Title

Male infertility is not liked with HSF1, HSF2 and UBE2I gene polymorphisms among Indian subjects

Authors

Pravin Kumar Gangwar¹, Satya Narayan Sankhwar^1,*, Shriya Pant¹, Bhupendra Pal Singh¹, Abbas Ali Mahdi² & Rajender Singh^3,*

Affiliation

¹Department of Urology, King George’s Medical University, Lucknow, U.P., India; ²Department of Biochemistry, King George’s Medical University, Lucknow, U.P., India: ³Division of Endocrinology, Central Drug Research Institute, Lucknow, U. P., India. ^*Corresponding authors

Email

Prof. Satya Narayan Sankhwar,E-mail: sankhwarsn_sn@yahoo.com; Dr. Rajender Singh, E-mail: nainrs@gmail.com.

Article Type

Research Article

Date

Received July 21, 2021; Revised August 9, 2021; Accepted August 9, 2021, Published August 31, 2021

We analysed the polymorphisms at rs78202224 (C/A) for HSF1 gene, rs139496713 (C/T) and rs45504694 (C/A) for HSF2 gene and rs116868327 (G/A) for UBE2I gene in 547 infertile cases (non-obstructive azoospermia = 464, asthenozoospermia = 83) and 419 proven fertile controls of similar age group and ethnicity. SNP genotyping was done using AgenaMassARRY platform (Agena Bioscience, CA). Common, heterozygous, rare genotypes and allelic frequencies were analysed using dominant, recessive and co-dominant models. Data shows no significant association between HSF1, HSF2 polymorphisms and male infertility. However, under dominant (GG vs GA+AA) and co-dominanat (GG vs GA) model, polymorphism at the rs116868327 (G/A) locus in UBE2I gene was found to be linked with asthenozoospermia in males with a significant odd-ratio of 6.91 (confidence interval at 95% was 1.52-31.46; p=0.017). Moreover, frequency of rare allele was higher (2.4%) compared to controls (0.4%). Thus, this data showed a significant risk of developing asthenozoospermic condition in males (Odds ratio= 6.75; Confidence interval at 95%= 1.50-30.49; P= 0.018]. Hence, more number of genotyping studies along with the functional assay in multiple cohorts is needed to validate potential variants associated with male infertility.

Keywords

Heat shock factor genes; Ubiquitin conjugating enzyme E2I; Single nucleotide polymorphism; Male infertility.

Citation

Gangwar et al. Bioinformation 17(8): 715-220 (2021)

Edited by

P Kangueane

ISSN

0973-2063

Publisher

Biomedical Informatics

License

This is an Open Access article which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. This is distributed under the terms of the Creative Commons Attribution License.