https://orcid.org/0000-0002-8200-1298
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Abstract
Background: Homocysteine levels can be impacted by enzymes variations. Aim: To correlate MTHFR, MTR and MTRR variants with homocysteine levels in the blood and follicular fluid and assisted reproduction results. Material & methods:MTHFR (rs2274976, rs1801131, rs1801133), MTR (rs1805087) and MTRR (rs1801394) genotyping was performed by TaqMan assays and compared with homocysteine levels, measured by ELISA, to oocytes retrieved and to the pregnancy status of women with endometriosis and controls. Results: The MTR G allele and GG genotype were more common in patients with endometriosis. They also showed lower levels of homocysteine and more clinical gestations. Epistasis analysis showed a model associated with gestational results, composed of MTHFR+MTR variants (CC+AG). Conclusion: The summation effect of variants in genes participating in folate metabolism was associated with pregnancy status in Brazilian women. MTR variants were more observed in endometriosis patients, as well as lower follicular Hcy levels and increased clinical pregnancy results.
Plain language summary
What was the aim of the study? To correlate genetic variants to homocysteine levels in the blood and oocyte surrounding fluid, and the results of assisted reproduction techniques.
How was the study done? A total of 152 women with endometriosis and controls with male infertility were evaluated. DNA was extracted from blood for genetic analysis, and homocysteine levels were measured from the blood and oocyte surrounding fluid. Genetic results were correlated to homocysteine levels, oocyte quality and pregnancy status.
What were the results? A specific genetic marker occurred more in endometriosis patients. They also showed lower levels of homocysteine and a tendency to more clinical gestations than controls.
What do the results of the study mean? Endometriosis patients showed specific genetic markers and different levels of homocysteine compared with controls. These results can be helpful to predict gestational results.
Tweetable abstract
Study of 152 assisted reproduction patients found decreased follicular homocysteine levels in patients with endometriosis and a tendency to better clinical pregnancy results. A genetic model composed of MTHFR+MTR variants was associated with better gestational results.
Graphical abstract
Author contributions
T Guedes, AAD Santos, FHV Neto, B Bianco, CP Barbosa and DM Christofolini were responsible for conception or design of the work, or the acquisition, analysis or interpretation of data for the work, and the final approval of the version to be published. T Guedes, AAD Santos, FHV Neto, B Bianco and CP Barbosa were responsible for drafting the work or revising it critically for important intellectual content. T Guedes and DM Christofolini were in agreement to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work were appropriately investigated and resolved.
Acknowledgements
The authors would like to thank FAPESP (Fundação de Amparo à Pesquisa do Estado de São Paulo) for financial support (#2010/16274-4), the collaborators from Instituto Ideia Fértil who assisted with the selection and collection of samples and patients, and all patients who agreed to participate in this study.
Financial & competing interests disclosure
Financial support was received from Fundação de Amparo à Pesquisa do Estado de São Paulo – FAPESP (#2010/16274-4). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.
No writing assistance was utilized in the production of this manuscript.
Ethical conduct of research
The authors state that they have obtained appropriate institutional review board approval or have followed the principles outlined in the Declaration of Helsinki for all human or animal experimental investigations. All patients provided a signed informed consent, and the study was approved by the FMABC Ethics Committee (process #097/2010).