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      Genetic association study of RNF8 and BRDT variants with non-obstructive azoospermia in the Chinese Han population.

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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.

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          Author and article information

          Journal
          Syst Biol Reprod Med
          Systems biology in reproductive medicine
          Informa UK Limited
          1939-6376
          1939-6368
          Jan 2015
          : 61
          : 1
          Affiliations
          [1 ] Department of Biology, School of Life Sciences, Anhui Medical University .
          Article
          10.3109/19396368.2014.979513
          25374327
          ac724198-714e-4d95-aaef-34376ea9d3fa
          History

          male infertility,RNF8,BRDT,single nucleotide polymorphisms (SNPs),non-obstructive azoospermia

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