C0680251 (UMLS CUI [3,1])
C0241889 (UMLS CUI [3,2])
C0022680 (UMLS CUI [3,3])
C0024796 (UMLS CUI [3,4])
C0013720 (UMLS CUI [3,5])
C0016052 (UMLS CUI [3,6])
C0026654 (UMLS CUI [3,7])
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