Research Papers:

X chromosome-wide identification of SNVs in microRNA genes and non-obstructive azoospermia risk in Han Chinese population

Juan Ji _, Yufeng Qin, Ran Zhou, Rujin Zang, Zhenyao Huang, Yan Zhang, Minjian Chen, Wei Wu, Ling Song, Xiufeng Ling, Hongbing Shen, Zhibin Hu, Yankai Xia, Chuncheng Lu and Xinru Wang

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Oncotarget. 2016; 7:49122-49129. https://doi.org/10.18632/oncotarget.8759

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Juan Ji1,2, 4,*, Yufeng Qin3,*, Ran Zhou1,2,*, Rujin Zang5, Zhenyao Huang1,2, Yan Zhang1,2, Minjian Chen1,2, Wei Wu1,2, Ling Song1,2, Xiufeng Ling4, Hongbing Shen1,6, Zhibin Hu1,6, Yankai Xia1,2, Chuncheng Lu1,2, Xinru Wang1,2

1State Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing 210029, China

2Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing 210029, China

3Epigenetics & Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA

4Department of Children Health Care, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Nanjing 210029, China

5Department of Pediatric Surgery, State Key Laboratory of Reproductive Medicine, Nanjing Children’s Hospital Affiliated Nanjing Medical University, Nanjing 210008, China

6Department of Epidemiology and Biostatistics and Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing 211166, China

*The authors have contributed equally to this study and they should be regarded as joint first authors

Correspondence to:

Chuncheng Lu, email: [email protected]

Xinru Wang, email: [email protected]

Keywords: X-linked miRNAs, non-obstructive azoospermia

Received: January 08, 2016    Accepted: March 28, 2016    Published: April 16, 2016


Human X chromosome has higher densities of microRNAs (miRNAs) compared to the average densities on autosomes. Given that numbers of X-linked miRNAs can escape from meiotic sex chromosome inactivation (MSCI) silencing, it is proposed that X-linked miRNAs may play critical roles in the process of spermatogenesis. To test the hypothesis, we performed DNA capture sequencing of human X-linked miRNAs, which was followed by a two-stage case-control study to identify the non-obstructive azoospermia (NOA) related single nucleotide variants (SNVs) in 1107 NOA cases and 1191 fertile healthy controls. Eventually, we found rs5951785, located near hsa-miRNA-506/507, increased the risk of NOA, while rs1447393, near hsa-miRNA-510, decreased the risk of NOA. Functional analysis revealed that rs5951785 significantly inhibited cell proliferation and induced cell apoptosis. Taken together, our results demonstrated that X-linked miRNAs played important roles in the pathogenesis of NOA.

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