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ID

45954

Descrizione

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.

collegamento

dbGaP study=phs000863

Keywords

  1. 16/03/24 16/03/24 - Madita Rudolph
Titolare del copyright

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

Caricato su

16 marzo 2024

DOI

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Licenza

Creative Commons BY 4.0

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    dbGaP phs000863 NCI GWAS of Renal Cell Carcinoma in African Americans

    Sample ID, histological type of sample, body site where each sample was obtained, analyte type, and tumor status of sample obtained from 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.

    pht004745
    Descrizione

    pht004745

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

    SAMPLE_ID

    Tipo di dati

    string

    Alias
    UMLS CUI [1,1]
    C4684638 (De-identified Information)
    UMLS CUI [1,2]
    C1299222 (Sample identification number)
    SNOMED
    372274003
    Histological type [Blood; Buccal Cells; Buffy Coat; Unknown]
    Descrizione

    HISTOLOGICAL_TYPE

    Tipo di dati

    string

    Alias
    UMLS CUI [1,1]
    C0449574 (Histologic type)
    SNOMED
    263541007
    LOINC
    LP72692-4
    Body site where sample was collected [Inner Oral Cavity; Peripheral Blood; Unknown]
    Descrizione

    BODY_SITE

    Tipo di dati

    string

    Alias
    UMLS CUI [1,1]
    C0449705 (Site of sampling)
    SNOMED
    246317007
    LOINC
    MTHU008875
    Analyte type [DNA]
    Descrizione

    ANALYTE_TYPE

    Tipo di dati

    string

    Alias
    UMLS CUI [1,1]
    C4744818 (Analyte Type)
    Tumor status
    Descrizione

    IS_TUMOR

    Tipo di dati

    string

    Alias
    UMLS CUI [1,1]
    C0475752 (Tumor status)
    SNOMED
    277058005

    Similar models

    Sample ID, histological type of sample, body site where each sample was obtained, analyte type, and tumor status of sample obtained from 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
    genere
    Description | Question | Decode (Coded Value)
    Tipo di dati
    Alias
    Item Group
    pht004745
    C3846158 (UMLS CUI [1,1])
    SAMPLE_ID
    Item
    De-identified sample ID
    string
    C4684638 (UMLS CUI [1,1])
    C1299222 (UMLS CUI [1,2])
    HISTOLOGICAL_TYPE
    Item
    Histological type [Blood; Buccal Cells; Buffy Coat; Unknown]
    string
    C0449574 (UMLS CUI [1,1])
    BODY_SITE
    Item
    Body site where sample was collected [Inner Oral Cavity; Peripheral Blood; Unknown]
    string
    C0449705 (UMLS CUI [1,1])
    ANALYTE_TYPE
    Item
    Analyte type [DNA]
    string
    C4744818 (UMLS CUI [1,1])
    Item
    Tumor status
    string
    C0475752 (UMLS CUI [1,1])
    Code List
    Tumor status
    CL Item
    Is not tumor (No)
    CL Item
    Is tumor (Yes)
    C0027651 (UMLS CUI [1,1])

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