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ID

45954

Beschrijving

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

Trefwoorden

  1. 16-03-24 16-03-24 - Madita Rudolph
Houder van rechten

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

Geüploaded op

16 maart 2024

DOI

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Licentie

Creative Commons BY 4.0

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    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
    Beschrijving

    pht004744

    Alias
    UMLS CUI [1,1]
    C3846158
    De-identified subject ID
    Beschrijving

    SUBJECT_ID

    Datatype

    string

    Alias
    UMLS CUI [1,1]
    C4684638
    UMLS CUI [1,2]
    C2348585
    Study center [Chicago, Detroit]
    Beschrijving

    CENTER

    Datatype

    string

    Alias
    UMLS CUI [1,1]
    C2825181
    Case or control status of the subject
    Beschrijving

    AFFECTION_STATUS

    Datatype

    string

    Alias
    UMLS CUI [1,1]
    C3274646
    Gender of participant [MALE, FEMALE]
    Beschrijving

    SEX

    Datatype

    string

    Alias
    UMLS CUI [1,1]
    C0079399
    Subject age groups
    Beschrijving

    AGE_GROUP

    Datatype

    text

    Alias
    UMLS CUI [1,1]
    C1997894
    UMLS CUI [1,2]
    C0001779
    UMLS CUI [1,3]
    C0441833
    Population structure principle component (ie., eigenvalue) that is significantly associated with AFFECTION_STATUS
    Beschrijving

    EV4

    Datatype

    float

    Alias
    UMLS CUI [1,1]
    C3274646

    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)
    Datatype
    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])

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