Evaluation of SNPs associated with mammographic density in European women with mammographic density in Asian women from South-East Asia

Mariapun S 1 , Ho WK 1 , Eriksson M 2 , Tai MC 1 , Mohd Taib NA 3 , Yip CH 4 Show all authors , Rahmat K 3 , Li J 5 , Hartman M 5 , Hall P 2 , Easton DF 6 , Lindstrom S 7 , Teo SH 8

Affiliations 

  • 1 Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia
  • 2 Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden
  • 3 Faculty of Medicine, University Malaya Cancer Research Institute, University Malaya, Kuala Lumpur, Malaysia
  • 4 Department of Surgery, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
  • 5 Department of Surgery, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore
  • 6 Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK
  • 7 Department of Epidemiology, University of Washington, Seattle, WA, USA
  • 8 Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia. soohwang.teo@cancerresearch.my
Breast Cancer Res Treat, 2023 Sep;201(2):237-245.
PMID: 37338730 DOI: 10.1007/s10549-023-06984-2

Abstract

PURPOSE: Mammographic density (MD), after accounting for age and body mass index (BMI), is a strong heritable risk factor for breast cancer. Genome-wide association studies (GWAS) have identified 64 SNPs in 55 independent loci associated with MD in women of European ancestry. Their associations with MD in Asian women, however, are largely unknown.

METHOD: Using linear regression adjusting for age, BMI, and ancestry-informative principal components, we evaluated the associations of previously reported MD-associated SNPs with MD in a multi-ethnic cohort of Asian ancestry. Area and volumetric mammographic densities were determined using STRATUS (N = 2450) and Volpara™ (N = 2257). We also assessed the associations of these SNPs with breast cancer risk in an Asian population of 14,570 cases and 80,870 controls.

RESULTS: Of the 61 SNPs available in our data, 21 were associated with MD at a nominal threshold of P value  0.05, 29 variants showed consistent directions of association as those previously reported. We found that nine of the 21 MD-associated SNPs in this study were also associated with breast cancer risk in Asian women (P 

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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