A Case-Control Study of the APELA Gene and Hypertensive Disorders of Pregnancy

Naomi Shimada1, Tomohiro Nakayama2,3, Hiroshi Umemura2

  • 1Division of Legal Medicine, Department of Social Medicine, Nihon University School of Medicine, 30-1 Ooyaguchi-kamicho, Itabashi-ku, Tokyo 173-8610, Japan.

Insights

Genetic variations in the APELA gene may increase the risk of hypertensive disorders of pregnancy (HDPs). A specific haplotype (T-A rs4541465-rs67448487) was more frequent in women with HDPs.

Area of Science:

  • Genetics
  • Obstetrics
  • Cardiovascular Medicine

Background:

  • Hypertensive disorders of pregnancy (HDPs) are complex genetic conditions.
  • APELA gene mutations in mice cause HDP-like symptoms, suggesting a role in placental development.

Purpose of the Study:

  • To investigate the association between HDPs and genetic variations in the human APELA gene.
  • To analyze single-nucleotide variants (SNVs) and haplotypes within the APELA gene in relation to HDPs.

Main Methods:

  • A case-control study was conducted with 196 HDP patients and 254 controls.
  • Six SNVs in the APELA gene were genotyped.
  • Haplotype analysis was performed for identified SNVs.

Main Results:

  • No significant association was found for individual SNVs in the APELA gene.
  • A significant increase in the T-A haplotype (rs4541465-rs67448487) was observed in the HDP group, particularly in cases of gestational hypertension.

Conclusions:

  • The APELA gene may contribute to susceptibility to HDPs.
  • The T-A haplotype rs4541465-rs67448487 is a potential genetic marker for HDP risk.

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