Article
Genetics & Heredity
Yen-Ju Chen, I-Chieh Chen, Hsueh-Ju Lin, Ying-Cheng Lin, Jui-Chun Chang, Yi-Ming Chen, Tzu-Hung Hsiao, Pei-Chun Chen, Ching-Heng Lin
Summary: The interaction between ABCG2 rs2231142 variant and body mass index significantly increases the risk of hyperuricemia, especially in men and women. Weight control and reduction in BMI are recommended for high-risk patients.
FRONTIERS IN GENETICS
(2021)
Review
Pharmacology & Pharmacy
Yubin Song, Hee-Hyun Lim, Jeong Yee, Ha-Young Yoon, Hye-Sun Gwak
Summary: This meta-analysis reveals that individuals carrying the A allele of ABCG2 421C>A exhibit significantly increased AUC(0-infinity) and C-max values in the pharmacokinetics of rosuvastatin, suggesting the potential utility of ABCG2 genotypes in individualized rosuvastatin therapy.
Article
Medicine, General & Internal
Po-Han Huang, Jen Yu, Yin-Yi Chu, Yang-Hsiang Lin, Chau-Ting Yeh
Summary: This study validated the independent prognostic value of CP score and ABCG2-rs2231142 genotype in advanced HCC patients receiving sorafenib treatment.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Jin-Woo Park, Ji-Hyeon Noh, Jong-Min Kim, Hwa-Young Lee, Kyoung-Ah Kim, Ji-Young Park
Summary: This study found that the polymorphisms of ABCG2 rs2231142 and SLC2A9 rs3733591 may elevate blood uric acid levels.
Article
Clinical Neurology
Sung Hoon Kang, Mengting Liu, Gilsoon Park, Sharon Y. Kim, Hyejoo Lee, William Matloff, Lu Zhao, Heejin Yoo, Jun Pyo Kim, Hyemin Jang, Hee Jin Kim, Neda Jahanshad, Kyumgmi Oh, Seong-Beom Koh, Duk L. Na, John Gallacher, Rebecca F. Gottesman, Sang Won Seo, Hosung Kim
Summary: This study investigates the gender and ethnic differences in the effects of cardiometabolic syndrome (CMS) on brain age. The presence of type 2 diabetes mellitus (T2DM) and hypertension is associated with higher brain age, with T2DM and hypertension having a stronger effect on females than males in the Korean population. However, there are no gender differences in the effects of T2DM and hypertension on brain age in the UK population. These findings highlight the importance of considering gender and ethnicity in prevention strategies for preventing accelerated brain aging.
ALZHEIMERS RESEARCH & THERAPY
(2023)
Article
Automation & Control Systems
Pasquale Foggia, Antonio Greco, Alessia Saggese, Mario Vento
Summary: This paper proposes a real-time user profiling solution based on a multi-task convolutional neural network (CNN) for gender, age, ethnicity and emotion recognition from face images. The multi-task CNNs achieve a significant improvement in accuracy, processing time and memory space compared to the corresponding single-task CNNs. It provides a solution that is easily integrable into real applications on smart cameras and embedded systems, and suitable for specific application constraints in terms of computational resources.
ENGINEERING APPLICATIONS OF ARTIFICIAL INTELLIGENCE
(2023)
Article
Medicine, Research & Experimental
Marc-Olivier Pilon, Gregoire Leclair, Essaid Oussaid, Isabelle St-Jean, Martin Jutras, Marie-Josee Gaulin, Ian Mongrain, David Busseuil, Jean Lucien Rouleau, Jean-Claude Tardif, Marie-Pierre Dube, Simon de Denus
Summary: This study investigated the association between the ABCG2 gene rs2231142 variant and the concentrations of oxypurinol, allopurinol, and allopurinol riboside. The results showed no significant association between the rs2231142 variant and these concentrations, suggesting that ABCG2 might not play a major role in the pharmacokinetics of allopurinol or its metabolites.
CTS-CLINICAL AND TRANSLATIONAL SCIENCE
(2022)
Review
Biochemistry & Molecular Biology
Robert Eckenstaler, Ralf A. Benndorf
Summary: Urate homeostasis in humans is a complex and highly heritable process that involves metabolic urate biosynthesis, renal urate reabsorption, and renal and extrarenal urate excretion. ABCG2 plays a crucial role in urate transport and is associated with early-onset gout.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Medicine, General & Internal
Jasvinder A. Singh, Amy Joseph, Joshua Baker, Joshua S. Richman, Terrence Shaneyfelt, Kenneth G. Saag, Seth Eisen
Summary: In African-American gout patients, a culturally appropriate gout-storytelling intervention was not superior to attention control for improving gout outcomes.
Article
Psychology, Social
Shinae L. Choi, Peter Martin, Jinmyoung Cho, Yeon Ji Ryou, Melinda Heinz
Summary: This study examined the association between personality traits and compliance with COVID-19 protective measures among older adults, and found that this association was moderated by age, gender, and race/ethnicity. The results showed that the relationship between agreeableness and wearing masks and handwashing was weaker among older individuals, and the association between extraversion and wearing masks was stronger in men. Additionally, the association between agreeableness and handwashing and physical distancing was weaker for Hispanic older adults, while the association between extraversion and physical distancing and sanitizer use was stronger for Hispanic older adults compared to non-Hispanic White individuals.
PERSONALITY AND INDIVIDUAL DIFFERENCES
(2022)
Article
Biochemistry & Molecular Biology
Trang T. Le, Daniel S. Himmelstein, Ariel A. Hippen, Matthew R. Gazzara, Casey S. Greene
Summary: This study found that honors bestowed by the International Society for Computational Biology generally reflect the gender distribution in the field, but names of East Asian origin are underrepresented among honorees. Additionally, scientists affiliated in the United States received roughly twice as many honors than expected based on their literature authorship.
Article
Neurosciences
Jack E. Henningfield, Sherecce Fields, James C. Anthony, Lawrence S. Brown, Carlos A. Bolanos-Guzman, Sandra D. Comer, Richard De La Garza, Debra Furr-Holden, Albert Garcia-Romeu, Dorothy K. Hatsukami, Armin Raznahan, Carlos A. Zarate
Summary: Higher levels of excellence and innovation in research can be achieved by promoting equity, diversity, and inclusion in organizations. ACNP has made progress in increasing diversity, especially in female membership and leadership positions, but there is still room for improvement in areas like African American and other ethnic populations. Collaboration with other organizations committed to these goals may help accelerate progress towards fostering diversity and inclusion in scientific organizations.
NEUROPSYCHOPHARMACOLOGY
(2021)
Article
Public, Environmental & Occupational Health
Kim-Phuong Truong-Vu
Summary: This study found that the multiplicative interaction term between gender and race/ethnicity significantly affects the likelihood of initiating HPV vaccine uptake, with NL-Asian American boys/men having the highest risk of not vaccinating on time. This finding highlights the importance of considering intersectionality in analyzing vaccination behaviors.
SOCIAL SCIENCE & MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Yu Toyoda, Katerina Pavelcova, Jana Bohata, Pavel Jesina, Yu Kubota, Hiroshi Suzuki, Tappei Takada, Blanka Stiburkova
Summary: The ABCG2 gene is a well-established risk locus for hyperuricemia/gout, however, further research is needed on the genetic variations associated with early-onset gout.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Public, Environmental & Occupational Health
Angel Aliseda-Alonso, Sara Bertran de Lis, Adam Lee, Emily N. Pond, Beth Blauer, Lainie Rutkow, Jennifer B. Nuzzo
Summary: This study aims to collect and standardize COVID-19 demographic data and analyze the differences between this information and the CDC's public surveillance data. The results show significant variations and discrepancies between the CDC's data and the data reported by states and territories, particularly in terms of ethnicity and age groups. This highlights the limitations of standardization and reporting mechanisms in generating complete and real-time demographic data.
AMERICAN JOURNAL OF PUBLIC HEALTH
(2022)
Article
Genetics & Heredity
Chunyu Liu, Ying Shen, Shuyan Tang, Jiaxiong Wang, Yiling Zhou, Shixiong Tian, Huan Wu, Jiangshan Cong, Xiaojin He, Li Jin, Yunxia Cao, Yihong Yang, Feng Zhang
Summary: In this study, we investigated a group of Han Chinese men with asthenoteratozoospermia, a common type of male infertility. Through whole-exome sequencing, we identified AKAP3 as a novel gene associated with multiple morphological abnormalities of the sperm flagella (MMAF). Two different deleterious variants of AKAP3 were found in unrelated MMAF-affected men, and subsequent experiments confirmed the impact of these variants on AKAP3 expression in spermatozoa. Interestingly, the clinical outcomes after intracytoplasmic sperm injection (ICSI) were different between these two cases, suggesting that AKAP3 dosage may influence the prognosis of ICSI treatment.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Clinical Neurology
Yingzhe Wang, Yanfeng Jiang, Wanqing Wu, Kelin Xu, Qianhua Zhao, Ziyi Tan, Xiaoniu Liang, Min Fan, Zhenxu Xiao, Li Zheng, Saineng Ding, Qiang Dong, Zhen Hong, Li Jin, Xingdong Chen, Ding Ding, Mei Cui
Summary: The study found that older adults with higher educational attainment showed slower cognitive decline. Education is especially important for maintaining cognitive health in disadvantaged living environments.
ALZHEIMERS & DEMENTIA
(2023)
Article
Biochemistry & Molecular Biology
Yimin Wang, Yunchao Ling, Jiao Gong, Xiaohan Zhao, Hanwen Zhou, Bo Xie, Haiyi Lou, Xinhao Zhuang, Li Jin, Shaohua Fan, Guoqing Zhang, Shuhua Xu
Summary: PGG.SV is a practical platform that provides large-scale structural variation data, including 1030 long-read sequencing genomes representing 177 global populations. The database offers high-quality SVs with precise genomic locations, estimates of SV prevalence in different geographical populations, informative annotations of related genes, and an analysis platform and visualization tools for association studies.
NUCLEIC ACIDS RESEARCH
(2023)
Letter
Biochemistry & Molecular Biology
Shixiong Tian, Ziqi Wang, Liting Liu, Yiling Zhou, Yue Lv, Dongdong Tang, Jiaxiong Wang, Jing Jiang, Huan Wu, Shuyan Tang, Guanxiong Wang, Hao Geng, Fangbiao Tao, Hongbin Liu, Xiaojin He, Feng Zhang, Jinsong Li, Li Jin, Tao Huang, Chunyu Liu, Yunxia Cao
JOURNAL OF GENETICS AND GENOMICS
(2023)
Article
Dermatology
Qianqian Peng, Yu Liu, Anke Huels, Canfeng Zhang, Yao Yu, Wenqing Qiu, Xiyang Cai, Yuepu Zhao, Tamara Schikowski, Katja Merches, Yun Liu, Yajun Yang, Jiucun Wang, Yong Zhao, Li Jin, Liang Zhang, Jean Krutmann, Sijia Wang
Summary: Solar lentigines (SLs) are a common sign of aging skin caused by chronic exposure to sunlight and environmental stressors. Recent studies have suggested a possible genetic component, but the findings are inconsistent. Through a multi-trait analysis, researchers discovered that genetic variants in the telomerase reverse transcriptase gene are significantly associated with non-facial SLs in East Asian and Caucasian populations. These variants are also related to facial SLs but not other skin aging or pigmentation traits, highlighting a previously unrecognized role of telomerase reverse transcriptase in lentigines formation.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2023)
Article
Genetics & Heredity
Shixiong Tian, Chaofeng Tu, Xiaojin He, Lanlan Meng, Jiaxiong Wang, Shuyan Tang, Yang Gao, Chunyu Liu, Huan Wu, Yiling Zhou, Mingrong Lv, Ge Lin, Li Jin, Yunxia Cao, Dongdong Tang, Feng Zhang, Yue-Qiu Tan
Summary: This study identified biallelic deleterious mutations of CFAP54 in three unrelated men with severe MMAF or NOA. These mutations were associated with abnormal sperm morphology, reduced sperm concentration and motility. Immunofluorescence assays showed reduced staining of four flagellar assembly-associated proteins in the spermatozoa of CFAP54-deficient men.
JOURNAL OF MEDICAL GENETICS
(2023)
Letter
Plant Sciences
Xiao-Min Yang, Hai-Liang Meng, Jian-Lin Zhang, Yao Yu, Edward Allen, Zi-Yang Xia, Kong-Yang Zhu, Pan-Xin Du, Xiao-Ying Ren, Jian-Xue Xiong, Xiao-Yu Lu, Yi Ding, Sheng Han, Wei-Peng Liu, Li Jin, Chuan-Chao Wang, Shao-Qing Wen
JOURNAL OF SYSTEMATICS AND EVOLUTION
(2023)
Article
Biochemistry & Molecular Biology
Hanni Ke, Shuyan Tang, Ting Guo, Dong Hou, Xue Jiao, Shan Li, Wei Luo, Bingying Xu, Shidou Zhao, Guangyu Li, Xiaoxi Zhang, Shuhua Xu, Lingbo Wang, Yanhua Wu, Jiucun Wang, Feng Zhang, Yingying Qin, Li Jin, Zi-Jiang Chen
Summary: Whole-exome sequencing in a cohort of 1,030 patients with POI identified new likely pathogenic variants and revealed different genetic architectures between primary and secondary amenorrhea. This study expands our understanding of the genetic landscape underlying POI and provides insights that have the potential to improve diagnostic genetic screenings.
Article
Oncology
Huangbo Yuan, Tao Qing, Sibo Zhu, Xiaorong Yang, Weicheng Wu, Kelin Xu, Hui Chen, Yanfeng Jiang, Chengkai Zhu, Ziyu Yuan, Tiejun Zhang, Li Jin, Chen Suo, Ming Lu, Xingdong Chen, Weimin Ye
Summary: Defects in DNA damage repair pathways can lead to genomic instability and oncogenesis. DDR alterations in esophageal squamous cell carcinoma (ESCC) affect mutational processes and tumor immune microenvironment.
Article
Dermatology
Xingyu Zhu, Ruomei Han, Xiaoxue Tian, Mathias Hochgerner, Hui Li, Jiucun Wang, Jingjing Xia
Summary: Tapinarof has different effects on different types of psoriasis, inhibiting the development of IMQ-induced psoriatic dermatitis while aggravating the IL-23-injection model. This suggests that Tapinarof may have varying effects on different psoriasis subtypes.
EXPERIMENTAL DERMATOLOGY
(2023)
Article
Chemistry, Applied
Junyu Luo, Qili Qian, Wenxin Zheng, Ieva Gripkauskaite, Sijie Wu, Min Zhang, Jinxi Li, Bingfei Fu, Ranjit Bhogal, Peter Murray, Matthew Rowson, Bin Li, Xiangyang Xue, Xuelan Gu, Yajun Yang, Li Jin, David Andrew Gunn, Sijia Wang
Summary: This study investigated the extent to which scalp hair parameters change with age in Chinese men and women. The number of hairs per follicular unit was found to have a negative correlation with age in both men and women. Men had a greater number of hairs and follicular units than women on average, but experienced a greater decrease in the number of hairs per follicular unit with age, particularly in multi-hair follicular units. Hair loss was not random across follicular units, and a higher number of hairs per follicular unit increased the risk of hair loss. The results suggest that the presence of multi-hair follicular units on the scalp contributes to the greater susceptibility of scalp hair to hair loss compared to other body sites.
INTERNATIONAL JOURNAL OF COSMETIC SCIENCE
(2023)
Editorial Material
Multidisciplinary Sciences
Yi Li, Meng Hao, Zixin Hu, Yanyun Ma, Kun Wang, Xiaoyu Liu, Xianhong Yin, Menghan Zhang, Yi Wang, Meng Liang, Yuan Guo, Lei Bao, Shixuan Zhang, Shiguan Le, Chenyuan Wu, Dayan Sun, Yang Wei, Fei Wu, Rui Zhang, Lingxian Zhu, Hui Zhang, Shuai Jiang, Xingdong Chen, Xiaofeng Wang, Yao Zhang, Longli Kang, Wenyuan Duan, Bin Qiao, Jiucun Wang, Li Jin
NATIONAL SCIENCE REVIEW
(2023)
Article
Medicine, Research & Experimental
Wenjing Wang, Yoichi Miyamoto, Biaobang Chen, Juanzi Shi, Feiyang Diao, Wei Zheng, Qun Li, Lan Yu, Lin Li, Yao Xu, Ling Wu, Xiaoyan Mao, Jing Fu, Bin Li, Zheng Yan, Rong Shi, Xia Xue, Jian Mu, Zhihua Zhang, Tianyu Wu, Lin Zhao, Weijie Wang, Zhou Zhou, Jie Dong, Qiaoli Li, Li Jin, Lin He, Xiaoxi Sun, Ge Lin, Yanping Kuang, Lei Wang, Qing Sang
Summary: By analyzing whole-exome sequencing data of 606 women with PREMBA, researchers have identified a candidate gene KPNA7, which may contribute to the development of PREMBA. The study further revealed that KPNA7 mutations reduce protein levels, impair its binding capacity to substrate RSL1D1, and affect nuclear transport activity. Furthermore, the study found that mouse KPNA2 plays a critical role in embryonic development and its deficiency leads to embryo arrest, similar to human PREMBA cases. These findings provide a mechanistic understanding of PREMBA and a diagnostic marker for PREMBA patients.
JOURNAL OF CLINICAL INVESTIGATION
(2023)
Article
Genetics & Heredity
Siqi Dong, Xianhong Yin, Kun Wang, Wenbo Yang, Jiatong Li, Yi Wang, Yanni Zhou, Xiaoni Liu, Jiucun Wang, Xiangjun Chen
Summary: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder with both genetic and phenotypic heterogeneity. Recent studies have shown that ALS may have an oligogenic basis, where the occurrence of multiple genetic variants can have additive or synergistic deleterious effects. This study analyzed a panel of 43 relevant genes in ALS patients from east China and found that rare variants in these genes could have a negative prognostic effect, supporting the oligogenic inheritance of ALS.
Article
Genetics & Heredity
Jialin Li, Qingxia Huang, Yingzhe Wang, Mei Cui, Kelin Xu, Chen Suo, Zhenqiu Liu, Yanpeng An, Li Jin, Huiru Tang, Xingdong Chen, Yanfeng Jiang
Summary: Cardiovascular health is linked to a lower risk of cognitive decline, and this association may be mediated by metabolic perturbations. The study found that better cardiovascular health was associated with a lower risk of concentration and orientation decline. Certain blood components, such as apolipoprotein-A1 and high-density lipoprotein cholesterol, were also associated with a lower risk of memory and orientation decline. Mediation analysis suggested that cholesterol ester and total lipids in medium-size HDL may partially mediate the negative association between health status and the risk of orientation decline. These findings highlight the potential of using lipoproteins as targets for early stage dementia screening and intervention.