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Peer-reviewedCC BY 4.0International Journal of Molecular Sciences

BRCA1/2 Polymorphisms and the Risk of Recurrent Implantation Failure in Korean Women

  • Hyeon Woo Park1,2,3
  • Da Hwan Kim1,2
  • Ji Hyang Kim4
  • So Yeon Shin4
  • Ji Eun Ko4
  • Nam Keun Kim1,2
4 affiliations
  1. 1Division of Life Sciences, College of Life Sciences, CHA University, Seongnam 13488, Republic of Korea
  2. 2Department of Life Science, Graduate School, CHA University, Seongnam 13488, Republic of Korea
  3. 3Department of Neurology, CHA Bundang Medical Center, School of Medicine, CHA University, Seongnam 13496, Republic of Korea
  4. 4Department of Obstetrics and Gynecology, CHA Bundang Medical Center, School of Medicine, CHA University, Seongnam 13496, Republic of Korea
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Abstract

Recurrent implantation failure (RIF) is a major cause of unsuccessful assisted reproduction, yet its genetic basis remains poorly defined. Because BRCA1 and BRCA2 are central to homologous recombination-mediated repair of DNA double-strand breaks, we examined whether common variants in these genes are associated with RIF. Seven BRCA1/2 single-nucleotide polymorphisms, prioritized from whole-exome sequencing data, were genotyped in 128 women with RIF and 330 controls with proven natural fertility, and associations were estimated by age-adjusted logistic regression with false discovery rate (FDR) correction. The BRCA2 rs1799943 A allele was associated with lower odds of RIF under the heterozygous (adjusted odds ratio [AOR] 0.445, FDR q = 0.006) and dominant (AOR 0.443, q = 0.004) models; no other variant remained associated after correction. In exploratory analyses of the same participants, this inverse association was largely confined to carriers of the BRCA1 rs12516 A allele (interaction q = 0.003), the BRCA2 haplotype carrying the rs1799943 A allele was associated with lower odds of RIF (AOR 0.551, q = 0.012), and nominal associations of genotype combinations involving rs15869 were not supported by formal interaction testing. These findings identify rs1799943 as a candidate variant associated with RIF that warrants replication and functional investigation.

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Cite

BibTeXRIS
BibTeX
@article{park2026brca12,
  title = {{BRCA1/2 Polymorphisms and the Risk of Recurrent Implantation Failure in Korean Women}},
  author = {Hyeon Woo Park and Da Hwan Kim and Ji Hyang Kim and So Yeon Shin and Ji Eun Ko and Nam Keun Kim},
  journal = {International Journal of Molecular Sciences},
  year = {2026},
  month = nov,
  doi = {10.3390/ijms272110032},
  url = {https://www.mdpi.com/1422-0067/27/21/10032},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - BRCA1/2 Polymorphisms and the Risk of Recurrent Implantation Failure in Korean Women
AU  - Hyeon Woo Park
AU  - Da Hwan Kim
AU  - Ji Hyang Kim
AU  - So Yeon Shin
AU  - Ji Eun Ko
AU  - Nam Keun Kim
PY  - 2026
DA  - 2026/11/09
JO  - International Journal of Molecular Sciences
DO  - 10.3390/ijms272110032
UR  - https://www.mdpi.com/1422-0067/27/21/10032
AB  - Recurrent implantation failure (RIF) is a major cause of unsuccessful assisted reproduction, yet its genetic basis remains poorly defined. Because BRCA1 and BRCA2 are central to homologous recombination-mediated repair of DNA double-strand breaks, we examined whether common variants in these genes are associated with RIF. Seven BRCA1/2 single-nucleotide polymorphisms, prioritized from whole-exome sequencing data, were genotyped in 128 women with RIF and 330 controls with proven natural fertility, and associations were estimated by age-adjusted logistic regression with false discovery rate (FDR) correction. The BRCA2 rs1799943 A allele was associated with lower odds of RIF under the heterozygous (adjusted odds ratio [AOR] 0.445, FDR q = 0.006) and dominant (AOR 0.443, q = 0.004) models; no other variant remained associated after correction. In exploratory analyses of the same participants, this inverse association was largely confined to carriers of the BRCA1 rs12516 A allele (interaction q = 0.003), the BRCA2 haplotype carrying the rs1799943 A allele was associated with lower odds of RIF (AOR 0.551, q = 0.012), and nominal associations of genotype combinations involving rs15869 were not supported by formal interaction testing. These findings identify rs1799943 as a candidate variant associated with RIF that warrants replication and functional investigation.
SN  - 1422-0067
ER  -