Article
Immunology
Kangkang Song, Xiaodong Zheng, Xiaomin Liu, Yujun Sheng, Lu Liu, Leilei Wen, Shunlai Shang, Yiyao Deng, Qing Ouyang, Xuefeng Sun, Qinggang Li, Pu Chen, Guangyan Cai, Mengyun Chen, Yuanjing Zhang, Bo Liang, Jianglin Zhang, Xuejun Zhang, Xiangmei Chen
Summary: This study identified several promising susceptibility candidates involved in lupus nephritis (LN) in the Han Chinese population, suggesting that genetic factors play an important role in the development of LN.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Immunology
Miao Zhou, Chao Xue, Zhongdao Wu, Xiaoying Wu, Miaoxin Li
Summary: This study conducted a genome-wide association study on a Chinese population to investigate the genetic factors influencing schistosomiasis complications. Several novel significant single-nucleotide polymorphisms (SNPs) and genes were identified that were associated with liver damage indicators, serum levels, and clinical signs of schistosomiasis.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Yin Huang, Dan Li, Lu Qiao, Yu Liu, Qianqian Peng, Sijie Wu, Manfei Zhang, Yajun Yang, Jingze Tan, Shuhua Xu, Li Jin, Sijia Wang, Kun Tang, Stefan Grunewald
Summary: This study conducted a genome-wide association study on the genetic basis of facial morphology in the Han Chinese population, identifying significant associations between multiple facial features and different genomic regions. These findings contribute to a more comprehensive understanding of the genetic factors underlying variation in human facial morphology.
JOURNAL OF GENETICS AND GENOMICS
(2021)
Article
Genetics & Heredity
Yafen Yu, Qi Zhen, Weiwei Chen, Yanqin Yu, Zhuo Li, Yirui Wang, Wencheng Fan, Sihan Luo, Daiyue Wang, Yuanming Bai, Zhuan Bian, Miao He, Liangdan Sun
Summary: In this study, genome-wide association studies and meta-analyses were conducted on a Chinese Han population to identify risk loci for nonsyndromic orofacial clefts. A total of 47 risk loci were identified, including 5 new loci, which collectively accounted for 44.12% of the heritability of orofacial clefts in the population.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Article
Multidisciplinary Sciences
Xi Wu, Cong Huai, Lu Shen, Mo Li, Chao Yang, Juan Zhang, Luan Chen, Wenli Zhu, Lingzi Fan, Wei Zhou, Qinghe Xing, Lin He, Chunling Wan, Shengying Qin
Summary: The study found that patients with schizophrenia in Chinese families carried more duplications compared to healthy family members and controls, and identified new CNV loci associated with schizophrenia. Two genes within these CNVs showed significant relevance to schizophrenia, supporting the role of CNVs in schizophrenia etiology and providing new insights into the pathogenesis of schizophrenia.
Article
Health Care Sciences & Services
Yu-Jer Hsiao, Hao-Kai Chuang, Sheng-Chu Chi, Yung-Yu Wang, Pin-Hsuan Chiang, Pai-Chi Teng, Tung-Mei Kuang, Aliaksandr A. Yarmishyn, Tai-Chi Lin, De-Kuang Hwang, Shih-Jen Chen, Shih-Hwa Chiou, Mei-Ju Chen, Ai-Ru Hsieh, Chih-Chien Hsu
Summary: This study conducted a GWAS based on the Taiwan Biobank, identifying 138 independent glaucoma-associated SNPs. A polygenic risk score model was successfully constructed to predict the risk of glaucoma in individuals, and its effectiveness was validated in the Han Chinese population.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Medicine, Research & Experimental
Hao Bai, Mengyuan Song, Shikun Lei, Lin Jiao, Xuejiao Hu, Tao Wu, Jiajia Song, Tangyuheng Liu, Wu Peng, Zhenzhen Zhao, Zirui Meng, Binwu Ying
Summary: Tuberculosis remains a serious global public health threat, and human susceptibility to TB has a strong genetic basis. Through a two-stage genome-wide association study, we identified 14 and 3 independent loci associated with TB susceptibility in Chinese Han and Tibetan populations, respectively. Furthermore, our findings confirmed the significant association between the human leukocyte antigen (HLA) class II genes and TB.
Article
Obstetrics & Gynecology
Shufan Yue, Ling Pei, Fenghua Lai, Huangmeng Xiao, Zeting Li, Rui Zeng, Li Chen, Wenzhan Chen, Huiling Liu, Yanbing Li, Haipeng Xiao, Xiaopei Cao
Summary: This study identified five novel SNPs associated with GDM susceptibility in Chinese Han women through GWAS and verified the relationships between these SNPs and glucose metabolism during pregnancy using clinical data. Among the newly-identified susceptibility loci, TRPV3 gene was associated with worse insulin resistance postpartum.
BMC PREGNANCY AND CHILDBIRTH
(2023)
Article
Immunology
Shuyuan Liu, Nannan Liu, Hui Wang, Xinwen Zhang, Yufeng Yao, Shuqiong Zhang, Li Shi
Summary: The study found an association between CCR5 promoter polymorphisms and pulmonary TB and TB progression in the Chinese Han population.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Genetics & Heredity
Qiufen Xie, Yuan Li, Zhiyan Liu, Guangyan Mu, Hanxu Zhang, Shuang Zhou, Zhe Wang, Zining Wang, Jie Jiang, Xin Li, Qian Xiang, Yimin Cui
Summary: This study identified genetic variations that affect the metabolism of dabigatran in healthy Chinese subjects. These findings provide insights into the individual differences in dabigatran metabolism and the potential for personalized medicine.
FRONTIERS IN GENETICS
(2022)
Article
Clinical Neurology
Shih-Pin Chen, Chia-Lin Hsu, Yen-Feng Wang, Fu-Chi Yang, Ting-Huei Chen, Jia-Hsin Huang, Li-Ling Hope Pan, Jong-Ling Fuh, Hsueh-Chen Chang, Yi-Lun Lee, Hung-Ching Chang, Ko-Han Lee, Yu-Chuan Chang, Cathy Shen-Jang Fann, Shuu-Jiun Wang
Summary: This study investigates the genetic architecture and susceptibility loci of cluster headache in Han Chinese residing in Taiwan, revealing novel susceptible loci and providing mechanistic insights into the pathogenesis of cluster headache.
JOURNAL OF HEADACHE AND PAIN
(2022)
Article
Genetics & Heredity
Baoping Hu, Yuhe Wang, Zhongtao Wang, Xue He, Li Wang, Dongya Yuan, Yongjun He, Tianbo Jin, Shumei He
Summary: By studying the northwest Chinese Han population, this research identified the relationships between polymorphisms in or near the SLC11A1 gene and age- and sex-specific tuberculosis risk.
FRONTIERS IN GENETICS
(2022)
Article
Oncology
Yuxin Wang
Summary: The study revealed that LRRC3B gene polymorphisms were associated with the risk of breast cancer, suggesting that LRRC3B variants might be helpful in predicting breast cancer progression.
FRONTIERS IN ONCOLOGY
(2021)
Article
Biotechnology & Applied Microbiology
Mo Li, Yi Hu, Baihui Zhao, Luan Chen, Hailiang Huang, Cong Huai, Xiaoqing Zhang, Jinghong Zhang, Wei Zhou, Lu Shen, Qi Zhen, Bao Li, Wenjun Wang, Lin He, Shengying Qin
Summary: A two-stage study identified genetic markers associated with TB susceptibility in 616 TB patients and 709 healthy controls. The study confirmed 6 nominally significant SNPs and a HLA-II allele as predisposing factors for TB. The research provides insight into the genetic variants linked to TB susceptibility and sheds light on tuberculosis pathogenesis.
Article
Clinical Neurology
Ji-Lan Han, Yao-Xian Yue, Xiang Gao, Yan-Chen Xie, Hong-Jun Hao, Hong-Yan Li, Xiao-Long Yu, Jie Li, Rui-Sheng Duan, Hai-Feng Li
Summary: In a case-control study, the association between VDR gene polymorphism and susceptibility/severity of MG patients was investigated. There were no significant differences in allele and genotype frequencies between MG patients and healthy controls, as well as between different MG subgroups. However, significant differences were found in the frequencies of alleles and genotypes in rs731236 between adult non-thymoma AChRAb negative MG subgroup and the control group, as well as the adult non-thymoma AChRAb positive MG group in the comprehensive classification analysis. Further confirmation is needed to establish the possible association in the Chinese Han population.
FRONTIERS IN NEUROLOGY
(2021)
Article
Biochemistry & Molecular Biology
Vanessa Joy Timoteo, Kuang-Mao Chiang, Hsin-Chou Yang, Wen-Harn Pan
Summary: Human iron nutrition is influenced by both genetic and environmental factors. This study compared the genetic determinants of hemoglobin (Hb) concentration between Taiwanese Han Chinese and European Whites. The results showed consistent associations of specific SNPs in TMPRSS6, ABO, and PRKCE with Hb levels in both ethnic groups. Ethnic-specific associations were also observed, such as the association of AXIN1 with Hb levels in Taiwanese Han Chinese. The findings highlight the importance of both common and ethnic-specific genetic factors in Hb regulation.
JOURNAL OF NUTRITIONAL BIOCHEMISTRY
(2023)
Article
Biotechnology & Applied Microbiology
Lakmini P. Wasala, Thais B. Watkins, Nalinda B. Wasala, Matthew J. Burke, Yongping Yue, Yi Lai, Gang Yao, Dongsheng Duan
Summary: Duchenne muscular dystrophy (DMD) is a fatal muscle disease caused by dystrophin deficiency. In this study, it was found that mu Dys with both H1 and H4 effectively localized to the muscle membrane, restored the dystrophin-associated protein complex, and improved muscle force. On the other hand, mu Dys with only H1 or without H4 did not have the same effects. Therefore, H4 is essential for mu Dys function and H1 facilitates force production. These findings will contribute to the development of next-generation mu Dys gene therapy.
HUMAN GENE THERAPY
(2023)
Article
Nutrition & Dietetics
Ce Sun, Wei Sen Zhang, Chao Qiang Jiang, Ya Li Jin, Xue Qing Deng, G. Neil Thomas, Jean Woo, Kar Keung Cheng, Tai Hing Lam, Lin Xu
Summary: Using data from the Guangzhou Biobank Cohort Study, the association between whole grain and refined grain intake with all-cause, cancer, and cardiovascular disease mortality was examined. The study found that higher whole grain intake was associated with lower all-cause and cardiovascular disease mortality, while higher refined grain intake was associated with lower cancer mortality but higher cardiovascular disease mortality.
EUROPEAN JOURNAL OF NUTRITION
(2023)
Article
Biotechnology & Applied Microbiology
Nalinda B. Wasala, Yongping Yue, Bryan Hu, Jin-Hong Shin, Gang Yao, Dongsheng Duan
Summary: In this study, the researchers injected the AAV mu Dys vector into mdx mice and observed significant improvements in muscle strength, exercise capacity, and cardiac function. The results suggest that AAV mu Dys therapy has the potential to provide lifelong benefits in patients with Duchenne muscular dystrophy.
HUMAN GENE THERAPY
(2023)
Review
Infectious Diseases
Lydia Wilson, Lara Gracie, Farah Kidy, G. Neil Thomas, Krishnarajah Nirantharakumar, Sheila Greenfield, Semira Manaseki-Holland, Derek J. Ward, Tiffany E. Gooden
Summary: This study systematically reviewed the efficacy and safety of tuberculosis vaccine candidates in late-phase clinical trials conducted in low- and middle-income countries. The study found that M72/AS01 was the only vaccine candidate considered safe across diverse populations.
BMC INFECTIOUS DISEASES
(2023)
Article
Medicine, General & Internal
Kelvin Okoth, William Parry Smith, G. Neil Thomas, Krishnarajah Nirantharakumar, Nicola J. Adderley
Summary: Female reproductive factors, including menstrual cycle characteristics, are gaining recognition as factors associated with cardiovascular disease (CVD) risk. However, there is limited data on the association between menstrual cycle characteristics and CVD risk in the UK. This retrospective cohort study in the UK found that irregular or frequent/infrequent menstrual cycles were associated with an increased risk of cardiometabolic outcomes in later life. Menstrual history may be a useful tool in identifying women eligible for periodic assessment of their cardiometabolic health.
Article
Construction & Building Technology
Tony Bush, Suzanne Bartington, Francis D. Pope, Ajit Singh, G. Neil Thomas, Brian Stacey, George Economides, Ruth Anderson, Stuart Cole, Pedro Abreu, Felix C. P. Leach
Summary: The emergency responses to the COVID-19 pandemic resulted in significant changes in travel behaviors and economic activities, affecting urban air quality. This study utilized high-spatial resolution data from a network of low-cost air quality sensors in Oxford, UK to monitor the impacts of multiple COVID-19 public health restrictions on particulate matter concentrations. The findings demonstrated the potential of low-cost sensor technology in identifying localized changes in pollutant concentrations and highlighted the need for additional measures to reduce PM10 and PM2.5 levels in order to meet health guidelines and legislative targets.
BUILDING AND ENVIRONMENT
(2023)
Article
Endocrinology & Metabolism
Katherine Phillips, Jonathan M. Hazlehurst, Christelle Sheppard, Srikanth Bellary, Wasim Hanif, Muhammad Ali Karamat, Francesca L. Crowe, Anna Stone, G. Neil Thomas, Javeria Peracha, Anthony Fenton, Christopher Sainsbury, Krishnarajah Nirantharakumar, Indranil Dasgupta
Summary: This study aimed to determine differences in the management of diabetic kidney disease (DKD) relevant to patient sex, ethnicity and socio-economic group in UK primary care. The study found that a low proportion of people with DKD are managed in accordance with national guidelines, and there are differences based on gender, ethnicity, and socio-economic factors. Addressing these disparities could reduce the human and societal cost of managing DKD.
Article
Psychiatry
Jiao Wang, Wei Sen Zhang, Chao Qiang Jiang, Feng Zhu, Ya Li Jin, Graham Neil Thomas, Kar Keung Cheng, Tai Hing Lam, Lin Xu
Summary: Although social isolation has been associated with higher mortality risk, the associations of persistence of social isolation with mortality are unclear. Our study investigated the prospective associations of intermittent and persistent social isolation with all-cause and cause-specific mortality.
PSYCHIATRY RESEARCH
(2023)
Article
Public, Environmental & Occupational Health
Kelvin Okoth, G. Neil Thomas, Krishnarajah Nirantharakumar, Nicola J. Adderley
Summary: This study investigated the incidence and prevalence of pelvic inflammatory disease (PID) and estimated the risk of cardiometabolic outcomes among women with PID compared to those without PID. The results showed that women with PID had a higher risk of cardiometabolic diseases compared to women without PID.
Article
Medicine, General & Internal
Emma Dickinson-Craig, Jargalsaikhan Badarch, Suzanne Bartington, Karla Hemming, Rasiah Thayakaran, Rosie Day, Francis Pope, Bataa Chuluunbaatar, Damdindorj Boldbaatar, Chimedsuren Ochir, David Warburton, Graham Neil Thomas, Semira Manaseki-Holland
Summary: Despite a decade of policy actions, Ulaanbaatar's residents continue to be exposed to extreme levels of air pollution, which is a major public health concern. The Mongolian government implemented a raw coal ban in May 2019 to address this issue. This study aims to assess the effectiveness of the coal ban policy on air quality and maternal and child health outcomes.
Review
Pharmacology & Pharmacy
Brian Tomlinson, Yan-Hong Li
Summary: This article reviews the use of fixed-dose combinations of canagliflozin and metformin extended release in the treatment of type 2 diabetes.
EXPERT OPINION ON PHARMACOTHERAPY
(2023)
Article
Multidisciplinary Sciences
Alessandra C. Goulart, Ana C. Varella, Tiffany E. Gooden, Gregory Y. H. Lip, Kate Jolly, G. Neil Thomas, Paulo A. Lotufo, Sheila Greenfield, Rodrigo D. Olmos, Isabela M. Bensenor, Semira Manaseki-Holland
Summary: In this study, we investigated the patient care pathways and drivers, as well as the impact of the COVID-19 pandemic on patient pathways for atrial fibrillation in Brazil. The findings suggest that lack of public awareness and underdeveloped primary healthcare contribute to delayed diagnosis, which has negative effects on clinical outcomes and healthcare costs.
Review
Biotechnology & Applied Microbiology
Dongsheng Duan
Summary: This mini-review summarizes clinical findings of lethal immunotoxicity induced by high-dose systemic AAV gene therapy and calls for collaborative efforts to better understand the underlying mechanisms and develop effective prevention/treatment strategies.