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

För en begäran logga in.

Licens

Creative Commons BY 4.0

Modellkommentarer :

Här kan du kommentera modellen. Med hjälp av pratbubblor i Item-grupperna och Item kan du lägga in specifika kommentarer.

Itemgroup-kommentar för :

Item-kommentar för :


Inga kommentarer

Du måste vara inloggad för att kunna ladda ner formulär. Var vänlig logga in eller registrera dig utan kostnad.

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
Beskrivning

pht004745

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

SAMPLE_ID

Datatyp

string

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

HISTOLOGICAL_TYPE

Datatyp

string

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

BODY_SITE

Datatyp

string

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

ANALYTE_TYPE

Datatyp

string

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

IS_TUMOR

Datatyp

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
Typ
Description | Question | Decode (Coded Value)
Datatyp
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])

Använd detta formulär för feedback, frågor och förslag på förbättringar.

Fält markerade med * är obligatoriska.

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