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

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

doi:10.3390/genes13060937

Cited by 6 publications

(4 citation statements)

References 33 publications

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“…A recent study showed that MUC4 polymorphism correlates with RPL susceptibility in Korean women [95]. In this study, MUC4 rs882605 C > A and MUC4 rs1104760 A > G were strongly associated with an increased risk of RPL in Korean women.…”

Section: Mucin-related Gene Polymorphismssupporting

confidence: 51%

The Progress of Research on Genetic Factors of Recurrent Pregnancy Loss

Chen

Dong

et al. 2023

Genetics Research

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Recurrent pregnancy loss (RPL) is both mental and physical health problem affecting about 1–5% of women of childbearing age. The etiology of RPL is complex, involving chromosomal abnormalities, autoimmune diseases, metabolic disorders, and endometrial dysfunction. The causes of abortion are still unknown in more than 50% of these cases. With the development of science and technology, an increasing number of scholars focus on this field and find that genetic factors may play an essential role in unexplained RPL, such as embolism-related genes, immune factor-related genes, and chromosomal numeric, and structural variation. This review summarizes the genetic factors associated with RPL, including genetic mutations and genetic polymorphisms, chromosomal variants, and chromosomal polymorphisms. Many related genetic factors have been found to be demographically and geographically relevant, some of which can be used for risk prediction or screening for the etiology of RPL. However, it is difficult to predict and prevent RPL due to uncertain pathogenesis and highly variable clinical presentation. Therefore, the genetic factors of RPL still need plentiful research to obtain a more accurate understanding of its pathogenesis and to provide more detection means for the screening and prevention of RPL.

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Section: Mucin-related Gene Polymorphismssupporting

confidence: 51%

The Progress of Research on Genetic Factors of Recurrent Pregnancy Loss

Chen

Dong

et al. 2023

Genetics Research

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“…As missense variants located on the second exon, MUC4 rs1104760 A>G and 2688513 A>G polymorphisms change the second and first base of the codon, converting isoleucine (ATC) to threonine (ACC) and serine (TCA) to proline (CCA), respectively [ 16 ]. Thus, both polymorphisms are highly likely to alter the gene function and be significantly associated with the prevalence and prognosis of CRC.…”

Section: Resultsmentioning

confidence: 99%

“…Therefore, we analyzed single nucleotide polymorphisms (SNPs) of MUC4 in CRC patients in the Korean population. We selected MUC4 rs882605, rs1104760, and rs26885813 which were suggested to have a significant function on MUC4 expression in our previous paper [ 16 ], and selected rs2246901 that was associated with epithelial tumor [ 17 ]. We analyzed genetic associations between MUC4 SNPs and CRC prevalence as well as metabolic factors to determine potential biomarkers for CRC development.…”

Section: Introductionmentioning

confidence: 99%

Genetic variants of MUC4 are associated with susceptibility to and mortality of colorectal cancer and exhibit synergistic effects with LDL-C levels

Kwon,

Lee,

Kim

et al. 2023

PLoS ONE

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As a disease with high mortality and prevalence rates worldwide, colorectal cancer (CRC) has been thoroughly investigated. Mucins are involved in the induction of CRC and the regulation of intestinal homeostasis but a member of the mucin gene family MUC4 has a controversial role in CRC. MUC4 has been associated with either decreased susceptibility to or a worse prognosis of CRC. In our study, the multifunctional aspects of MUC4 were elucidated by genetic polymorphism analysis in a case-control study of 420 controls and 464 CRC patients. MUC4 rs1104760 A>G polymorphism had a protective effect on CRC risk (AG, AOR = 0.537; GG, AOR = 0.297; dominant model, AOR = 0.493; recessive model, AOR = 0.382) and MUC4 rs2688513 A>G was associated with an increased mortality rate of CRC (5 years, GG, adjusted HR = 6.496; recessive model, adjusted HR = 5.848). In addition, MUC4 rs1104760 A>G showed a high probability of being a potential biomarker for CRC patients with low-density lipoprotein cholesterol (LDL-C) in the risk range while showing a significant synergistic effect with the LDL-C level. This is the first study to indicate a significant association between MUC4 genetic polymorphisms and CRC prevalence, suggesting a functional genetic variant with the LDL-C level, for CRC prevention.

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“…This gene encodes mucin proteins, which protect epithelial surfaces and may be expressed in the endometrium [ 57 , 58 ]. MUC4 polymorphisms have been associated with endometriosis [ 59 ] and recurrent pregnancy loss [ 60 ]. Furthermore, sexual abuse has been associated with chronic pelvic pain as well as laparoscopically confirmed endometriosis [ 61 ], reflecting our association of sexual trauma and DNAm at MUC4 .…”

Section: Discussionmentioning

confidence: 99%

Prenatal maternal stress is associated with site-specific and age acceleration changes in maternal and newborn DNA methylation

et al. 2023

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Prenatal maternal stress has a negative impact on child health but the mechanisms through which maternal stress affects child health are unclear. Epigenetic variation, such as DNA methylation, is a likely mechanistic candidate as DNA methylation is sensitive to environmental insults and can regulate long-term changes in gene expression. We recruited 155 mother-newborn dyads in the Democratic Republic of Congo to investigate the effects of maternal stress on DNA methylation in mothers and newborns. We used four measures of maternal stress to capture a range of stressful experiences: general trauma, sexual trauma, war trauma, and chronic stress. We identified differentially methylated positions (DMPs) associated with general trauma, sexual trauma, and war trauma in both mothers and newborns. No DMPs were associated with chronic stress. Sexual trauma was positively associated with epigenetic age acceleration across several epigenetic clocks in mothers. General trauma and war trauma were positively associated with newborn epigenetic age acceleration using the extrinsic epigenetic age clock. We tested the top DMPs for enrichment of DNase I hypersensitive sites (DHS) and found no enrichment in mothers. In newborns, top DMPs associated with war trauma were enriched for DHS in embryonic and foetal cell types. Finally, one of the top DMPs associated with war trauma in newborns also predicted birthweight, completing the cycle from maternal stress to DNA methylation to newborn health outcome. Our results indicate that maternal stress is associated with site-specific changes in DNAm and epigenetic age acceleration in both mothers and newborns.

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

Cited by 6 publications

References 33 publications

The Progress of Research on Genetic Factors of Recurrent Pregnancy Loss

The Progress of Research on Genetic Factors of Recurrent Pregnancy Loss

Genetic variants of MUC4 are associated with susceptibility to and mortality of colorectal cancer and exhibit synergistic effects with LDL-C levels

Prenatal maternal stress is associated with site-specific and age acceleration changes in maternal and newborn DNA methylation

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