Article
Genetics & Heredity
Liyan Xu, Kaili Yang, Shanshan Yin, Yuwei Gu, Qi Fan, Yawen Wang, Dongqing Zhao, Shengwei Ren
Summary: This study identified candidate rare variants and genes related to KC in Chinese families using family-based exome sequencing. It also found protein interactions among some of the identified genes. These findings provide novel insights into the genetic etiology of KC.
FRONTIERS IN GENETICS
(2022)
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
Cardiac & Cardiovascular Systems
Yu-Xing Liu, Rong Yu, Yue Sheng, Liang-Liang Fan, Yao Deng
Summary: This study reports a Chinese family with cardiomyopathy and sudden cardiac death. Whole-exome sequencing was used to explore the genetic entity of this family, and a novel DES mutation was identified. The study expands the understanding of the relationship between DES mutations and hereditary cardiomyopathy.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Hematology
Yupei Shen, Yan Zhang, Ying Xiong, Zhiping Zhang, Baohua Zhang, Aihong Li, Zhaofeng Zhang, Jing Ding, Jing Du, Yan Che
Summary: This study investigated genetic risk factors for venous thromboembolism (VTE) in pregnant women through a large-scale prospective cohort study. The findings suggest that the presence of known pathogenic variants, damaging variants in thrombophilia genes, and rare damaging variants are associated with VTE in pregnancies. Exome-wide association analysis identified several genes related to basement membranes, sterol accumulation, atherosclerosis, lipid metabolism, and coagulation deficiency as potential mechanisms of VTE in pregnancies.
THROMBOSIS RESEARCH
(2022)
Article
Genetics & Heredity
Runfeng Zhang, Peng Jia, Yanyi Yao, Feng Zhu
Summary: This study reported a case of mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) in a Chinese family. Through genetic analysis, a novel variant in the CASK gene associated with the disease was identified. The patient exhibited symptoms such as microcephaly, pontocerebellar hypoplasia, and severe intellectual disabilities. This research facilitates the diagnosis of the disease in the family and expands the variant spectrum of the CASK gene in MICPCH patients.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Jian Tang, Xingyang Wan, JunXiao Zhang, Na Diao, Caibin Zhang, Xiang Gao, Donglin Ren
Summary: This study aimed to identify genetic variations associated with Crohn's disease (CD) susceptibility in Han Chinese families with CD. Through genome sequencing, genetic association, expression, and functional research, 92 genetic variants significantly associated with CD were identified in Chinese individuals. The rare frameshift variant in the SIRPB1 gene was found to be strongly associated with CD and had functional implications in inflammatory pathways and cytokine synthesis.
FRONTIERS IN GENETICS
(2023)
Article
Cell Biology
Yong Guo, Jing Jin, Zhenni Zhou, Yihui Chen, Li Sun, Chunwu Zhang, Xiaoru Xia
Summary: This study identified a rare CPT2 mutation in a large Chinese pedigree with gout. Functional studies revealed that the mutant protein induces protein degradation and affects the binding ability of CPT2 to UCP2. This study provides novel insight into the genetic etiology of gout.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Medicine, Research & Experimental
Doudou Chen, Siquan Zhu
Summary: This study identified a pathogenic gene mutation for XLRS in a three-generation Chinese family using WES. A recurrent RS1 mutation was found to cause XLRS in this family, leading to premature termination of translation of the RS1 protein.
EXPERIMENTAL AND THERAPEUTIC MEDICINE
(2021)
Article
Genetics & Heredity
Juyi Li, Tao Luo, Xiufang Wang, Mengjie Wang, Tao Zheng, Xiao Dang, Aiping Deng, Youzhi Zhang, Sheng Ding, Ping Jing, Lin Zhu
Summary: A known CADASIL-causing mutation NOTCH3 (c.397C > T, p.Arg133Cys) was identified in a Chinese family. The clinical manifestations of mutation carriers in this family are highly heterogeneous, which is likely a common feature for the etiology of different mutations in CADASIL. Molecular genetic analyses are critical for accurate diagnosis and genetic counseling for CADASIL.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Huifen Xiang, Chunyan Wang, Hong Pan, Qian Hu, Ruyi Wang, Zuying Xu, Tengyan Li, Yezhou Su, Xu Ma, Yunxia Cao, Binbin Wang
Summary: This study identified several potential causal genetic variants in women with recurrent pregnancy loss (RPL) through whole-exome sequencing (WES), highlighting the important role of genes controlling coagulation, confirming the pathogenic role of KHDC3L, and identifying FOXA2 as a newly discovered causal gene in women with RPL.
FRONTIERS IN GENETICS
(2021)
Article
Ophthalmology
Tsz Kin Ng, Yingjie Cao, Xiang-Ling Yuan, Shaowan Chen, Yanxuan Xu, Shao-Lang Chen, Yuqian Zheng, Haoyu Chen
Summary: This study identified disease-causing mutations in Chinese patients with Stargardt disease or retinitis pigmentosa through whole exome sequencing analysis. A total of 22.4% of the study subjects carried mutations in Stargardt disease-related genes, with 15 novel variants discovered. Targeted next-generation sequencing analysis is recommended as a routine examination for suspected patients with inherited retinal dystrophies.
Article
Surgery
Erina Takai, Hiromi Nakamura, Suenori Chiku, Emi Kubo, Akihiro Ohmoto, Yasushi Totoki, Tatsuhiro Shibata, Ryota Higuchi, Masakazu Yamamoto, Junji Furuse, Kyoko Shimizu, Hideaki Takahashi, Chigusa Morizane, Toru Furukawa, Shinichi Yachida
Summary: The study aimed to identify novel genes that increase the risk of familial pancreatic cancer (FPC) in the Japanese population. The findings revealed potentially harmful germline variants in tumor suppressor genes in FPC patients, and somatic loss of heterozygosity of certain FPC susceptibility genes may contribute to FPC development. Genetic testing for a wider range of FPC predisposition genes could improve screening methods for high-risk groups of pancreatic cancer.
Review
Clinical Neurology
Yaheng Li, Xiaohong Xin, Wenzhu Song, Xuan Zhang, Shengli Chen, Qian Wang, Aizhong Li, Yafeng Li
Summary: This study analyzed the clinical manifestations and imaging features of a patient with VHL syndrome and performed genetic testing, identifying a potentially disease-causing mutation. Increasing knowledge of this disease and improving diagnostic rates are crucial for precise treatment.
FRONTIERS IN NEUROLOGY
(2022)
Article
Medicine, General & Internal
Liyuan Yang, Genqi Lu, Wenjing Shen, Wenjing Chen, Haiyan Lu, Guozhong Zhang, Shuo Yuan, Shushen Zheng, Jiabao Ren
Summary: This study identified potentially pathogenic mutations in 2 Chinese families with Cleidocranial dysplasia, demonstrating a novel initiation codon mutation causing the disorder and highlighting the haploinsufficiency in RUNX2 as the underlying mechanism. These results expand the spectrum of RUNX2 mutations in CCD patients and have implications for genetic consultation and prenatal diagnosis.
Article
Genetics & Heredity
Renle Guo, Pengcheng Du, Yifei Pei, Jin Yang, Shuangshuang Li, Sheng Chang, Huiying Sun, Xiaomin He, Jian Dong, Jian Zhou, Zaiping Jing
Summary: This study identified mutations in COL3A1 and ACTA2 genes as the cause of familial TAAD, and identified other potential candidate genes. Future research may provide further insights into the pathogenic mechanism of TAAD.
FRONTIERS IN GENETICS
(2022)
Article
Gastroenterology & Hepatology
Joyce Wing Yan Mak, Meng-Tzu Weng, Shu Chen Wei, Siew Chien Ng
Summary: The study found no cases of COVID-19 infection among IBD patients in Hong Kong and Taiwan. Most IBD patients in Hong Kong and Taiwan were on medication, with recommendations to continue their medication as prescribed during the pandemic.
JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY
(2021)
Review
Gastroenterology & Hepatology
Zhihua Ran, Kaichun Wu, Katsuyoshi Matsuoka, Yoon Tae Jeen, Shu Chen Wei, Vineet Ahuja, Minhu Chen, Pin-Jin Hu, Akira Andoh, Hyo Jong Kim, Suk-Kyun Yang, Mamoru Watanabe, Siew Chien Ng, Toshifumi Hibi, Ida Normiha Hilmi, Yasuo Suzuki, Dong Soo Han, Wai Keung Leung, Jose Sollano, Choon Jin Ooi, Jiaming Qian
Summary: The article discusses the increased incidence and prevalence of inflammatory bowel disease (IBD) in Asian countries, as well as the recommendations for medical management of IBD in Asia. These recommendations cover various aspects from pretreatment evaluation to treatment management.
JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY
(2021)
Article
Gastroenterology & Hepatology
Jingwan Zhang, Emily C. Hoedt, Qin Liu, Erwin Berendsen, Jing Jie Teh, Amy Hamilton, Amy Wilson O' Brien, Jessica Y. L. Ching, Hong Wei, Keli Yang, Zhilu Xu, Sunny H. Wong, Joyce W. Y. Mak, Joseph J. Y. Sung, Mark Morrison, Jun Yu, Michael A. Kamm, Siew C. Ng
Summary: Proteus spp, particularly Proteus mirabilis, is significantly more prevalent and abundant in fecal samples and colonic tissue of patients with Crohn's disease compared to healthy controls. The presence of P mirabilis is associated with an increase in pro-inflammatory pathways and cytokine production, leading to inflammation in cells and animal models of colitis. These findings suggest that P mirabilis may act as a pathobiont and play a crucial role in the pathogenesis of Crohn's disease.
Article
Gastroenterology & Hepatology
Yang Sun, Tao Zuo, Chun Pan Cheung, Wenxi Gu, Yating Wan, Fen Zhang, Nan Chen, Hui Zhan, Yun Kit Yeoh, Junkun Niu, Yan Du, Fengrui Zhang, Yunling Wen, Jun Yu, Joseph J. Y. Sung, Paul K. S. Chan, Francis K. L. Chan, Kunhua Wang, Siew C. Ng, Yinglei Miao
Summary: The study revealed significant variability in the human gut mycobiome across populations, with urbanization-related factors having the strongest impact on gut mycobiome variation, followed by geography, dietary habits, and ethnicity. Different fungal species showed differences in abundance and correlations in urban and rural populations.
Article
Gastroenterology & Hepatology
Charles N. Bernstein, Siew C. Ng, Rupa Banerjee, Flavio Steinwurz, Bo Shen, Franck Carbonnel, Saeed Hamid, Ajit Sood, Jesus K. Yamamoto-Furusho, Anne Griffiths, Eric Benchimol, Simon Travis, Susana Lopes, David T. Rubin, Gilaad G. Kaplan, David Armstrong, Richard Gearry
Summary: The study surveyed 52 gastroenterologists from 33 countries across 6 continents on the management of IBD during the COVID-19 pandemic. Most doctors adhered to published guidelines, with reductions in in-person clinics, steroid use, elective endoscopy, and elective surgeries. The approach to managing IBD during the pandemic was largely similar worldwide.
INFLAMMATORY BOWEL DISEASES
(2021)
Article
Genetics & Heredity
Lin Wang, Dominik Aschenbrenner, Zhiyang Zeng, Xiya Cao, Daniel Mayr, Meera Mehta, Melania Capitani, Neil Warner, Jie Pan, Liren Wang, Qi Li, Tao Zuo, Sarit Cohen-Kedar, Jiawei Lu, Rico Chandra Ardy, Daniel J. Mulder, Dilan Dissanayake, Kaiyue Peng, Zhiheng Huang, Xiaoqin Li, Yuesheng Wang, Xiaobing Wang, Shuchao Li, Samuel Bullers, Anis N. Gammage, Klaus Warnatz, Ana-Iris Schiefer, Gergely Krivan, Vera Goda, Walter H. A. Kahr, Mathieu Lemaire, Chien-Yi Lu, Iram Siddiqui, Michael G. Surette, Daniel Kotlarz, Karin R. Engelhardt, Helen R. Griffin, Robert Rottapel, Helene Decaluwe, Ronald M. Laxer, Michele Proietti, Sophie Hambleton, Suzanne Elcombe, Cong-Hui Guo, Bodo Grimbacher, Iris Dotan, Siew C. Ng, Spencer A. Freeman, Scott B. Snapper, Christoph Klein, Kaan Boztug, Ying Huang, Dali Li, Holm H. Uhlig, Aleixo M. Muise
Summary: The study identified damaging SYK gain-of-function variants in patients with immune deficiency and inflammatory diseases, which could be treated with bone marrow transplantation or SYK inhibitors. Treatment strategies for patients with SYK mutations were highlighted through knock-in mouse models showing disease amelioration with these interventions.
Article
Microbiology
Tao Zuo, Qin Liu, Fen Zhang, Yun Kit Yeoh, Yating Wan, Hui Zhan, Grace C. Y. Lui, Zigui Chen, Amy Y. L. Li, Chun Pan Cheung, Nan Chen, Wenqi Lv, Rita W. Y. Ng, Eugene Y. K. Tso, Kitty S. C. Fung, Veronica Chan, Lowell Ling, Gavin Joynt, David S. C. Hui, Francis K. L. Chan, Paul K. S. Chan, Siew C. Ng
Summary: Patients with COVID-19 exhibited distinctive gut virome composition compared to non-COVID-19 subjects, which persisted even after the resolution of the disease. The findings suggest that the gut virome may play a role in modulating host immunity and impacting the severity of SARS-CoV-2 infection.
Article
Gastroenterology & Hepatology
Hannah Gordon, William Blad, Frederik Trier Moller, Timothy Orchard, Alan Steel, Gareth Trevelyan, Siew Ng, Marcus Harbord
Summary: The study explores the heritability of IBD using twin pairs and identifies associations with environmental factors such as smoking, breastfeeding, and occurrence of gastroenteritis. While smoking is predictive of CD, breastfeeding is protective against UC, and less occurrences of gastroenteritis are protective against future UC onset. Delivery method, parental hygiene attitudes, and diet recall do not impact future IBD concordance.
DIGESTIVE DISEASES AND SCIENCES
(2022)
Article
Medicine, General & Internal
Kristin E. Burke, Mauro D'Amato, Siew C. Ng, Darrell S. Pardi, Jonas F. Ludvigsson, Hamed Khalili
Summary: Microscopic colitis is an inflammatory disease of the large intestine, primarily affecting older women and commonly seen in high-income countries. The pathogenesis involves inappropriate immune response and genetic factors, with diagnosis relying on clinical symptoms and colonic biopsy. Treatment includes budesonide use and withdrawal of offending drugs.
NATURE REVIEWS DISEASE PRIMERS
(2021)
Meeting Abstract
Gastroenterology & Hepatology
Terry Cheuk-Fung Yip, Francis Ka-Leung Chan, Grace Chung-Yan Lui, Vincent Wai-Sun Wong, Henry Lik-Yuen Chan, Sunny Hei Wong, Joyce Wing-Yan Mak, Siew-Chien Ng, David Shu-Cheong Hui, Grace Lai-Hung Wong
JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY
(2021)
Meeting Abstract
Gastroenterology & Hepatology
Joyce W. Y. Mak, Yang Sun, Amy L. Wilson-O'Brien, Xiaoqing Lin, Mark Morrison, Jessica Y. L. Ching, Junkun Niu, Amy L. Hamilton, Rui Feng, Whitney Tang, Leo Or, Gina L. Trakman, Winnie Lin, Ming Hu Chen, Yinglei Mao, Michael A. Kamm, Siew C. Ng
JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY
(2021)
Meeting Abstract
Gastroenterology & Hepatology
Joyce Wing Yan Mak, Ray Hong Man Lam, Terry Cheuk Fung Yip, Jacky Chiu Leung Ho, Tsz On Lam, Lai Shan Tam, Grace Lai Hung Wong, Siew Chien Ng
JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY
(2021)
Meeting Abstract
Gastroenterology & Hepatology
Michael Buie, Joshua Quan, Joseph W. Windsor, Stephanie Coward, Richard Gearry, Tawnya Hansen, James A. King, Paulo G. Kotze, Siew C. Ng, Remo Panaccione, Cynthia H. Seow, Fox E. Underwood, Gilaad Kaplan
Meeting Abstract
Gastroenterology & Hepatology
Manasi Agrawal, Erica J. Brenner, Joyce W. Mak, Xian Zhang, Gilaad Kaplan, Siew C. Ng, Ryan C. Ungaro, Jean Frederic Colombel, Michael Kappelman
Letter
Gastroenterology & Hepatology
Gianluca Ianiro, Benjamin H. Mullish, Christian Lodberg Hvas, Jonathan P. Segal, Ed J. Kuijper, Samuel P. Costello, Colleen R. Kelly, Jessica R. Allegretti, Monika Fischer, Tariq H. Iqbal, Reetta Satokari, Dina Kao, Joffrey van Prehn, Siew C. Ng, Stefano Bibbo, Simon Mark Dahl Baunwall, Mohammed N. Quraishi, Harry Sokol, Faming Zhang, Josbert Keller, Luca Masucci, Gianluca Quaranta, Zain Kassam, Maurizio Sanguinetti, Herbert Tilg, Antonio Gasbarrini, Giovanni Cammarota
LANCET GASTROENTEROLOGY & HEPATOLOGY
(2021)