Dataset Information

Association of CYP1A1*2A Polymorphism with Idiopathic Non-Obstructive Azoospermia in A South Indian Cohort.

ABSTRACT:

Background

Infertility is the inability of a couple to conceive after one and a half years of unprotected sex. Male infertility, which accounts for almost half of infertility cases, is considered as a major problem all over the world. The aim of this study was to investigate the association of CYP1A1 polymorphisms with idiopathic non-obstructive azoospermia in a South Indian cohort.

Materials and methods

An experimental study was conducted with idiopathic nonobstructive azoospermia. A total of 120 infertile and 80 fertile samples were collected, and DNA was then extracted from all samples. The CYP1A1*2A polymorphism genotyping was carried out by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP).

Results

The genotype distribution of CYP1A1*2A polymorphism showed significant difference between patients and controls. Moreover, the CC genotype was associated with decreased risk of idiopathic non-obstructive azoospermia in comparison with the TT and TC genotypes.

Conclusion

The current experimental study identified that the CT genotype of CYP1A1*2A polymorphism may contribute to the pathogenesis of male infertility in the South Indian population.

SUBMITTER: Ramgir SS

PROVIDER: S-EPMC5582141 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature

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Publications

Association of CYP1A1*2A Polymorphism with Idiopathic Non-Obstructive Azoospermia in A South Indian Cohort.

Ramgir Shalaka S SS Sekar Nishu N Jindam Divya D V G Abilash A

International journal of fertility & sterility 20170827 3

<h4>Background</h4>Infertility is the inability of a couple to conceive after one and a half years of unprotected sex. Male infertility, which accounts for almost half of infertility cases, is considered as a major problem all over the world. The aim of this study was to investigate the association of CYP1A1 polymorphisms with idiopathic non-obstructive azoospermia in a South Indian cohort.<h4>Materials and methods</h4>An experimental study was conducted with idiopathic nonobstructive azoospermi ...[more]

PMID: 28868835

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Project description:Background: Non-obstructive azoospermia (NOA) is the most severe form of male infertility. Currently, known causative factors, including congenital and several acquired causes only account for approximately 30% of NOA cases. The causes for NOA remain unclear for most patients, which is known as idiopathic (iNOA). However, whether iNOA is due to congenital defects or acquired abnormalities is a confusing problem due to the delayed diagnosis of this frustrating condition until the childbearing age. Therefore, we collected several cases with "secondary idiopathic NOA" and detected the altered mRNAs profiles in the testicular tissues to explore the possible molecular basis. Materials and Methods: In this study, several patients with a previous history of natural pregnancy with their partners before, who were diagnosed as iNOA based on the outcomes of routine semen analysis and multiple testis biopsies now, were enrolled. Some known risk factors and genetic factors were excluded. Therefore, we defined this phenotype as "secondary idiopathic NOA." To explore the possible molecular basis of this disease, we performed mRNA expression analysis through next-generation sequencing on three cases and other three patients with obstructive azoospermia as controls. Bioinformatics analyses were conducted to assess differentially expressed genes and possible biological mechanisms involved in the disease. Quantitative real-time reverse transcription polymerase chain reaction assays were applied to confirm the results in several selected mRNAs involved in stages and metabolism of Sertoli cells. Results: A series of mRNAs were found to be altered in testicular tissues between patients with "secondary idiopathic NOA" and controls, including 6,028 downregulated and 3,402 upregulated mRNAs. Gene Ontology (GO) analysis and Kyoto Encyclopedia of Genes and Genome (KEGG) analyses revealed a range of GO and KEGG terms, such as cellular process involved in reproduction, protein degradation, and absorption. Conclusion: The present study introduces a novel classification called "secondary idiopathic NOA." We provide a global view of the altered mRNAs involved in spermatogenetic failure in these cases. Regarding the limited samples, further studies should be taken to understand this new classification.

Project description:A single nucleotide polymorphism (SNP) rs2853669 (A>G) in the telomerase reverse transcriptase (TERT) promoter has recently been reported in chr5:1,295,349 T>C (T349C), and was shown to be associated with increased cancer risk and poor survival in a specific population. However, at present, the role of this particular SNP with TERT promoter driver mutations and its genetic association with human papilloma virus (HPV) in patients with cervical cancer has not been determined. In the present study, the genetic association of the functional SNP rs2853669 in the presence/absence of TERT promoter hotspot mutations and HPV in patients with cervical cancer of South Indian origin was evaluated. To understand and compare the frequency of the variant allele and its risk association in different cancer types of various populations, the SNP was genotyped in 257 cervical cancer samples and 295 controls, and its associations with TERT promoter hotspot mutations and HPV were analyzed. Furthermore, an extensive search of previously published articles in PubMed, Embase and Web of Science was conducted; a meta-analysis was carried out to elucidate the association of the SNP with different cancer types in global populations. The SNP analysis showed significantly high frequency (41%) of homozygous variant allele rs2853669 (GG) in patients with cervical cancer compared with control samples [Recessive allele model odds ratio (OR)=1.71; 95% CI=1.20-2.43; P=0.003]. No significant interaction was observed between the TERT SNP rs2853669 and HPV status as well as other hotspot TERT promoter (C228T and C250T) mutations determined in our previous study. In addition, the overall meta-analysis revealed a significant association of the SNP rs2853669 with other cancer types in different ethnic populations (OR=1.09; 95% CI=1.03-1.16; P=0.004). The present results suggested that the TERT SNP rs2853669 could play an important role in the risk of cervical cancer in a South Indian population.

Dataset Information

Association of CYP1A1*2A Polymorphism with Idiopathic Non-Obstructive Azoospermia in A South Indian Cohort.

Background

Materials and methods

Results

Conclusion

Publications

Association of CYP1A1*2A Polymorphism with Idiopathic Non-Obstructive Azoospermia in A South Indian Cohort.

Similar Datasets

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