Genetic association of vitamin D receptor gene with female infertility

Authors

Mussarat Ashraf, Aga Khan UniversityFollow
Haq Nawaz Khan, Aga Khan UniversityFollow
Rabab Ibrahim, Aga Khan University
Maheen Shahid, Aga Khan University
Sher Khan, Aga Khan UniversityFollow
Ambrin Fatima, Aga Khan UniversityFollow
Saif Ullah, University of Karachi, Pakistan
Rehana Rehman, Aga Khan UniversityFollow

Document Type

Article

Department

Biological and Biomedical Sciences

Abstract

Background: Infertility is defined as failure to achieve a clinical pregnancy after 12 months of unprotected intercourse. It affects 15% of couples globally and 22% of couples within Pakistan. Female infertility can be caused by numerous genetic or environmental factors including hormone imbalances and exposure to chemicals or radiation. The prevalence of vitamin D deficiency among the adult population was reported to be 14-59% with a higher prevalence in Asian countries. Furthermore, the expression of Vitamin D receptor (VDR) can play a vital role in the reproductive organs of females. Hence, the aim of our present study was to check the association of VDR polymorphisms with infertile females. For this purpose, blood samples were collected for genotyping of four known VDR mutations [FokI (rs2228570), TaqI (rs731236), ApaI (rs7975232), and BsmI (rs1544410)] via PCR-based RFLP assay.
Results: Genotyping indicated that FokI, TaqI, and ApaI are associated with infertility (p = 0.004*, p = 0.013*, and p = 0.033*, respectively). However, BsmI did not show any significance. Multinomial regression analysis indicated that FokI heterozygous genotypes increase the risk of infertility by 2.5 times (hetero: OR = 2.5, 95%, p = 0.001*) as compared to wild type. Heterozygous genotypes of TaqI and ApaI were found to play a protective role and reduce the risk of infertility by 58 and 52%, respectively [TaqI: OR = 0.42, 95%, p = 0.004*, ApaI: OR = 0.48, 95%, p = 0.01*, respectively] as compared to wild type. Multinomial logistic regression analysis was also performed for allelic data as well.
Conclusion: Thus, it could be summarized that among the studied polymorphisms of VDR, FokI SNP greatly increased the risk of infertility, while TaqI and ApaI genotypes protect from infertility. However, BsmI does not influence the risk of infertility in Pakistani females

Comments

Volume, issue are not provided by the author/publisher

Publication (Name of Journal)

Nucleosides, Nucleotides & Nucleic Acids

Recommended Citation

Ashraf, M., Khan, H. N., Ibrahim, R., Shahid, M., Khan, S., Fatima, A., Ullah, S., Rehman, R. (2023). Genetic association of vitamin D receptor gene with female infertility. Nucleosides, Nucleotides & Nucleic Acids, 1-18.
Available at: https://ecommons.aku.edu/pakistan_fhs_mc_bbs/1017