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·2025
Association Study of Hyaluronan-Binding Protein 2 (HABP2) Gene Polymorphisms in Idiopathic Recurrent Pregnancy Loss (RPL) in Korean Women
Jeong Yong Lee, Young Ran Kim, Eun Ju Ko, Hyeon Woo Park, Jae Hyun Lee, Seung Ho Hong, Ji Eun Shin, Eun Hee Ahn, Ji Hyang Kim, Nam Keun Kim
IF 4.9International Journal of Molecular Sciences
초록

Recurrent pregnancy loss (RPL), also termed recurrent spontaneous abortion, is defined as the failure of ≥2 consecutive pregnancies before 20 weeks of gestation. Approximately 5% of pregnant couples experience RPL. The hyaluronan-binding protein 2 (<i>HABP2</i>) gene is involved in coagulation and plays an important role during pregnancy. In >50% of RPLs, the etiology remains unexplained. We collected 765 blood samples from 388 female RPL patients and 377 healthy female controls. To investigate the relationships between <i>HABP2</i> polymorphisms and RPL, we examined six <i>HABP2</i> variants (rs3832698 A>del, rs10885478 G>A, rs932650 T>C, rs7923349 G>T, rs1157916 G>A, and rs2240879 T>C) to clarify their association with RPL risk. The rs2240879 CC genotype was significantly associated with an increased RPL risk (<i>p</i> = 0.028). In haplotype analysis, the combination of rs3832698 del and rs2240879 T (del-T) was associated with elevated risk (<i>p</i> = 0.043); this risk persisted in combinations with additional polymorphisms (rs3832698 A>del, rs10885478 G>A, rs932650 T>C, rs7923349 G>T; del-A-T-T, <i>p</i> < 0.001; rs3832698 A>del, rs10885478 G>A, rs932650 T>C, rs7923349 G>T, rs1157916 G>A, rs2240879 T>C; del-A-C-T-G-T, <i>p</i> = 0.024). The rs3832698 and rs1157916 genotypes were significantly associated with prothrombin time (<i>p</i> = 0.020 and <i>p</i> = 0.012, respectively). We identified associations between <i>HABP2</i> polymorphisms and RPL; rs2240879 was linked to an increased RPL risk. Additionally, rs3832698 was associated with an altered prothrombin time. These findings suggest that <i>HABP2</i> represents a biomarker for RPL susceptibility.

키워드
EtiologyHaplotypeGenotypePregnancyBiomarkerGenePolymorphism (computer science)Genetic association
타입
article
IF / 인용수
4.9 / 0
게재 연도
2025