Association Study between Mucin 4 (MUC4) Polymorphisms and Idiopathic Recurrent Pregnancy Loss in a Korean Population

Ji-Hyang Kim; Han-Sung Park; Jeong-Yong Lee; Eun-Ju Ko; Young-Ran Kim; Hee-Young Cho; Woo-Sik Lee; Eun-Hee Ahn; Nam-Keun Kim

doi:10.3390/genes13060937

Association Study between Mucin 4 (MUC4) Polymorphisms and Idiopathic Recurrent Pregnancy Loss in a Korean Population

Genes (Basel). 2022 May 24;13(6):937. doi: 10.3390/genes13060937.

Authors

Ji-Hyang Kim¹, Han-Sung Park², Jeong-Yong Lee², Eun-Ju Ko², Young-Ran Kim¹, Hee-Young Cho³, Woo-Sik Lee⁴, Eun-Hee Ahn¹, Nam-Keun Kim²

Affiliations

¹ Department of Obstetrics and Gynecology, CHA Bundang Medical Center, CHA University, Seongnam 13496, Korea.
² Department of Biomedical Science, College of Life Science, CHA University, Seongnam 13488, Korea.
³ Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University, Seoul 06135, Korea.
⁴ Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul 06135, Korea.

Abstract

Recurrent pregnancy loss (RPL) is the loss of two or more consecutive pregnancies before 20 weeks of gestational age. Our study investigated whether mucin 4 (MUC4) polymorphisms are associated with RPL. MUC polymorphisms (rs882605 C>A, rs1104760 A>G, rs2688513 A>G, rs2258447 C>T, and rs2291652 A>G) were genotyped in 374 women with RPL and 239 controls of Korean ethnicity using polymerase chain reaction-restriction fragment length polymorphism analysis and the TaqMan probe SNP genotyping assay. Differences in genotype frequencies between cases of RPL and the controls were compared. MUC4 rs882605 C>A and rs1104760 A>G polymorphisms were associated with increased incidence of RPL in three and four or more pregnancy loss patients. The haplotype analyses showed a tendency for the allelic effect including the association of MUC4 rs882605 A and rs1104760 G alleles with increased incidence of RPL. In addition, the MUC4 rs882605 CA/MUC4 rs2258447 CC genotype combination was associated with increased RPL prevalence. The two exonic polymorphisms lead to amino acid changes of protein and may act as pathogenic variants for RPL. In conclusion, the MUC4 rs882605 C>A and MUC4 rs1104760 A>G polymorphisms were associated with the susceptibility of RPL and we considered them as potential biomarkers for RPL.

Keywords: MUC4; polymorphisms; recurrent pregnancy loss.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Abortion, Habitual* / genetics
Case-Control Studies
Female
Humans
Mucin-4* / genetics
Polymorphism, Single Nucleotide / genetics
Pregnancy
Republic of Korea

Substances

MUC4 protein, human
Mucin-4

Grants and funding

This research was supported by the National Research Foundation of Korea (NRF) grants funded by the Korean Government (MSIT; grant number 2020R1F1A107452511, 2018R1D1A1A0908276414, and 2018R1D1A1B07044096).