Copy number variants within AZF region of Y chromosome and their association with idiopathic male infertility in Serbian population.

Results of numerous studies gave contradictory conclusions when analysing associations between copy number variants (CNVs) within the azoospermia factor (AZF) locus of the Y chromosome and idiopathic male infertility. The aim of this study was to identify the presence and possible association of CNVs in the AZF region of Y chromosome with idiopathic male infertility in the Serbian population. Using the multiplex ligation-dependent probe amplification technique, we were able to detect CNVs in 24 of 105 (22.86%) infertile men and in 11 of 112 (9.82%) fertile controls. The results of Fisher's exact test showed a statistically significant difference between cases and controls after merging g(reen)-r(ed)/g(reen)-r(ed) and b(lue)2/b(lue)3 partial deletions identified in the AZFc region (p = 0.024). At the same time, we observed a trend towards statistical significance for a deletion among gr/gr amplicons (p = 0.053). In addition to these, we identified a novel complex CNV involving inversion of r2/r3 amplicons, followed by b2/b3 duplication and b3/b4 deletion, respectively. Additional analyses on a larger study group would be necessary to draw meaningful conclusions about associations among CNVs that presented with higher frequency in the infertile men than the fertile controls.

Association between a Genetic Variant in the hsa-miR-146a Gene and Cancer Risk: An Updated Meta-Analysis.

BACKGROUND AND AIMS: A large number of studies have investigated the association between the potentially functional genetic variant rs2910164 located in the hsa-miR-146a gene and susceptibility to various types of cancer. Nevertheless, the results obtained in these studies are contradictory. Therefore, we conducted a meta-analysis of data from eligible reports comprising a total of 28,359 cases and 41,678 controls. METHODS: The literature included in this meta-analysis was selected from the PubMed database. Quantitative data synthesis was performed by using the OpenMeta-analyst software. RESULTS: The meta-analysis yielded no evidence of an association between rs2910164 and the overall cancer risk. Conversely, the C allele of this genetic variant was found to be associated with a decreased risk of developing bladder and cervical cancer in multiple genetic models. The same direction of association was found for the C allele and liver cancer, gastric cancer and oral squamous cell carcinoma risk. In contrast to these results, the same allelic variant of rs2910164 was found to confer an increased risk of developing lung cancer. The stratified meta-analysis based on ethnicity did not show significant differences in the association between rs2910164 and cancer risk in populations with different ethnic backgrounds. CONCLUSION: We conclude that rs2910164 may represent a valuable biomarker associated with the risk of developing specific types of cancer.