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

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License

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
Description

pht004745

Alias
UMLS CUI [1,1]
C3846158
De-identified sample ID
Description

SAMPLE_ID

Data type

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C1299222
Histological type [Blood; Buccal Cells; Buffy Coat; Unknown]
Description

HISTOLOGICAL_TYPE

Data type

string

Alias
UMLS CUI [1,1]
C0449574
Body site where sample was collected [Inner Oral Cavity; Peripheral Blood; Unknown]
Description

BODY_SITE

Data type

string

Alias
UMLS CUI [1,1]
C0449705
Analyte type [DNA]
Description

ANALYTE_TYPE

Data type

string

Alias
UMLS CUI [1,1]
C4744818
Tumor status
Description

IS_TUMOR

Data type

string

Alias
UMLS CUI [1,1]
C0475752

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
Type
Description | Question | Decode (Coded Value)
Data type
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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