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Association between HOX Transcript Antisense RNA Single-Nucleotide Variants and Recurrent Implantation Failure
Jeong Yong Lee1, Eun Hee Ahn2, Hyeon Woo Park1
1Department of Biomedical Science, College of Life Science, CHA University, Seongnam 13488, Korea.
International Journal of Molecular Sciences
|April 3, 2021
Summary
Genetic variations in the HOTAIR gene are linked to recurrent implantation failure (RIF), a condition causing multiple failed IVF attempts. This study identifies specific HOTAIR single-nucleotide variants associated with RIF, offering new insights into its causes.
Area of Science:
- Genetics
- Reproductive Medicine
- Epigenetics
Background:
- Recurrent implantation failure (RIF) affects individuals undergoing in vitro fertilization-embryo transfer (IVF-ET).
- Potential causes of RIF include embryo quality, immunological, and coagulation factors.
- Genetic factors, specifically single-nucleotide variants (SNVs), are increasingly recognized as contributors to RIF.
Purpose of the Study:
- To investigate the association between SNVs in the long non-coding RNA HOTAIR and recurrent implantation failure (RIF).
- To explore the relationship between specific HOTAIR SNVs and biochemical markers in RIF patients.
Main Methods:
- Genotyping of four HOTAIR SNVs (rs4759314, rs920778, rs7958904, rs1899663) in 155 female RIF patients and 330 healthy controls.
- Comparative analysis of SNV frequencies and genotype distributions between RIF patients and controls.
- Analysis of variance (ANOVA) to assess associations between HOTAIR variants and serum levels of hemoglobin (Hgb), luteinizing hormone (LH), total cholesterol (T. chol), and blood urea nitrogen (BUN).
- Haplotype analysis of the four HOTAIR SNVs.
Main Results:
- Significant differences in heterozygous genotypes and dominant expression models for rs1899663 and rs7958904 HOTAIR SNVs were observed between RIF patients and controls.
- These specific HOTAIR variants were found to be associated with variations in serum Hgb, LH, T. chol, and BUN levels.
- Distinct haplotype patterns of the four analyzed HOTAIR SNVs were identified in RIF patients compared to healthy controls.
Conclusions:
- The long non-coding RNA HOTAIR, previously implicated in cancer, is also associated with pregnancy-associated diseases like RIF.
- Specific SNVs and haplotype patterns within the HOTAIR gene are correlated with recurrent implantation failure.
- This study provides the first evidence linking HOTAIR to RIF, suggesting its potential role as a genetic marker.
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