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4. Genome‐wide meta‐analysis and fine‐mapping prioritize potential causal variants and genes related to leprosy

Author

Wang, Zhenzhen, primary, Liu, Tingting, additional, Li, Wenchao, additional, Yu, Gongqi, additional, Mi, Zihao, additional, Wang, Chuan, additional, Liao, Xiaojie, additional, Huai, Pengcheng, additional, Chu, Tongsheng, additional, Liu, Dianchang, additional, Sun, Lele, additional, Fu, Xi'an, additional, Sun, Yonghu, additional, Wang, Honglei, additional, Wang, Na, additional, Liu, Jianjun, additional, Liu, Hong, additional, and Zhang, Furen, additional

Published
2023
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7. Genome-Wide Analysis of Protein-Coding Variants in Leprosy

Author

Liu, Hong, Wang, Zhenzhen, Li, Yi, Yu, Gongqi, Fu, Xi’an, Wang, Chuan, Liu, Wenting, Yu, Yongxiang, Bao, Fangfang, Irwanto, Astrid, Liu, Jian, Chu, Tongsheng, Andiappan, Anand Kumar, Maurer-Stroh, Sebastian, Limviphuvadh, Vachiranee, Wang, Honglei, Mi, Zihao, Sun, Yonghu, Sun, Lele, Wang, Ling, Wang, Chaolong, You, Jiabao, Li, Jinghui, Foo, Jia Nee, Liany, Herty, Meah, Wee Yang, Niu, Guiye, Yue, Zhenhua, Zhao, Qing, Wang, Na, Yu, Meiwen, Yu, Wenjun, Cheng, Xiujun, Khor, Chiea Chuen, Sim, Kar Seng, Aung, Tin, Wang, Ningli, Wang, Deyun, Shi, Li, Ning, Yong, Zheng, Zhongyi, Yang, Rongde, Li, Jinlan, Yang, Jun, Yan, Liangbin, Shen, Jianping, Zhang, Guocheng, Chen, Shumin, Liu, Jianjun, and Zhang, Furen

Published
2017
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9. Prevalence, risk factors, and medical costs of Chlamydia trachomatis infections in Shandong Province, China: a population-based, cross-sectional study

Author

Huai, Pengcheng, Li, Furong, Li, Zhen, Sun, Lele, Fu, Xi’an, Pan, Qing, Yu, Gongqi, Chai, Zemin, Chu, Tongsheng, Mi, Zihao, Bao, Fangfang, Wang, Honglei, Zhou, Bingni, Wang, Chuan, Sun, Yonghu, Niu, Guiye, Zhang, Yuan, Fu, Fanghui, Lang, Xiaoqiao, Wang, Xiaoling, Zhao, Hui, Liu, Daina, Liu, Hong, Liu, Dianchang, Liu, Jian, Xu, Aiqiang, and Zhang, Furen

Published
2018
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13. Failure to detect Mycobacterium lepromatosis as a cause of leprosy in 85 Chinesepatients

Author

Zhang, Yan, Sun, Yong, Wang, Chuan, Liu, Dan, Chen, Mingfei, Fu, Xi'An, Zhou, Guizhi, Liu, Hong, and Zhang, Furen

Subjects
Mycobacterium leprae -- Identification and classification -- Health aspects, Leprosy -- Causes of -- Diagnosis, Health
Abstract

Byline: Yan. Zhang, Yong. Sun, Chuan. Wang, Dan. Liu, Mingfei. Chen, Xi'an. Fu, Guizhi. Zhou, Hong. Liu, Furen. Zhang Sir, Leprosy was long believed to be caused by a single [...]

Published
2015

16. Seroprevalence and associated factors of HSV-2 infection among general population in Shandong Province, China

Author

Huai, Pengcheng, primary, Li, Furong, additional, Li, Zhen, additional, Sun, Lele, additional, Fu, Xi’an, additional, Pan, Qing, additional, Yu, Gongqi, additional, Chai, Zemin, additional, Chu, Tongsheng, additional, Mi, Zihao, additional, Bao, Fangfang, additional, Wang, Honglei, additional, Zhou, Bingni, additional, Wang, Chuan, additional, Sun, Yonghu, additional, Niu, Guiye, additional, Zhang, Yuan, additional, Fu, Fanghui, additional, Lang, Xiaoqiao, additional, Wang, Xiaoling, additional, Zhao, Hui, additional, Liu, Daina, additional, Liu, Hong, additional, Liu, Dianchang, additional, Liu, Jian, additional, Xu, Aiqiang, additional, and Zhang, Furen, additional

Published
2019
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19. Prediction of leprosy in the Chinese population based on a weighted genetic risk score

Author

Wang, Na, primary, Wang, Zhenzhen, additional, Wang, Chuan, additional, Fu, Xi'an, additional, Yu, Gongqi, additional, Yue, Zhenhua, additional, Liu, Tingting, additional, Zhang, Huimin, additional, Li, Lulu, additional, Chen, Mingfei, additional, Wang, Honglei, additional, Niu, Guiye, additional, Liu, Dan, additional, Zhang, Mingkai, additional, Xu, Yuanyuan, additional, Zhang, Yan, additional, Li, Jinghui, additional, Li, Zhen, additional, You, Jiabao, additional, Chu, Tongsheng, additional, Li, Furong, additional, Liu, Dianchang, additional, Liu, Hong, additional, and Zhang, Furen, additional

Published
2018
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20. Evaluation of ProspectiveHLA-B*13:01Screening to Prevent Dapsone Hypersensitivity Syndrome in Patients With Leprosy

Author

Liu, Hong, Wang, Zhenzhen, Bao, Fangfang, Wang, Chuan, Sun, Lele, Zhang, Huimin, Yu, Gongqi, Mi, Zihao, Li, Jianke, Li, Lulu, Zhao, Qing, Yue, Zhenhua, Zhao, Wei, Yu, Wenjun, Cao, Jing, Xiong, Fei, Wang, Yaru, Chai, Zemin, Cheng, Xiujun, Zhang, Yuan, Fu, Fanghui, Lang, Xiaoqiao, Wang, Xiaoling, Irwanto, Astrid, Krismawati, Hana, Fu, Xi’an, Sun, Yonghu, You, Jiabao, Liu, Jian, Pan, Qing, Chu, Tongsheng, Liu, Dianchang, Chen, Shumin, Shen, Jianping, Yan, Liangbin, Zhang, Guocheng, Liu, Jianjun, Zhang, Furen, Xiong, Li, Yang, Jun, Li, Jinlan, Ke, Wei, Li, Ming, Ning, Yong, Xiong, Junhao, Xiong, Mingzhou, Yang, Bin, Duan, Qizhi, Wang, Hong, Li, Wei, Kuang, Yanfei, Li, Junhua, Wang, Lamei, Cao, Qiuyang, Xiao, Peng, Xiao, Bangzhong, Zhang, Lianhua, Lin, Zhaoxing, Wang, Yaofei, Shen, Yunliang, Yan, Liying, Wu, Wenbin, Zheng, Hu, Zhan, Xianfa, Li, Wanghua, Shang, Xiujian, Xu, Yujun, and Liu, Qiao

Subjects
medicine.medical_specialty, business.industry, Standard treatment, Incidence (epidemiology), Dermatology, Dapsone, medicine.disease, Clofazimine, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, Internal medicine, medicine, Leprosy, Prospective cohort study, Adverse effect, business, Rifampicin, Original Investigation, medicine.drug
Abstract

IMPORTANCE: Dapsone hypersensitivity syndrome (DHS) is the most serious adverse reaction associated with dapsone administration and one of the major causes of death in patients with leprosy, whose standard treatment includes multidrug therapy (MDT) with dapsone, rifampicin, and clofazimine. Although the HLA-B*13:01 polymorphism has been identified as the genetic determinant of DHS in the Chinese population, no studies to date have been done to evaluate whether prospective HLA-B*13:01 screening could prevent DHS by identifying patients who should not receive dapsone. OBJECTIVE: To evaluate the clinical use of prospective HLA-B*13:01 screening for reduction of the incidence of DHS by excluding dapsone from the treatment for patients with HLA-B*13:01–positive leprosy. DESIGN, SETTING, AND PARTICIPANTS: A prospective cohort study was conducted from February 15, 2015, to April 30, 2018, in 21 provinces throughout China. A total of 1539 patients with newly diagnosed leprosy were enrolled who had not received dapsone previously. After excluding patients who had a history of allergy to sulfones or glucose-6-phosphate dehydrogenase deficiency, 1512 individuals underwent HLA-B*13:01 genotyping. All of the patients were followed up weekly for the first 8 weeks after treatment to monitor for adverse events. EXPOSURES: Patients who were HLA-B*13:01 carriers were instructed to eliminate dapsone from their treatment regimens, and noncarrier patients received standard MDT. MAIN OUTCOMES AND MEASURES: The primary outcome was the incidence of DHS. The historical incidence rate of DHS (1.0%) was used as a control. RESULTS: Among 1512 patients (1026 [67.9%] men, 486 [32.1%] women; mean [SD] age, 43.1 [16.2] years), 261 (17.3%) were identified as carriers of the HLA-B*13:01 allele. A total of 714 adverse events in 384 patients were observed during the follow-up period. Dapsone hypersensitivity syndrome did not develop in any of the 1251 patients who were HLA-B*13:01–negative who received dapsone, while approximately 13 patients would be expected to experience DHS, based on the historical incidence rate of 1.0% per year (P = 2.05 × 10(−5)). No significant correlation was found between other adverse events, including dermatologic or other events, and HLA-B*13:01 status. CONCLUSIONS AND RELEVANCE: Prospective HLA-B*13:01 screening and subsequent elimination of dapsone from MDT for patients with HLA-B*13:01–positive leprosy may significantly reduce the incidence of DHS in the Chinese population.

Published
2019

23. Identification of PTPN22 ,ST6GAL1 and JAZF1 as psoriasis risk genes demonstrates shared pathogenesis between psoriasis and diabetes

Author

Wang, Honglei, primary, Wang, Zhenzhen, additional, Rani, Parimi Leela, additional, Fu, Xi'an, additional, Yu, Wenjun, additional, Bao, Fangfang, additional, Yu, Gongqi, additional, Li, Jianke, additional, Li, Lulu, additional, Sun, Lele, additional, Yue, Zhenhua, additional, Zhao, Qing, additional, Pan, Qing, additional, Cao, Jing, additional, Wang, Chuan, additional, Chi, Xiaojun, additional, Wang, Yaru, additional, Yang, Qing, additional, Mi, Zihao, additional, Liu, Hong, additional, and Zhang, Furen, additional

Published
2017
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24. A large-scale genome-wide association and meta-analysis identified four novel susceptibility loci for leprosy

Author

Wang, Zhenzhen, primary, Sun, Yonghu, additional, Fu, Xi’an, additional, Yu, Gongqi, additional, Wang, Chuan, additional, Bao, Fangfang, additional, Yue, Zhenhua, additional, Li, Jianke, additional, Sun, Lele, additional, Irwanto, Astrid, additional, Yu, Yongxiang, additional, Chen, Mingfei, additional, Mi, Zihao, additional, Wang, Honglei, additional, Huai, Pengcheng, additional, Li, Yi, additional, Du, Tiantian, additional, Yu, Wenjun, additional, Xia, Yang, additional, Xiao, Hailu, additional, You, Jiabao, additional, Li, Jinghui, additional, Yang, Qing, additional, Wang, Na, additional, Shang, Panpan, additional, Niu, Guiye, additional, Chi, Xiaojun, additional, Wang, Xiuhuan, additional, Cao, Jing, additional, Cheng, Xiujun, additional, Liu, Hong, additional, Liu, Jianjun, additional, and Zhang, Furen, additional

Published
2016
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25. Prediction of leprosy in the Chinese population based on a weighted genetic risk score.

Author

Fu, Xi'an, Wang, Na, Yue, Zhenhua, Wang, Honglei, Niu, Guiye, Li, Jinghui, Li, Zhen, You, Jiabao, Liu, Hong, Zhang, Furen, Chen, Mingfei, Li, Furong, Wang, Zhenzhen, Wang, Chuan, Yu, Gongqi, Liu, Tingting, Zhang, Huimin, Li, Lulu, Liu, Dan, and Zhang, Mingkai

Subjects
*HANSEN'S disease, *GENETICS, *PREDICTION models, *ACCURACY, *POPULATION, *DISEASE risk factors, RISK factors
Abstract

Genome wide association studies (GWASs) have revealed multiple genetic variants associated with leprosy in the Chinese population. The aim of our study was to utilize the genetic variants to construct a risk prediction model through a weighted genetic risk score (GRS) in a Chinese set and to further assess the performance of the model in identifying higher-risk contact individuals in an independent set. The highest prediction accuracy, with an area under the curve (AUC) of 0.743 (95% confidence interval (CI): 0.729–0.757), was achieved with a GRS encompassing 25 GWAS variants in a discovery set that included 2,144 people affected by leprosy and 2,671 controls. Individuals in the high-risk group, based on genetic factors (GRS > 28.06), have a 24.65 higher odds ratio (OR) for developing leprosy relative to those in the low-risk group (GRS≤18.17). The model was then applied to a validation set consisting of 1,385 people affected by leprosy and 7,541 individuals in contact with leprosy, which yielded a discriminatory ability with an AUC of 0.707 (95% CI: 0.691–0.723). When a GRS cut-off value of 22.38 was selected with the optimal sensitivity and specificity, it was found that 39.31% of high risk contact individuals should be screened in order to detect leprosy in 64.9% of those people affected by leprosy. In summary, we developed and validated a risk model for the prediction of leprosy that showed good discrimination capabilities, which may help physicians in the identification of patients coming into contact with leprosy and are at a higher-risk of developing this condition. [ABSTRACT FROM AUTHOR]

Published
2018
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26. The HLA Alleles B*0801 and DRB1*0301 Are Associated with Dermatitis Herpetiformis in a Chinese Population

Author

Sun, Yonghu, primary, Lin, Yan, additional, Yang, Baoqi, additional, Wang, Chuan, additional, Fu, Xi’an, additional, Bao, Fangfang, additional, Yu, Gongqi, additional, Zhang, Qilin, additional, Wang, Zhenzhen, additional, Zhou, Guizhi, additional, Chen, Xuechao, additional, Wu, Mei, additional, Wang, Guangjin, additional, Liu, Hong, additional, Liu, Jianjun, additional, and Zhang, Furen, additional

Published
2016
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27. Identification of PTPN22, ST6 GAL1 and JAZF1 as psoriasis risk genes demonstrates shared pathogenesis between psoriasis and diabetes.

Author

Wang, Honglei, Wang, Zhenzhen, Rani, Parimi Leela, Fu, Xi'an, Yu, Wenjun, Bao, Fangfang, Yu, Gongqi, Li, Jianke, Li, Lulu, Sun, Lele, Yue, Zhenhua, Zhao, Qing, Pan, Qing, Cao, Jing, Wang, Chuan, Chi, Xiaojun, Wang, Yaru, Yang, Qing, Mi, Zihao, and Liu, Hong

Subjects
DISEASE risk factors, PSORIASIS, GENETICS of diabetes, EPIDEMIOLOGICAL research, IMMUNOLOGY, DISEASE susceptibility
Abstract

The biological connections between psoriasis and diabetes have been suggested by epidemiological, immunological and genetic studies. To identify additional shared susceptibility loci and investigate shared pathogenesis between these two diseases, we genotyped 89 reported diabetes susceptibility loci in 4456 psoriasis cases and 6027 controls of Chinese population using the Mass ARRAY system from Sequenom. We discovered three significant associations at rs6679677 on 1p13.2 ( P=6.15×10−5, OR=5.07), rs16861329 on 3q27.3 ( P=2.02×10−4, OR=0.87) and rs849135 on 7p15.1 ( P=6.59×10−9, OR=1.78), which suggested PTPN22, ST6 GAL1 and JAZF1 as novel susceptibility genes for psoriasis in Chinese population. Our findings implicated the involvement of T-cell receptor signalling pathway in the pathogenesis of psoriasis and further confirmed the shared genetic susceptibility between psoriasis and diabetes. [ABSTRACT FROM AUTHOR]

Published
2017
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28. Evaluation of Prospective HLA-B*13:01 Screening to Prevent Dapsone Hypersensitivity Syndrome in Patients With Leprosy

Author

Liu, Hong, Wang, Zhenzhen, Bao, Fangfang, Wang, Chuan, Sun, Lele, Zhang, Huimin, Yu, Gongqi, Mi, Zihao, Li, Jianke, Li, Lulu, Zhao, Qing, Yue, Zhenhua, Zhao, Wei, Yu, Wenjun, Cao, Jing, Xiong, Fei, Wang, Yaru, Chai, Zemin, Cheng, Xiujun, Zhang, Yuan, Fu, Fanghui, Lang, Xiaoqiao, Wang, Xiaoling, Irwanto, Astrid, Krismawati, Hana, Fu, Xi’an, Sun, Yonghu, You, Jiabao, Liu, Jian, Pan, Qing, Chu, Tongsheng, Liu, Dianchang, Chen, Shumin, Shen, Jianping, Yan, Liangbin, Zhang, Guocheng, Liu, Jianjun, Zhang, Furen, Xiong, Li, Yang, Jun, Li, Jinlan, Ke, Wei, Li, Ming, Ning, Yong, Xiong, Junhao, Li, Ming, Xiong, Mingzhou, Yang, Bin, Duan, Qizhi, Wang, Hong, Li, Wei, Kuang, Yanfei, Li, Junhua, Wang, Lamei, Cao, Qiuyang, Xiao, Peng, Xiao, Bangzhong, Zhang, Lianhua, Lin, Zhaoxing, Wang, Yaofei, Shen, Yunliang, Yan, Liying, Wu, Wenbin, Zheng, Hu, Zhan, Xianfa, Li, Wanghua, Shang, Xiujian, Xu, Yujun, and Liu, Qiao

Abstract

IMPORTANCE: Dapsone hypersensitivity syndrome (DHS) is the most serious adverse reaction associated with dapsone administration and one of the major causes of death in patients with leprosy, whose standard treatment includes multidrug therapy (MDT) with dapsone, rifampicin, and clofazimine. Although the HLA-B*13:01 polymorphism has been identified as the genetic determinant of DHS in the Chinese population, no studies to date have been done to evaluate whether prospective HLA-B*13:01 screening could prevent DHS by identifying patients who should not receive dapsone. OBJECTIVE: To evaluate the clinical use of prospective HLA-B*13:01 screening for reduction of the incidence of DHS by excluding dapsone from the treatment for patients with HLA-B*13:01–positive leprosy. DESIGN, SETTING, AND PARTICIPANTS: A prospective cohort study was conducted from February 15, 2015, to April 30, 2018, in 21 provinces throughout China. A total of 1539 patients with newly diagnosed leprosy were enrolled who had not received dapsone previously. After excluding patients who had a history of allergy to sulfones or glucose-6-phosphate dehydrogenase deficiency, 1512 individuals underwent HLA-B*13:01 genotyping. All of the patients were followed up weekly for the first 8 weeks after treatment to monitor for adverse events. EXPOSURES: Patients who were HLA-B*13:01 carriers were instructed to eliminate dapsone from their treatment regimens, and noncarrier patients received standard MDT. MAIN OUTCOMES AND MEASURES: The primary outcome was the incidence of DHS. The historical incidence rate of DHS (1.0%) was used as a control. RESULTS: Among 1512 patients (1026 [67.9%] men, 486 [32.1%] women; mean [SD] age, 43.1 [16.2] years), 261 (17.3%) were identified as carriers of the HLA-B*13:01 allele. A total of 714 adverse events in 384 patients were observed during the follow-up period. Dapsone hypersensitivity syndrome did not develop in any of the 1251 patients who were HLA-B*13:01–negative who received dapsone, while approximately 13 patients would be expected to experience DHS, based on the historical incidence rate of 1.0% per year (P = 2.05 × 10−5). No significant correlation was found between other adverse events, including dermatologic or other events, and HLA-B*13:01 status. CONCLUSIONS AND RELEVANCE: Prospective HLA-B*13:01 screening and subsequent elimination of dapsone from MDT for patients with HLA-B*13:01–positive leprosy may significantly reduce the incidence of DHS in the Chinese population.

Published
2019
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30. Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population

Author

Zhang, Jia, primary, Tong, Hanxing, additional, Fu, Xi’an, additional, Zhang, Yong, additional, Liu, Jiangbo, additional, Cheng, Ruhong, additional, Liang, Jianying, additional, Peng, Jie, additional, Sun, Zhonghui, additional, Liu, Hong, additional, Zhang, Furen, additional, Lu, Weiqi, additional, Li, Ming, additional, and Yao, Zhirong, additional

Published
2015
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34. Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy

Author

Liu, Hong, primary, Irwanto, Astrid, additional, Fu, Xi'an, additional, Yu, Gongqi, additional, Yu, Yongxiang, additional, Sun, Yonghu, additional, Wang, Chuan, additional, Wang, Zhenzhen, additional, Okada, Yukinori, additional, Low, Huiqi, additional, Li, Yi, additional, Liany, Herty, additional, Chen, Mingfei, additional, Bao, Fangfang, additional, Li, Jinghui, additional, You, Jiabao, additional, Zhang, Qilin, additional, Liu, Jian, additional, Chu, Tongsheng, additional, Andiappan, Anand Kumar, additional, Wang, Na, additional, Niu, Guiye, additional, Liu, Dianchang, additional, Yu, Xiulu, additional, Zhang, Lin, additional, Tian, Hongqing, additional, Zhou, Guizhi, additional, Rotzschke, Olaf, additional, Chen, Shumin, additional, Zhang, Xuejun, additional, Liu, Jianjun, additional, and Zhang, Furen, additional

Published
2015
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35. Variant Analysis of CARD14 in a Chinese Han Population with Psoriasis Vulgaris and Generalized Pustular Psoriasis

Author

Qin, Peipei, primary, Zhang, Qilin, additional, Chen, Mingfei, additional, Fu, Xi'an, additional, Wang, Chuan, additional, Wang, Zhenzhen, additional, Yu, Gongqi, additional, Yu, Yongxiang, additional, Li, Xiuyan, additional, Sun, Yonghu, additional, Wu, Weizhi, additional, Yang, Baoqi, additional, Liu, Hong, additional, and Zhang, Furen, additional

Published
2014
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38. Analysis of POFUT1 Gene Mutation in a Chinese Family with Dowling-Degos Disease

Author

Chen, Mingfei, primary, Li, Yi, additional, Liu, Hong, additional, Fu, Xi'an, additional, Yu, Yiongxiang, additional, Yu, Gongqi, additional, Wang, Chuan, additional, Bao, Fangfang, additional, Liany, Herty, additional, Wang, Zhenzhen, additional, Shi, Zhongxiang, additional, Zhang, Dizhan, additional, Zhou, Guizhi, additional, Liu, Jianjun, additional, and Zhang, Furen, additional

Published
2014
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39. Identification of the BTN3A3Gene as a Molecule Implicated in Generalized Pustular Psoriasis in a Chinese Population

Author

Zhang, Qilin, Shi, Peidian, Wang, Zhenzhen, Sun, Lele, Li, Wenchao, Zhao, Qing, Liu, Tingting, Pan, Qing, Sun, Yuanhang, Jia, Fengming, Chen, Wenjie, Fu, Xi’an, Yu, Gongqi, Bao, Fangfang, Mi, Zihao, Wang, Chuan, Sun, Yonghu, Li, Bingqing, Liu, Jianjun, Liu, Hong, Gu, Heng, and Zhang, Furen

Abstract

The discovery of pathogenic variants provided biological insight into the role of host genetic factors in generalized pustular psoriasis (GPP). However, not all those affected by GPP carry variants in the reported genes. To comprehensively explore the molecular pathogenesis of GPP, whole-exome sequencing was performed, and two loci were identified with exome-wide significance through single variant association analysis: rs148755083 in the IL36RNgene (Pcombined = 1.19 × 10−18, OR = 8.26) and HLA-C∗06:02within the major histocompatibility complex region (Pcombined = 8.38 × 10−12, OR = 2.98). Gene burden testing revealed that BTN3A3correlated with GPP (Pcombined = 1.14 × 10−10, OR = 5.59). Subtype analysis showed that IL36RNand BTN3A3were both significantly associated with GPP alone and GPP with psoriasis vulgaris, whereas a correlation with HLA-C∗06:02was only observed in GPP with psoriasis vulgaris. Functional analysis revealed that BTN3A3 regulated cell proliferation and inflammatory balance in GPP. In particular, loss of function of BTN3A3 activated NF-κB and promoted the production of inflammatory cytokines by inhibiting IL-36Ra expression to disturb the IL-1/IL-36 inflammatory axis and enhance the TNF-α−mediated pathway. Our findings identify BTN3A3as, to our knowledge, a previously unreported pathogenic determinant, expanding our understanding of the genetic basis of GPP.

Published
2023
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40. Analysis of POFUT1 Gene Mutation in a Chinese Family with Dowling-Degos Disease.

Author

Chen, Mingfei, Li, Yi, Liu, Hong, Fu, Xi'an, Yu, Yiongxiang, Yu, Gongqi, Wang, Chuan, Bao, Fangfang, Liany, Herty, Wang, Zhenzhen, Shi, Zhongxiang, Zhang, Dizhan, Zhou, Guizhi, Liu, Jianjun, and Zhang, Furen

Subjects
GENETIC mutation, SKIN disease genetics, CHINESE people, GENETIC disorders, HUMAN skin color, NUCLEOTIDE sequence, DISEASES
Abstract

Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmented anomaly mainly affecting flexures. Though KRT5 has been identified to be the causal gene of DDD, the heterogeneity of this disease was displayed: for example, POFUT1 and POGLUT1 were recently identified and confirmed to be additional pathogenic genes of DDD. To identify other DDD causative genes, we performed genome-wide linkage and exome sequencing analyses in a multiplex Chinese DDD family, in which the KRT5 mutation was absent. Only a novel 1-bp deletion (c.246+5delG) in POFUT1 was found. No other novel mutation or this deletion was detected in POFUT1 in a second DDD family and a sporadic DDD case by Sanger Sequencing. The result shows the genetic-heterogeneity and complexity of DDD and will contribute to the further understanding of DDD genotype/phenotype correlations and to the pathogenesis of this disease. [ABSTRACT FROM AUTHOR]

Published
2014
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43. Three novel mutations of the ATP2A2 gene in Chinese patients with Darier disease.

Author

Zhao, Qing, Fu, Fanghui, Fu, Xi'an, Wang, Zhenzhen, Liu, Hong, and Zhang, Furen

Subjects
EPIDERMOLYSIS bullosa, GENES, MEDICAL sciences, DISEASES
Abstract

The article presents a study on the mutations of the ATP2A2 gene in Chinese patients with Darier disease. Topics discussed include information on the Darier disease as a rare autosomal dominant genodermatosis with almost complete penetrance, characterized by abnormal keratinization and acantholysis; discussions on the clinical manifestations include multiple dark-brown keratotic plaques and warty papules covered by thick crusts particularly in seborrheic areas.

Published
2019
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44. Photodynamic therapy and CO 2 fractional laser combination therapy for verruca vulgaris caused by Koebner phenomenon - Two case reports.

Author

Lv S, Fu X, Yue Z, Zhang H, Zhou G, Liu H, and Zhang F

Subjects
Humans, Carbon Dioxide, Quality of Life, Photosensitizing Agents therapeutic use, Lasers, Photochemotherapy methods, Warts drug therapy
Abstract

Verruca vulgaris, caused by the human papillomavirus (HPV), can profoundly impact an individual's quality of life and necessitate therapeutic intervention. The challenges associated with treating verruca vulgaris are particularly noteworthy when they manifest as the Koebner phenomenon (KP). In this report, we present two cases of verruca vulgaris that developed KP following cryotherapy. Some studies have suggested that pretreatment with laser therapy enhances the efficacy of Photodynamic Therapy (PDT). Given the inefficacy of cryotherapy and the emergence of KP in our patients, we opted for a treatment approach that combined PDT with CO 2 fractional laser (CO 2 FL), resulting in complete resolution without any notable adverse effects or recurrence during the follow-up period. Our cases underscore the importance of considering KP when verruca vulgaris exhibit enlargement and proliferation post-cryotherapy. Furthermore, this combined treatment modality demonstrates its effectiveness and safety. Additionally, our experience highlights the need for a large-scale study to determine the optimal photosensitizer concentration for the treatment of thick, enlarged verruca vulgaris., Competing Interests: Declaration of Competing Interest There are no conflicts of interest., (Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.)

Published
2024
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45. Case Report: Lepromatous Leprosy and Psoriasis: An Uncommon Coincidence.

Author

Li J, Fu X, Sun L, Xue X, Liu H, and Zhang F

Subjects
Humans, Mycobacterium leprae isolation & purification, Coinfection, Leprosy, Lepromatous complications, Leprosy, Lepromatous diagnosis, Psoriasis complications, Psoriasis diagnosis
Abstract

Leprosy, a chronic infectious disease, and psoriasis, an inflammatory disorder, are distinct entities. Epidemiology data show that these two diseases are almost mutually exclusive, with only a few reported cases of their coexistence. Here, we present the case of a patient manifesting intermingled psoriatic and leprosy lesions diagnosed as borderline lepromatous leprosy and plaque psoriasis. Of note, Mycobacterium leprae bacilli were detected not only in the two types of lesions but also in normal-appearing skin and blood.

Published
2022
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46. Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases.

Author

Yu Y, Wang Z, Mi Z, Sun L, Fu X, Yu G, Pang Z, Liu H, and Zhang F

Subjects
China epidemiology, Collagen Type VII genetics, Humans, Mutation, Pedigree, Epidermolysis Bullosa diagnosis, Epidermolysis Bullosa genetics, Epidermolysis Bullosa Dystrophica diagnosis, Epidermolysis Bullosa Dystrophica genetics, Epidermolysis Bullosa Simplex diagnosis, Epidermolysis Bullosa Simplex genetics
Abstract

Epidermolysis bullosa encompasses a group of inherited blistering skin disorders. The pathogenic mutations in 10-25% of patients with epidermolysis bullosa have not been identified by Sanger sequencing. The aims of this study were to identify the pathogenic sequence alterations in a large cohort of Chinese patients with epidermolysis bullosa and to clarify the relationship between clinical phenotypes and genotypes. Whole-exome sequencing was performed on 44 pedigrees and 13 sporadic cases. The results were further confirmed by Sanger sequencing. In total, 52 mutations, comprising 19 novel and 33 previously reported mutations, were identified in 5 genes, with a mutation detection rate of 100%. A relationship between subtypes and pathogenic genes was established: 12 cases of epidermolysis bullosa simplex were associated with mutations in KRT5/14 and PLEC; one case of junctional epidermolysis bullosa carried mutations in ITGB4; and 44 cases of dystrophic epidermolysis bullosa were caused by mutations in COL7A1. The results of this study support whole-exome sequencing as a promising tool in the genetic diagnosis of epidermolysis bullosa.

Published
2021
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47. Identification of a Single Nucleotide Polymorphism in NFKBIA with Different Effects on Psoriatic Arthritis and Cutaneous Psoriasis in China.

Author

Zhao Q, Sun Y, Fu X, Wang Z, Yu G, Yue Z, Wang Y, Zhang H, Wang C, Liu H, Yang Q, and Zhang F

Subjects
Adult, Arthritis, Psoriatic diagnosis, Arthritis, Psoriatic ethnology, Asian People genetics, Case-Control Studies, China epidemiology, Databases, Genetic, Female, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Phenotype, Psoriasis diagnosis, Psoriasis ethnology, Risk Factors, Arthritis, Psoriatic genetics, NF-KappaB Inhibitor alpha genetics, Polymorphism, Single Nucleotide, Psoriasis genetics
Abstract

Genome-wide association studies have recently identified a number of non-major histocompatibility complex regions associated with psoriatic arthritis. However, data on Chinese patients with psoriatic arthritis and the differences between psoriatic arthritis and cutaneous psoriasis are limited. This study genotyped 12 single nucleotide polymorphisms in 379 patients with psoriatic arthritis, 376 with cutaneous psoriasis, and 760 healthy controls using Sequenom's Mass ARRAY system. The aim of the study was to expand the database for psoriatic arthritis and cutaneous psoriasis, and develop a genetic prediction system for the early diagnosis of psoriatic arthritis in the Chinese population. One variant in NFKBIA, rs12883343, had a significantly different association with psoriatic arthritis than with cutaneous psoriasis (p = 4.93×10-10, odds ratio 2.371). This suggests that there are differences in the pathogenesis of psoriatic arthritis and cutaneous psoriasis.

Published
2019
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48. Clinical Study on Complications of Intracranial Ruptured Aneurysm Embolization by Stent-Assisted Coil.

Author

Liu Y, Wang J, Lin L, Sang C, Lin Z, Pan Y, and Fu X

Subjects
Adult, Aged, Balloon Occlusion methods, Blood Vessel Prosthesis, Embolization, Therapeutic instrumentation, Female, Humans, Intracranial Embolism therapy, Male, Middle Aged, Retrospective Studies, Subarachnoid Hemorrhage therapy, Treatment Outcome, Aneurysm, Ruptured complications, Aneurysm, Ruptured therapy, Embolization, Therapeutic methods, Intracranial Aneurysm complications, Intracranial Aneurysm therapy, Stents
Abstract

BACKGROUND The aim of this study was to retrospectively analyze the incidence of complications of intracranial complex aneurysms embolization by stent-assisted coils, and to investigate the causes of complications and corresponding treatment methods. MATERIAL AND METHODS A total of 71 patients with subarachnoid hemorrhage (SAH) underwent stent-assisted coil embolization from 2015 to 2018 were enrolled in this study. Among them, 59 cases were single aneurysm, 12 cases were multiple aneurysms (11 cases with 2 aneurysms and 1 case with 3 aneurysms), for a total of 84 aneurysms. All enrolled patients received stent angioplasty except for 1 case. RESULTS There were 62 aneurysms (73.81%) treated with complete tamponade, 21 aneurysms (25.00%) treated with near-total tamponade and 1 aneurysm (1.19%) treated with partial tamponade. All aneurysms were evaluated based on GOS (Glascow outcome scale): 55 cases had GOS of 5 scores, 12 cases had GOS of 4 scores, 3 cases had GOS of 3 scores, and 1 case had GOS of 1 score. There were 67 SAH patients with good prognosis (GOS of 4-5 scores). In our study, the incidence of complications was 12.7%. Three cases experienced acute thrombosis, 2 cases experienced aneurysm rupture during embolization, and 1 case experienced postoperative focal ischemic changes with mild neurological deficits. CONCLUSIONS Stent-assisted coil embolization is safe, effective, and feasible for the treatment of intracranial ruptured aneurysms. Patients had a favorable outcome of as high as 94.4%. However, clinical skills should be improved to reduce the occurrence of complications. Prompt and timely treatment for complications of intracranial ruptured aneurysm is also of great significance.

Published
2018
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