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// Dan Liu 1, * , Jiayu Liu 1, * , Guofeng Cui 2 , Haojie Yang 3 , Tuanping Cao 1 and Li Wang 1 1 Departement of Rheumatology and Immunology, Xi'an No.5 Hospital, Xi'an, Shaanxi, China 2 Department of Orthopedics, Luoyang Central Hospital Affiliated to Zhengzhou University, Luoyang, Henan, China 3 Department of Prevention and Health Care, Xi’an Jiaotong University Hospital, Xi’an, Shaanxi, China * These authors contributed equally to this work and joint first authors Correspondence to: Dan Liu, email: liudan7812@yeah.net Keywords: rheumatoid arthritis susceptibility, common variants, UBASH3A, SYNGR1, disease activity and severity Received: September 13, 2017 Accepted: October 03, 2017 Published: October 17, 2017 ABSTRACT Rheumatoid arthritis (RA) is a common complex autoimmune disorder. UBASH3A and SYNGR1 were identified recently as susceptibility genes for RA risk in Korean and European populations, but the genetic aetiology and pathogenesis of RA have not been fully elucidated. We designed a two-stage case-control study including 916 RA patients and 2,266 unrelated healthy controls to identify common genetic variants in UBASH3A and SYNGR1 that predispose Han Chinese individuals to RA. We also evaluated the role of associated variants in clinical manifestations of RA, which may provide clues to the mechanisms involved in the aetiology of RA. We successfully identified two SNPs, rs1893592 in UBASH3A and rs909685 in SYNGR1, as significantly associated with the disease status of RA using our two-stage strategy. The rs1893592 SNP in UBASH3A was related with DAS28, CRP level and bone erosion. In summary, our results indicate that genetic variants in UBASH3A and SYNGR1 may modify individual susceptibility to RA in the Han Chinese population and support the role of the UBASH3A gene in RA disease activity and severity.

This study aimed to investigate risk factors associated with breast cancer among Han Chinese women in northern and eastern China. A matched case-control study involving 1489 patients with breast cancer and 1489 controls was conducted across 21 hospitals in 11 provinces in China, from April 2012 to April 2013. We developed a structured questionnaire to record information from face-to-face interviews with participants. Student's t-tests, Pearson's chi-square tests, and univariate and multivariate conditional logistic regression analyses were used to identify variables with significant differences between the case and control groups. Ten variables were identified (P

// Man Wang 1, * , Jing-Zhan Zhang 2, * , Xiao-Jing Kang 2 , Li Li 1 , Xiao-Ling Huang 1 , Kuerbanjiang Aihemaijiang 1 , Aheman Ayinuer 1 , Yue-Xian Li 1 , Xiao-Lei He 1 and Feng Gao 1 1 Department of Gastroenterology, People’s Hospital of Xinjiang Uygur Autonomous Region, Urumqi, China 2 Department of Dermatology, People’s Hospital of Xinjiang Uygur Autonomous Region, Urumqi, China * These authors have contributed equally to this work Correspondence to: Feng Gao, email: drxjgf@sina.com Keywords: reflux esophagitis, gastroesophageal reflux disease questionnaire, endoscopy Received: December 27, 2016 Accepted: May 29, 2017 Published: August 10, 2017 ABSTRACT Gastroesophageal reflux disease questionnaire (GerdQ) was used to investigate the inpatients with typical reflux related symptoms in Gastroenterology. According to heartburn, regurgitation, abdominal pain, nausea, sleep disorders, whether taking over the counter (OTC) drugs 6 points to score. Using endoscopy as the gold standard for the diagnosis of reflux esophagitis (RE), and the results were compared with GerdQ score to determine the threshold value for RE, to analyze the distribution of GerdQ score for patients with RE, to assess the relationship between the GerdQ score and the severity of RE. A total of 1233 patients were enrolled in this study, including 538 patients had RE and 695 had not. There was statistical significance in the GerdQ score of RE group and non-RE group ( P

// Chenli Yue 1, 2, * , Miao Li 3, * , Chenxing Da 4 , Hongtao Meng 5 , Shaomin Lv 2 and Xinhan Zhao 1 1 Department of Internal Medicine Oncology, The First Affiliated Hospital of Xi’an Jiaotong University, Xi’an, Shaanxi 710061, China 2 Department of Respiratory Medicine, Shaanxi Provincial Crops Hospital of Chinese People’s Armed Police Force, Xi’an, Shaanxi 710054, China 3 Department of Internal Medicine Oncology, The Fifth People’s Hospital of Qinghai Province, Xining, Qinghai 810007, China 4 Department of Gastroenterology, Shaanxi Provincial Crops Hospital of Chinese People’s Armed Police Force, Xi’an, Shaanxi 710054, China 5 Medical Department, Shaanxi Provincial Crops Hospital of Chinese People’s Armed Police Force, Xi’an, Shaanxi 710054, China * These authors have contributed equally to this work Correspondence to: Xinhan Zhao, email: zhaoxinhanprof@163.com Keywords: esophageal cancer, genetic polymorphism, NAF1, han chinese, case-control Received: October 27, 2016 Accepted: February 17, 2017 Published: April 10, 2017 ABSTRACT We investigated whether single nucleotide polymorphisms (SNPs) in the nuclear assembly factor 1 ( NAF1 ) and TNFAIP3-interacting protein 1 ( TNIP1 ) gene were associated with susceptibility to esophageal cancer in a Chinese Han population. Five SNPs were genotyped and their relationship with esophageal cancer risk was analyzed in a sample of 386 esophageal cancer patients and 495 unrelated healthy controls recruited from the First Affiliated Hospital of Xi’an Jiaotong University. Patients with the AG genotype of rs2320615 were at lower risk of developing esophageal cancer than those with the GG genotype (adjusted odds ratio [OR] = 0.64, 95% confidence interval [CI] = 0.46-0.90, P = 0.009). The rs2320615 SNP was found to be associated with a decreased the risk of esophageal cancer in the dominant model (adjusted OR = 0.70, 95% CI = 0.51-0.96, P = 0.026). These results provide the first evidence that the rs2320615 in NAF1 was associated with reduced risk of esophageal cancer. Further studies with larger samples are warranted to confirm our findings.

// Yanhui Shi 1 , Weiyu Zhai 2 , Bin Wang 3 , Dongmei Zhao 1 , He Jin 4 , Yuefei Wang 3 , Jidong Zhang 1 , Hongjun An 1 , Zhongze Fu 1 , Kun Zhao 3 , Changzhu Lu 3 1 Department of Gastroenterology, The First Hospital of Qiqihar City, Qiqihar, Heilongjiang, China 2 Department of Pharmacy, The First Affiliated Hospital of Qiqihar Medical University, Qiqihar, Heilongjiang, China 3 Department of Physiology, Qiqihar Medical University, Qiqihar, Heilongjiang, China 4 Department of Cardiology, Hospital of Traditional Chinese Medicine of Qiqihar, Qiqihar, Heilongjiang, China Correspondence to: Changzhu Lu, email: changzhulu1998@163.com Keywords: hepatocellular carcinoma, human leukocyte antigen, non-synonymous polymorphism, genetic predisposition, Han Chinese Received: September 27, 2016 Accepted: October 28, 2016 Published: November 04, 2016 ABSTRACT Backgrounds and Objective: Mounting evidence suggests that human leukocyte antigen (HLA) plays a central role in anti-virus and tumor defense. To test whether genetic variation in HLA - DRB1 gene, a key component of HLA system, can predict its predisposition to hepatocellular carcinoma (HCC), we thereby conducted an association study by genotyping 8 nonsynonymous polymorphisms in HLA - DRB1 gene among 257 HCC patients and 264 controls. Results: All polymorphisms respected the Hardy-Weinberg equilibrium. The genotypes and alleles of rs17879599 differed significantly between patients and controls after Bonferroni correction (both P < 0.001), and the power to detect this significance was 94.4%. After adjusting for age, gender, smoking, drinking and hepatitis infection, the mutant allele of rs17879702 was significantly associated with an increased risk for HCC under additive (odds ratio [OR] = 2.12, 95% confidence interval [CI]: 1.20-4.02, P = 0.004) and dominant (OR = 2.51, 95% CI: 1.39–2.96, P = 0.004) models. Haplotype analysis indicated that haplotype A-T-C-T-G-C-T-A (alleles ordered by rs199514452, rs201540428, rs201614260, rs17879702, rs17880292, rs17879599, rs17424145 and rs35445101) was overrepresented in patients and enhanced predisposition to HCC (adjusted OR = 2.72, 95% CI: 1.24–5.78, P = 0.004). In cumulative analysis, carriers of 7–9 unfavorable alleles had a 2.41-fold (95% CI: 1.18–4.92, P = 0.016) increased risk for HCC after adjusting for confounding factors relative to those possessing 4 or less unfavorable alleles. Materials and Methods: Genotypes were determined by ligase detection reaction. HCC patients were newly diagnosed, histopathologically confirmed or previously untreated and controls were cancer-free. Conclusions: Our findings suggest an independent leading contribution of rs17879599 in the 2nd exon of HLA-DRB1 gene to HCC risk in Han Chinese.

// Yong Zhu 1, * , Shunan Li 2, * , FangLin Niu 3 , Mengdan Yan 3 , Jing Li 3 , Haiyu Jia 4 and Xuejun Yang 1 1 The Second Affiliated Hospital of Inner Mongolia Medical University, Hohhot 010030, China 2 The Hohhot First Hospital, Hohhot 010020, China 3 Key Laboratory of Resource Biology and Biotechnology in Western China (Northwest University), Ministry of Education, Xi’an 710069, China 4 The Affiliated Hospital of Inner Mongolia Medical University, Hohhot 010020, China * These authors have contributed equally to this work Correspondence to: Xuejun Yang, email: yangxjhohhot@163.com Haiyu Jia, email: nmjiahaiyu@qq.com Keywords: lumbar disc disease (LDD), IL4, IL6, Han Chinese, case-control Received: July 13, 2017 Accepted: August 27, 2017 Published: October 06, 2017 ABSTRACT Lumbar disc disease (LDD) is a common musculoskeletal disorder, caused by degeneration of intervertebral discs of the lumbar spine and is one of the most common musculoskeletal disorders affliction in adult. There is growing evidence that LDD has strong genetic determinants. We analyze whether the IL4 and IL6 gene polymorphism is related to LDD in Chinese Han population. The participants were 498 with LDD and 463 without LDD. IL4 and IL6 gene polymorphism were determined by Sequenom MassARRAY. We found that SNPs rs1800796(OR = 1.29, 95% CI, 1.07 – 1.57, p = 0.009), rs1524107(OR = 1.28, 95% CI, 1.05 – 1.55, p = 0.013), rs2069840 (OR = 1.39, 95% CI, 1.03 – 1.89, p = 0.033) in IL6 gene were significantly associated with LDD risk at a 5% level. In addition, genetic models found IL4 gene (rs2243250) were associated with LDD. In this study, we analyzed and associated SNPs of IL4 and IL6 with LDD risk. In summary, four variations (rs1800796, rs1524107, rs2069840, rs2243250) of the selected candidate SNPs were associated with susceptibility to LDD in our study. The results of this study have the guiding significance in clinical work in the future in the treatment of lumbar disc herniation patients, not one-sided that the symptoms of low back pain only from mechanical oppression.

// Hao Rong 1, 2, 3, * , Xue He 1, 2, 3, * , Li Wang 1, 2, 3, Yongjun He 1, 2, 3 , Longli Kang 1, 2, 3 and Tianbo Jin 1, 2, 3 1 Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi 712082, China 2 Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi 712082, China 3 Key Laboratory for Basic Life Science Research of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi 712082, China * Joint first authors Correspondence to: Tianbo Jin, email: jintianbo@gmail.com Keywords: renal cell carcinoma, IL4, Han Chinese, gene polymorphism Received: April 20, 2017 Accepted: May 15, 2017 Published: June 09, 2017 ABSTRACT Renal cell carcinoma (RCC) is considered to be a kind of cytokine reactive tumor. The research has been suggested that the host immune system can regulate the clinical course of RCC. Therefore, cytokine gene polymorphisms in RCC patients were analyzed was necessary. Our study is purpose to analyzing the interleukin-4(IL-4) polymorphisms associated with RCC risk from Han Chinese population. IL-4 genetic polymorphisms were genotyped using Massarray technology from a total of 291RCC and 463 controls. Unconditional logistic regression analysis was performed to analyze their relationship with risk of RCC. A significant association was found between the rs2243250 “C” allel and decreased risk of RCC (OR=0.75, 95%CI=0.59-0.96, P=0.02). Stratified analysis based on the age, gender, smoking status, drinking status revealed no significant association with RCC in age>55, female, smoking and nodrinking. However, for age

// Rui Liu 1, * , Lifeng Ning 1, 2, * , Xiaoli Liu 3 , Huiping Zhang 4 , Yaqin Yu 1 , Shangchao Zhang 1 , Wenwang Rao 1 , Jieping Shi 1 , Hui Sun 3 , Qiong Yu 1 1 Department of Epidemiology and Biostatistics, School of Public Health, Jilin University, Changchun 130021, China 2 National Research Institute for Family Planning, Beijing 100081, China 3 Jilin Provincial Key Laboratory of Surgical Translational Medicine, China-Japan Union Hospital, Jilin University, Changchun 130033, China 4 Department of Psychiatry, Yale University School of Medicine, New Haven, CT 06511, USA * These authors have contributed equally to this work Correspondence to: Qiong Yu, email: yuqiong@jlu.edu.cn Keywords: papillary thyroid carcinoma, nodular goiter, VEGFA, SNPs, Han Chinese Received: September 01, 2016 Accepted: January 06, 2017 Published: February 02, 2017 ABSTRACT The aim of the present study was to investigate whether genetic variants in the vascular endothelial growth factor A gene ( VEGFA ) were risk factors for papillary thyroid carcinoma (PTC) or nodular goiter (NG) in Han Chinese. A total of 2,319 subjects (861 PTC patients, 562 NG patients, and 896 healthy controls) were included. Five tag single nucleotide polymorphisms (tagSNPs: rs3024997, rs3025040, rs833070, rs25648, and rs10434) in VEGFA were genotyped. SNP rs3025040 T allele was associated with a decreased risk of NG ( P

// Yongqiang Wang 1, 2, * , Yuan Yu 3, * , Rui Ye 3, * , Duo Zhang 3, * , Qiaoling Li 3 , Dan An 3 , Lu Fang 4 , Youcheng Lin 5 , Yong Hou 3 , Abai Xu 5 , Yu Fu 6 , Wei Lu 4 , Xin Chen 1 , Mingwei Chen 4 , Meng Zhang 4 , Huiling Jiang 7 , Chuanxia Zhang 8 , Pei Dong 1 , Chong Li 9 , Jun Chen 10 , Guosheng Yang 6 , Chunxiao Liu 5 , Zhiming Cai 11 , Fangjian Zhou 1 , Song Wu 2, 11 1 Department of Urology, Sun Yat-sen University Cancer Center, Collaborative Innovation Center for Cancer Medicine, State Key Laboratory of Oncology in South China, Guangzhou, 510060, China 2 The Affiliated Luohu Hospital of Shenzhen University, Shenzhen Luohu Hospital Group, Shenzhen 518000, China 3 BGI-Shenzhen, Shenzhen 518083, China 4 Anhui Medical University, Hefei 230032, China 5 Department of Urology, Zhujiang Hospital of Southern Medical University, Guangzhou 510280, China 6 The Second People’s Hospital of Guangdong Province, Guangzhou 510310, China 7 The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou 510080, China 8 Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou 510080, China 9 CAS Key Laboratory of Infection and Immunity, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China 10 The Third Affiliated Hospital, Sun Yat-Sen University, Guangzhou 510630, China 11 Department of Urological Surgery, Shenzhen Second People’s Hospital, The First Affiliated Hospital of Shenzhen University, Shenzhen 518000, China * These authors contributed equally to this work Correspondence to: Song Wu, e-mail: doctor_wusong@126.com Fangjian Zhou, e-mail: zhoufj@sysucc.org.cn Keywords: bladder cancer, epigenetics, methylation, biomarkers, qMSP Received: May 07, 2015 Accepted: November 20, 2015 Published: December 19, 2015 ABSTRACT To develop a routine and effectual procedure of detecting bladder cancer (BlCa), an optimized combination of epigenetic biomarkers that work synergistically with high sensitivity and specificity is necessary. In this study, methylation levels of seven biomarkers ( EOMES , GDF15 , NID2 , PCDH17 , POU4F2 , TCF21 , and ZNF154 ) in 148 individuals—which including 58 urothelial cell carcinoma (UCC) patients, 20 infected urinary calculi (IUC) patients, 20 kidney cancer (KC) patients,20 prostate cancer (PC) patients, and 30 healthy volunteers (HV)—were quantified by qMSP using the urine sediment DNA. Receiver operating characteristic (ROC) curves were generated for each biomarker. The combining predictors of possible combinations were calculated through logistic regression model. Subsequently, ROC curves of the three best performing combinations were constructed. Then, we validated the three best performing combinations and POU4F2 in another 72 UCC, 21 IUC, 26 KC and 22 PC, and 23 HV urine samples. The combination of POU4F2/PCDH17 has yielded the highest sensitivity and specificity of 90.00% and 93.96% in all the 312 individuals, showing the capability of detecting BlCa effectively among pathologically varied sample groups.