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GWAS Study

Genome-Wide Association Study of Breast Density among Women of African Ancestry.

Verma SS, Guare L, Ehsan S et al.

37345113 PubMed ID
GWAS Study Type
1333 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

VS
Verma SS
GL
Guare L
ES
Ehsan S
GA
Gastounioti A
SG
Scales G
RM
Ritchie MD
KD
Kontos D
MA
McCarthy AM
PM
Penn Medicine Biobank None
Chapter II

Abstract

Summary of the research findings

Breast density, the amount of fibroglandular versus fatty tissue in the breast, is a strong breast cancer risk factor. Understanding genetic factors associated with breast density may help in clarifying mechanisms by which breast density increases cancer risk. To date, 50 genetic loci have been associated with breast density, however, these studies were performed among predominantly European ancestry populations. We utilized a cohort of women aged 40-85 years who underwent screening mammography and had genetic information available from the Penn Medicine BioBank to conduct a Genome-Wide Association Study (GWAS) of breast density among 1323 women of African ancestry. For each mammogram, the publicly available "LIBRA" software was used to quantify dense area and area percent density. We identified 34 significant loci associated with dense area and area percent density, with the strongest signals in GACAT3, CTNNA3, HSD17B6, UGDH, TAAR8, ARHGAP10, BOD1L2, and NR3C2. There was significant overlap between previously identified breast cancer SNPs and SNPs identified as associated with breast density. Our results highlight the importance of breast density GWAS among diverse populations, including African ancestry populations. They may provide novel insights into genetic factors associated with breast density and help in elucidating mechanisms by which density increases breast cancer risk.

1,333 African American individuals

Chapter III

Study Statistics

Key metrics and study information

1333
Total Participants
GWAS
Study Type
No
Replicated
African American or Afro-Caribbean
Ancestry
U.S.
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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