4.1 Article

Association of LPR5 Polymorphism with Bone Mass Density and Cholesterol Level in Population of Chinese Han

期刊

出版社

JOHANN AMBROSIUS BARTH VERLAG MEDIZINVERLAGE HEIDELBERG GMBH
DOI: 10.1055/s-0029-1225613

关键词

-

资金

  1. Outstanding Youth Science Foundation of Tongji University [2007KJ065]
  2. Health Bureau of Jinan city in Shandong [2007058]
  3. National Natural Science Foundation [30890034]

向作者/读者索取更多资源

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.1
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

Article Genetics & Heredity

Homozygous variants in AKAP3 induce asthenoteratozoospermia and male infertility

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

Education, neighborhood environment, and cognitive decline: Findings from two prospective cohort studies of older adults in China

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

PGG.SV: a whole-genome-sequencing-based structural variant resource and data analysis platform

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)

Article Rheumatology

An ankylosing spondylitis risk variant alters osteoclast differentiation

Fangyi Wu, Xuling Han, Jing Liu, Zhenghua Zhang, Kexiang Yan, Beilan Wang, Lin Yang, Hejian Zou, Chengde Yang, Wei Huang, Li Jin, Jiucun Wang, Feng Qian, Zhenmin Niu

Summary: This study explores the association between variants in non MHC proteasome gene and AS, and finds that the rs12717 SNP in PSMB1 gene is significantly associated with AS. The study also discovers that PSMB1 regulates the RANK/RANKL signaling pathway and affects bone formation by inhibiting osteoclast differentiation.

RHEUMATOLOGY (2023)

Article Genetics & Heredity

Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA

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

Ancient genome of Empress Ashina reveals the Northeast Asian origin of Gokturk Khanate

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

Landscape of pathogenic mutations in premature ovarian insufficiency

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.

NATURE MEDICINE (2023)

Article Oncology

The effects of altered DNA damage repair genes on mutational processes and immune cell infiltration in esophageal squamous cell carcinoma

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.

CANCER MEDICINE (2023)

Article Genetics & Heredity

Deficiency of primate-specific SSX1 induced asthenoteratozoospermia in infertile men and cynomolgus monkey and tree shrew models

Chunyu Liu, Wei Si, Chaofeng Tu, Shixiong Tian, Xiaojin He, Shengnan Wang, Xiaoyu Yang, Chencheng Yao, Cong Li, Zine-Eddine Kherraf, Maosen Ye, Zixue Zhou, Yuhua Ma, Yang Gao, Yu Li, Qiwei Liu, Shuyan Tang, Jiaxiong Wang, Hexige Saiyin, Liangyu Zhao, Liqun Yang, Lanlan Meng, Bingbing Chen, Dongdong Tang, Yiling Zhou, Huan Wu, Mingrong Lv, Chen Tan, Ge Lin, Qingpeng Kong, Hong Shi, Zhixi Su, Zheng Li, Yong-Gang Yao, Li Jin, Ping Zheng, Pierre F. Ray, Yue-Qiu Tan, Yunxia Cao, Feng Zhang

Summary: Primate-specific genes (PSGs) expressed in the brain and testis are consistent with brain evolution in primates. The identification of deleterious variants of the X-linked SSX1 gene in men with asthenoteratozoospermia highlights its crucial role in spermatogenesis. Knocking down Ssx1 expression in non-human primate and tree shrew models resulted in reduced sperm motility and abnormal sperm morphology, reflecting the phenotype observed in humans. This study has important implications for genetic counseling and clinical diagnosis, and provides insights into the functions of testis-enriched PSGs in spermatogenesis.

AMERICAN JOURNAL OF HUMAN GENETICS (2023)

Article Environmental Sciences

Trace elements in hair or fingernail and gastroesophageal cancers: results from a population-based case-control study

Tongchao Zhang, Xiaolin Yin, Xiaorong Yang, Ziyu Yuan, Qiyun Wu, Li Jin, Xingdong Chen, Ming Lu, Weimin Ye

Summary: This study investigated the association between 12 trace elements and gastroesophageal cancers (GOC) using hair and fingernail samples collected from GOC cases and controls in Taixing, China. The results showed that higher levels of Ca, Zn, Fe, Al, Cr, Pb, Se, and V were positively associated with increased GOC, while higher levels of Mg, Mn, Sr, and As were inversely associated with GOC. Interaction effects between hair level of Cr and smoking or alcohol drinking were also observed.

JOURNAL OF EXPOSURE SCIENCE AND ENVIRONMENTAL EPIDEMIOLOGY (2023)

Article Multidisciplinary Sciences

A pangenome reference of 36 Chinese populations

Yang Gao, Xiaofei Yang, Hao Chen, Xinjiang Tan, Zhaoqing Yang, Lian Deng, Baonan Wang, Shuang Kong, Songyang Li, Yuhang Cui, Chang Lei, Yimin Wang, Yuwen Pan, Sen Ma, Hao Sun, Xiaohan Zhao, Yingbing Shi, Ziyi Yang, Dongdong Wu, Shaoyuan Wu, Xingming Zhao, Binyin Shi, Li Jin, Zhibin Hu, Yan Lu, Jiayou Chu, Kai Ye, Shuhua Xu

Summary: The data from the Chinese Pangenome Consortium's first phase reveals a substantial increase in the discovery of novel and missing sequences when individuals from underrepresented minority ethnic groups are included. The missing reference sequences contain archaic-derived alleles and genes related to keratinization, response to ultraviolet radiation, DNA repair, immunological responses, and lifespan, suggesting great potential for understanding human evolution and filling in missing heritability in complex diseases.

NATURE (2023)

Article Chemistry, Applied

Scalp hair loss is not random across follicular units: A new insight into human hair ageing

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

The composite phenotype analysis identifies potential concerted responses of physiological systems to high altitude exposure

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

Karyopherin α deficiency contributes to human preimplantation embryo arrest

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

Circulating Lipoproteins Mediate the Association Between Cardiovascular Risk Factors and Cognitive Decline: A Community-Based Cohort Study

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.

PHENOMICS (2023)

暂无数据