ID

45954

Beskrivning

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.

Länk

dbGaP study=phs000863

Nyckelord

  1. 2024-03-16 2024-03-16 - Madita Rudolph
Rättsinnehavare

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

Uppladdad den

16 mars 2024

DOI

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Licens

Creative Commons BY 4.0

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dbGaP phs000863 NCI GWAS of Renal Cell Carcinoma in African Americans

Subject ID, consent group, and affection status 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.

pht004742
Beskrivning

pht004742

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

SUBJECT_ID

Datatyp

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C2348585
Consent
Beskrivning

CONSENT

Datatyp

text

Alias
UMLS CUI [1,1]
C0021430
Case or control status of the subject
Beskrivning

AFFECTION_STATUS

Datatyp

string

Alias
UMLS CUI [1,1]
C3274646

Similar models

Subject ID, consent group, and affection status 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
Typ
Description | Question | Decode (Coded Value)
Datatyp
Alias
Item Group
pht004742
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
De-identified subject ID
string
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
Item
Consent
text
C0021430 (UMLS CUI [1,1])
Code List
Consent
CL Item
Disease-Specific (Kidney Cancer, NPU, MDS) (DS-RCC-NPU-MDS) (1)
AFFECTION_STATUS
Item
Case or control status of the subject
string
C3274646 (UMLS CUI [1,1])

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