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Abstract
Increasing evidence indicates that polymorphisms in genes relevant to spermatogenesis might modulate the efficiency of reproduction in men. Ring finger protein 8 (RNF8) and bromodomain testis-specific (BRDT) are two candidate genes associated with spermatogenesis. Here, we considered potential associations of 14 single nucleotide polymorphisms (SNPs) in RNF8 and BRDT genes in Chinese patients with non-obstructive azoospermia (NOA). We analyzed 361 men with NOA and 368 fertile controls by using Sequenom iplex technology. Our data did not reveal any variants associated with NOA susceptibility. However, we observed that rs104669 and rs195432 of RNF8 were in strong linkage disequilibrium. Haplotype analysis of the two SNPs indicated that the haplotype AC reduced the risk of NOA and the haplotype TC significantly evaluated the risk of NOA. Moreover, the RNF8 variants rs195432 (C/A p = 0.030), rs195434 (T/C p = 0.025), and rs2284922 (T/C p = 0.034) were correlated with the smaller testis volume.
Declaration of interest
The authors report no conflicts of interest. This research did not receive any specific grants from any funding agencies in the public, commercial, or not-for-profit sectors. The authors alone are responsible for the content and writing of the paper.
Author contributions
Conception and design: YZ, BS, WD; Collected all samples: JR, XH; Performed the experiments: YZ, BS, XX; Acquisition of data: FZ, XZ; Analyzed the data: XZ, YZ, LY; Preparation of the manuscript: YZ, WD; Final approval of manuscript: WD, YC.
Notice of Correction:
Changes have been made to Tables 2 and 4 since the original online publication date of November 6, 2014.