Abstract
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.
Highlights
Heat shock factor 1 (HSF1) is required for the response against cellular stress and known as the primary transcription factor, while HSF2 is involved in the regulation of heat shock protein expression to support cells against environmental stresses as well as in cellular processes and spermatogenesis [1]
Study Population gene, a 3’ UTR variant; rs139496713 (C/T) and a 5’ UTR variant; The study was done on the patients of Non-obstructive rs45504694 (C/A) for HSF2 gene and one 3’ UTR variant; azoospermia (NOA) and Asthenozoospermia excluding rs116868327 (G/A) for UBE2I gene were selected based on their obstructive azoospermia
Various experimental reports on mouse models have proven the important function of HSF1 and HSF2 genes in germ cell development in males while UBE2I gene in oocyte development in females [1,2,3,4,5, 12]
Summary
Heat shock factor 1 (HSF1) is required for the response against cellular stress and known as the primary transcription factor, while HSF2 is involved in the regulation of heat shock protein expression to support cells against environmental stresses as well as in cellular processes and spermatogenesis [1]. We collected 5 ml Further, complete loss of both HSF1and HSF2 gene function blood sample from all the study participants for DNA isolation promotes severe defects in spermatogenesis causing sterility [5].
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