0 Ratings

ID

45954

Description

Principal Investigator: Jonathan Hofmann, PhD, MPH, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA MeSH: Carcinoma, Renal Cell https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000863 The NCI GWAS of renal cell carcinoma (RCC) in African Americans was undertaken to provide insight into genetic loci affecting susceptibility to this malignancy in a racial group known to be at elevated risk. We genotyped 1,136,723 single-nucleotide polymorphisms (SNPs) among 255 cases and 375 controls of African ancestry from the NCI Kidney Cancer Study, and further investigated 16 SNPs in a replication set consisting of 140 cases and 543 controls from a case-control study conducted at the University of Texas MD Anderson Cancer Center. The variant rs10771279 located on 12p11, 77kb from a European-ancestry RCC risk marker, was associated with RCC risk in the GWAS (P=1.2 x 10-7) but did not replicate (P=0.99). The variant 7105934 on 11q13.3, previously associated with RCC in a GWAS using European-ancestry samples, was associated with risk in both studies [meta-analysis odds ratio (OR)=0.76, 95% confidence interval (CI)=0.64-0.91; P=0.0022]. The frequency of this allele was higher than that observed in the European-ancestry GWAS (0.56 and 0.07 respectively among controls). The rs7105934 association was stronger for clear cell RCC (ccRCC: OR=0.56; P=7.4 x 10-7) and absent for cases of other or unknown histology (OR=1.02; P=0.86). In conclusion, this study provides evidence that rs7105934 is a susceptibility locus for RCC, and clear-cell RCC in particular, among African Americans.

Link

dbGaP study=phs000863

Keywords

  1. 3/16/24 3/16/24 - Madita Rudolph
Copyright Holder

Jonathan Hofmann, PhD, MPH, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA

Uploaded on

March 16, 2024

DOI

To request one please log in.

License

Creative Commons BY 4.0

Model comments :

You can comment on the data model here. Via the speech bubbles at the itemgroups and items you can add comments to those specificially.

Itemgroup comments for :

Item comments for :


    No comments

    In order to download data models you must be logged in. Please log in or register for free.

    dbGaP phs000863 NCI GWAS of Renal Cell Carcinoma in African Americans

    Subject ID, study center, case or control, gender, age groups, and population structure principal component of participants with or without renal cell carcinoma and involved in the "National Cancer Institute (NCI) Genome-Wide Association Study (GWAS) of Renal Cell Carcinoma in African Americans" project.

    pht004744
    Description

    pht004744

    Alias
    UMLS CUI [1,1]
    C3846158 (Other Coding)
    LOINC
    LA4728-7
    De-identified subject ID
    Description

    SUBJECT_ID

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C4684638 (De-identified Information)
    UMLS CUI [1,2]
    C2348585 (Clinical Trial Subject Unique Identifier)
    Study center [Chicago, Detroit]
    Description

    CENTER

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C2825181 (Study Coordinating Center)
    Case or control status of the subject
    Description

    AFFECTION_STATUS

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C3274646 (Participant Case or Control Status)
    Gender of participant [MALE, FEMALE]
    Description

    SEX

    Data type

    string

    Alias
    UMLS CUI [1,1]
    C0079399 (Gender)
    SNOMED
    263495000
    LOINC
    LP61312-2
    Subject age groups
    Description

    AGE_GROUP

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C1997894 (Clinical trial participant (person))
    SNOMED
    428024001
    UMLS CUI [1,2]
    C0001779 (Age)
    SNOMED
    424144002
    LOINC
    LP28815-6
    UMLS CUI [1,3]
    C0441833 (Groups)
    SNOMED
    246261001
    Population structure principle component (ie., eigenvalue) that is significantly associated with AFFECTION_STATUS
    Description

    EV4

    Data type

    float

    Alias
    UMLS CUI [1,1]
    C3274646 (Participant Case or Control Status)

    Similar models

    Subject ID, study center, case or control, gender, age groups, and population structure principal component of participants with or without renal cell carcinoma and involved in the "National Cancer Institute (NCI) Genome-Wide Association Study (GWAS) of Renal Cell Carcinoma in African Americans" project.

    Name
    Type
    Description | Question | Decode (Coded Value)
    Data type
    Alias
    Item Group
    pht004744
    C3846158 (UMLS CUI [1,1])
    SUBJECT_ID
    Item
    De-identified subject ID
    string
    C4684638 (UMLS CUI [1,1])
    C2348585 (UMLS CUI [1,2])
    CENTER
    Item
    Study center [Chicago, Detroit]
    string
    C2825181 (UMLS CUI [1,1])
    AFFECTION_STATUS
    Item
    Case or control status of the subject
    string
    C3274646 (UMLS CUI [1,1])
    SEX
    Item
    Gender of participant [MALE, FEMALE]
    string
    C0079399 (UMLS CUI [1,1])
    Item
    Subject age groups
    text
    C1997894 (UMLS CUI [1,1])
    C0001779 (UMLS CUI [1,2])
    C0441833 (UMLS CUI [1,3])
    Code List
    Subject age groups
    CL Item
    50 to 54 years old (50_54)
    CL Item
    55 to 59 years old (55_59)
    CL Item
    60 to 64 years old (60_64)
    CL Item
    65 to 69 years old (65_69)
    CL Item
    70 to 74 years old (70_74)
    CL Item
    Greater or equal to 75 years old (GE_75)
    CL Item
    Less than 50 years old (LT_50)
    EV4
    Item
    Population structure principle component (ie., eigenvalue) that is significantly associated with AFFECTION_STATUS
    float
    C3274646 (UMLS CUI [1,1])

    Do you need help on how to use the search function? Please watch the corresponding tutorial video for more details and learn how to use the search function most efficiently.

    Watch Tutorial