Human Genetics

, Volume 137, Issue 6–7, pp 535–542 | Cite as

Admixture mapping and fine-mapping of birth weight loci in the Black Women’s Health Study

  • Heather M. Ochs-Balcom
  • Holly Shaw
  • Leah Preus
  • Julie R. Palmer
  • Stephen A. Haddad
  • Lynn Rosenberg
  • Edward A. Ruiz-NarváezEmail author
Original Investigation


Several genome-wide association studies (GWAS) have identified genetic variants associated with birth weight. To date, however, most GWAS of birth weight have focused primarily on European ancestry samples even though prevalence of low birth weight is higher among African-Americans. We conducted admixture mapping using 2918 ancestral informative markers in 2596 participants of the Black Women’s Health Study, with the goal of identifying novel genomic regions where local African ancestry is associated with birth weight. In addition, we performed a replication analysis of 11 previously identified index single nucleotide polymorphisms (SNPs), and fine-mapped those genetic loci to identify better or new genetic variants associated with birth weight in African-Americans. We found that high African ancestry at 12q14 was associated with low birth weight, and we identified multiple independent birth weight-lowering variants in this genomic region. We replicated the association of a previous GWAS SNP in ADRB1 and our fine-mapping efforts suggested the presence of new birth weight-associated variants in ADRB1, HMGA2, and SLC2A4. Further studies are needed to determine whether birth weight-associated loci can in part explain race-associated birth weight disparities.



We thank the BWHS participants for their continuing participation in this research effort. This work was supported by grants R01MD007015 from the National Institute on Minority Health and Health Disparities, R01CA058420 and UM1CA164974 from the National Cancer Institute, and 11SDG7390014 from the American Heart Association. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institute on Minority Health and Health Disparities, the National Cancer Institute, the National Institutes of Health, or the American Heart Association.

Compliance with ethical standards

Conflict of interest

On behalf of all authors, the corresponding author states that there are no conflicts of interest.

Supplementary material

439_2018_1908_MOESM1_ESM.docx (479 kb)
Supplementary material 1 (DOCX 478 KB)


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Heather M. Ochs-Balcom
    • 1
  • Holly Shaw
    • 1
  • Leah Preus
    • 1
  • Julie R. Palmer
    • 2
  • Stephen A. Haddad
    • 2
  • Lynn Rosenberg
    • 2
  • Edward A. Ruiz-Narváez
    • 3
    Email author
  1. 1.Department of Epidemiology and Environmental Health, School of Public Health and Health ProfessionsUniversity at BuffaloBuffaloUSA
  2. 2.Slone Epidemiology CenterBoston UniversityBostonUSA
  3. 3.Department of Nutritional SciencesUniversity of Michigan School of Public HealthAnn ArborUSA

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