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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