Abstract:
:BACKGROUND This study aimed to screen common and low-frequency variants of nonobstructive azoospermia (NOA)-associated genes, and to construct a database for NOA-associated single nucleotide variants (SNVs). MATERIAL AND METHODS Next-generation sequencing of 466 NOA-associated genes was performed in 34 patients with NOA (mean age, 29.06±4.49 years) and 40 sperm donors (mean age, 25.08±5.75 years) from the Han population of northeast China. The SNV database was constructed by summarizing NOA non-negatively-associated SNVs showing statistical differences between NOA cases and controls, and then selecting low-frequency variants using Baylor's pipeline, to identify statistically valid SNVs. RESULTS There were 65 SNVs identified that were significantly different between both groups (p<0.05). Five genetic variants showed positive correlations with NOA: MTRR c.537T>C (rs161870), odds ratios (OR), 3.686, 95% confidence interval (CI), 1.228-11.066; MTRR, c.1049A>G (rs162036), OR, 3.686, 95% CI, 1.228-11.066; PIWIL1, c.1580G>A (rs1106042), OR, 4.737, 95% CI, 1.314-17.072; TAF4B, c.1815T>C (rs1677016), OR, 3.599, 95% CI, 1.255-10.327; and SOX10 c.927T>C (rs139884), OR, 3.192, 95% CI, 1.220-8.353. Also, 52 NOA non-negatively associated SNVs and 39 SNVs were identified by Baylor's pipeline and selected for the SNV database. CONCLUSIONS Five genetic variants were shown to have positive correlations with NOA. The SNV database constructed contained NOA non-negatively associated SNVs and low-frequency variants. This study showed that this approach was an effective strategy to identify risk alleles of NOA.
journal_name
Med Sci Monitjournal_title
Medical science monitor : international medical journal of experimental and clinical researchauthors
Liu X,Xi Q,Li L,Wang Q,Jiang Y,Zhang H,Liu R,Wang Rdoi
10.12659/MSM.915375subject
Has Abstractpub_date
2019-08-04 00:00:00pages
5801-5812eissn
1234-1010issn
1643-3750pii
915375journal_volume
25pub_type
杂志文章abstract::BACKGROUND The prevalence of chronic pain among the elderly is high (estimated at 25-85%) and may adversely affect their everyday functioning, although it is often unrecognized. MATERIAL AND METHODS The aim of this study was to assess the prevalence of chronic pain, especially with th...
journal_title:Medical science monitor : international medical journal of experimental and clinical research
pub_type: 杂志文章
doi:10.12659/MSM.911260
更新日期:2019-04-12 00:00:00
abstract::BACKGROUND Simazine is a triazine herbicide used worldwide in both agricultural and non-agricultural fields that is frequently detected in surface water and groundwater. Due to its widespread use, an increasing amount of research has focused on the potentially serious environmental and health risks. MATERIAL AND METHO...
journal_title:Medical science monitor : international medical journal of experimental and clinical research
pub_type: 杂志文章
doi:10.12659/msm.896460
更新日期:2016-08-11 00:00:00
abstract:BACKGROUND:The aim of this cross-sectional study was to examine the relationship between obesity and lipid markers. MATERIAL AND METHODS:We divided 66 non-diabetic adult obese patients (mean age: 55.8±11.6 years) into 3 groups according to body mass index (BMI). All patients were measured for waist circumference (WC),...
journal_title:Medical science monitor : international medical journal of experimental and clinical research
pub_type: 杂志文章
doi:10.12659/MSM.890845
更新日期:2014-12-16 00:00:00
abstract:BACKGROUND:Risk of venous thromboembolism (VTE), including deep vein thrombosis (DVT) and pulmonary embolism (PE), may be increased in liver cirrhosis. We conducted a single-center study to explore the epidemiology, risk factors, and in-hospital mortality of VTE in Chinese patients with liver cirrhosis. MATERIAL/METHO...
journal_title:Medical science monitor : international medical journal of experimental and clinical research
pub_type: 杂志文章
doi:10.12659/msm.896153
更新日期:2016-03-24 00:00:00
abstract:BACKGROUND:Interstitial irradiation therapy using radionuclides is a slow and continual process in which the effect is exerted gradually, thus improvement of the hypoxic status of the tumor will also take a long time. It has been known that carbogen delivery of 5-15 min increases tumor oxygenation. However, the long-te...
journal_title:Medical science monitor : international medical journal of experimental and clinical research
pub_type: 杂志文章
doi:
更新日期:2010-01-01 00:00:00
abstract:BACKGROUND:Genetic and environmental factors both play important roles in the occurrence and progression of diabetic retinopathy (DR). IL-10 592 gene polymorphism is associated with diabetes pathogenesis. This study analyzed the relationship between IL-10 gene promoter-592 loci polymorphism (SNP) in a diabetic model ra...
journal_title:Medical science monitor : international medical journal of experimental and clinical research
pub_type: 杂志文章
doi:10.12659/msm.894371
更新日期:2015-10-22 00:00:00
abstract::BACKGROUND Protein kinase C zeta (PKC ζ) plays an important role in insulin induced glycometabolism and insulin receptor (IR) associated signaling pathways. The full activation of PKC ζ depends on its translocation from cytosol to membrane and phosphorylation at Thr410. However, the mechanism of PKC ζ activation remai...
journal_title:Medical science monitor : international medical journal of experimental and clinical research
pub_type: 杂志文章
doi:10.12659/msm.905555
更新日期:2017-07-28 00:00:00
abstract::BACKGROUND Inositol is an essential nutrient for cell growth, survival and embryonic development. Myo-inositol is the predominant form in natural. To investigate the correlation between inositol metabolism and embryonic development, we assessed the metabolic characteristics of myo-inositol, phosphatidylinositol 4,5-bi...
journal_title:Medical science monitor : international medical journal of experimental and clinical research
pub_type: 杂志文章
doi:10.12659/MSM.921088
更新日期:2020-02-17 00:00:00
abstract::BACKGROUND Inappropriate use of antibiotics results in antimicrobial resistance and dysbacteriosis. Among critically ill cirrhotic patients, consensus regarding the most optimal prescription strategy for antibiotics use has not been achieved. For these patients, the score for end-stage liver disease (MELD) demonstrate...
journal_title:Medical science monitor : international medical journal of experimental and clinical research
pub_type: 杂志文章
doi:10.12659/MSM.914409
更新日期:2019-07-06 00:00:00
abstract:BACKGROUND:This study assessed the efficacy and safety of treatment of chronic hepatitis C in children with pegylated interferon alpha and ribavirin. MATERIAL/METHODS:Investigations were performed on 53 children with chronic hepatitis C, aged 8-17 years. Children were divided into 2 groups: naïve (n=29) and retreated ...
journal_title:Medical science monitor : international medical journal of experimental and clinical research
pub_type: 杂志文章
doi:
更新日期:2010-12-01 00:00:00
abstract::BACKGROUND Endothelial progenitor cells (EPCs) play an important role in therapeutic angiogenesis. Besides, resveratrol (RSV) exerts many pharmacological functions in regulation of cell function. Furthermore, microRNAs (miRNAs) have been considered to be of great significance in biological process. In this study, we a...
journal_title:Medical science monitor : international medical journal of experimental and clinical research
pub_type: 杂志文章
doi:10.12659/MSM.917013
更新日期:2019-10-13 00:00:00
abstract:BACKGROUND:Several studies have reported the association of PTPN2 gene with type 1 diabetes mellitus (T1DM) in many populations but not in the Chinese Han population. Therefore, the goal of our study was to replicate the reported association between 2 single-nucleotide polymorphisms (SNPs; rs478582 and rs2542151) in th...
journal_title:Medical science monitor : international medical journal of experimental and clinical research
pub_type: 杂志文章
doi:10.12659/MSM.893607
更新日期:2015-09-07 00:00:00
abstract::BACKGROUND The STin2 VNTR polymorphism has a variable number of tandem repeats in intron 2 of the serotonin transporter gene. We aimed to explore the relationship between STin2 VNTR polymorphism and lifelong premature ejaculation (LPE). MATERIAL AND METHODS We recruited a total of 115 outpatients who complained of eja...
journal_title:Medical science monitor : international medical journal of experimental and clinical research
pub_type: 杂志文章
doi:10.12659/msm.897720
更新日期:2016-10-07 00:00:00
abstract::BACKGROUND The aim of this study was to investigate relationships between early atherosclerosis and inflammatory bowel disease (IBD) using laboratory, functional, and morphological markers of atherosclerosis. MATERIAL AND METHODS In the present prospective single-center study, 96 patients with IBD (58 patients with ul...
journal_title:Medical science monitor : international medical journal of experimental and clinical research
pub_type: 杂志文章
doi:10.12659/msm.898160
更新日期:2016-10-24 00:00:00
abstract::BACKGROUND Mirror therapy for stroke patients was reported to be effective in improving upper-extremity motor function and daily life activity performance. In addition, game-based virtual reality can be realized using a gesture recognition (GR) device, and various tasks can be presented. Therefore, this study investig...
journal_title:Medical science monitor : international medical journal of experimental and clinical research
pub_type: 杂志文章,随机对照试验
doi:10.12659/MSM.914095
更新日期:2019-05-03 00:00:00
abstract::BACKGROUND Chronic hypertension changes the function and structure of the heart and blood vessels. This study aimed to explore the role of the NOD1/Rip2 (nucleotide-binding oligomerization domain 1/receptor-interacting protein 2) signaling pathway in myocardial remodeling in spontaneously hypertensive rats (SHRs). MAT...
journal_title:Medical science monitor : international medical journal of experimental and clinical research
pub_type: 杂志文章
doi:10.12659/MSM.924748
更新日期:2020-08-28 00:00:00
abstract:MATERIAL AND METHODS:In 12 Wistar rats the gross and microscopic structure of haemolymph splenic nodes was assessed after splenectomy and the obtained results were compared with those in the control group. RESULTS:It was found that splenectomy leads to generalised morphological changes of the mentioned nodes, includin...
journal_title:Medical science monitor : international medical journal of experimental and clinical research
pub_type: 杂志文章
doi:
更新日期:2000-07-01 00:00:00
abstract:BACKGROUND:The aim was to determine the effectiveness of continuous aminophylline infusion on refractory bronchospasm in long-term mechanically ventilated neonates. CASE REPORT:Presented are seven newborns with gestational ages from 24 to 38 weeks and mean age at treatment of 29.7 days. All were mechanically ventilate...
journal_title:Medical science monitor : international medical journal of experimental and clinical research
pub_type: 杂志文章
doi:
更新日期:2007-08-01 00:00:00
abstract::The purpose of this study was to investigate the distribution of Chlamydia trachomatis (CT) genotypes in infective diseases of the female lower genital tract, especially in cervical diseases. This study included 128 CT-positive women. DNA was extracted from cervical swabs. Omp1 gene PCR-RFLP and sequencing were used t...
journal_title:Medical science monitor : international medical journal of experimental and clinical research
pub_type: 杂志文章
doi:10.12659/msm.902756
更新日期:2017-09-17 00:00:00
abstract::BACKGROUND Thyroid nodules are extremely common and typically diagnosed with ultrasound whether benign or malignant. Imaging diagnosis assisted by Artificial Intelligence has attracted much attention in recent years. The aim of our study was to build an ensemble deep learning classification model to accurately differe...
journal_title:Medical science monitor : international medical journal of experimental and clinical research
pub_type: 杂志文章
doi:10.12659/MSM.926096
更新日期:2020-06-18 00:00:00
abstract::BACKGROUND Long non-coding RNAs (lncRNAs) have been implicated in various human cancer types. However, the underlying mechanisms involved in hepatocellular carcinoma (HCC) progression remain poorly understood. MATERIAL AND METHODS In this study, lncRNA array was used to identify HCC related lncRNAs. RNA immunoprecipit...
journal_title:Medical science monitor : international medical journal of experimental and clinical research
pub_type: 杂志文章
doi:10.12659/MSM.911179
更新日期:2018-11-25 00:00:00
abstract::BACKGROUND The ADRB2 gene encodes the ß2-adrenergic receptor (ß2-AR). This study aimed to determine the association between the C79G polymorphism of the ADRB2 gene and its association with pediatric asthma using a meta-analysis of the published data. MATERIAL AND METHODS Review of publications up to May 2018 was from ...
journal_title:Medical science monitor : international medical journal of experimental and clinical research
pub_type: 杂志文章,meta分析,评审
doi:10.12659/MSM.913780
更新日期:2019-05-30 00:00:00
abstract::BACKGROUND Recently, miR-146a C>G, miR- 149 T>C, miR-196a2 T>C and miR-499 A>G polymorphisms have been associated with susceptibility to many diseases, including ischemic stroke (IS). However, results have been reported inconsistency in IS, especially in the Chinese population. This study aimed to investigate the poly...
journal_title:Medical science monitor : international medical journal of experimental and clinical research
pub_type: 杂志文章
doi:10.12659/MSM.909935
更新日期:2018-10-15 00:00:00
abstract::BACKGROUND Er-Miao-San (EMS) is used in traditional Chinese medicine. This study aimed to investigate the effect of different elution fractions of EMS on acute inflammation induced by carrageenan in the rat paw and the possible mechanisms of action. MATERIAL AND METHODS Different aqueous fractions of EMS added to an A...
journal_title:Medical science monitor : international medical journal of experimental and clinical research
pub_type: 杂志文章
doi:10.12659/MSM.916977
更新日期:2019-10-23 00:00:00
abstract:BACKGROUND:Psychological disturbances are frequent in Crohn's disease (CD) patients. However, epidemiological studies of non-western CD populations are limited and may be confounded by genetic and disease-related influences. The aim of this study was to assess the prevalence and risk factors for depression and symptoms...
journal_title:Medical science monitor : international medical journal of experimental and clinical research
pub_type: 杂志文章
doi:
更新日期:2009-08-01 00:00:00
abstract:BACKGROUND:Although intrinsic skeletal muscle abnormalities can influence exercise intolerance during heart failure (HF), the factors responsible for muscle changes have not been elucidated. In this study we evaluated the expression of myogenic regulatory factors (MRF), myosin heavy chain (MyHC) isoforms, and fiber tro...
journal_title:Medical science monitor : international medical journal of experimental and clinical research
pub_type: 杂志文章
doi:
更新日期:2010-12-01 00:00:00
abstract:BACKGROUND:The elderly population is growing in Turkey, as it is worldwide. The average age of residents in rural areas of Turkey is relatively high and is gradually increasing. The purpose of this study is to summarize the fitness and frailty of elderly adults living in a rural area of Turkey characterized by a relati...
journal_title:Medical science monitor : international medical journal of experimental and clinical research
pub_type: 杂志文章
doi:10.12659/MSM.893400
更新日期:2015-04-30 00:00:00
abstract::BACKGROUND Let-7 microRNAs (miRNAs) have the effects of inhibiting tumor growth and metastasis, however, the research in nasopharyngeal carcinoma (NPC) is limited. This study focused on the effects of Let-7 on NPC migration and invasion and the mechanism of action. MATERIAL AND METHODS Plasmid transfection was used to...
journal_title:Medical science monitor : international medical journal of experimental and clinical research
pub_type: 杂志文章
doi:10.12659/MSM.914555
更新日期:2019-08-02 00:00:00
abstract:BACKGROUND:The evaluation of affected lymph node number, the site of metastatic lymph nodes, and spread of neoplastic infiltration beyond the lymph capsule is considered useful in prognosis. The aim of the study was to estimate the frequency of neck nodal metastases occurrence depending on the site of origin, the grade...
journal_title:Medical science monitor : international medical journal of experimental and clinical research
pub_type: 杂志文章
doi:
更新日期:2002-02-01 00:00:00
abstract::BACKGROUND Chronic spinal cord injury (CSCI) is a worldwide clinical problem. We aimed to reveal differentially expressed (DE) lncRNAs and to find associated pathways that may function as targets for CSCI therapy. MATERIAL AND METHODS After a CSCI rat model was confirmed by the Basso Beattie Bresnahan (BBB) scale and ...
journal_title:Medical science monitor : international medical journal of experimental and clinical research
pub_type: 杂志文章
doi:10.12659/MSM.911536
更新日期:2018-11-09 00:00:00