Article
Immunology
Chenxi Liu, Songxin Yan, Haizhen Chen, Ziyan Wu, Liubing Li, Linlin Cheng, Haolong Li, Yongzhe Li
Summary: This study found that the GTF2I rs117026326 and rs73366469 SNPs were strongly associated with SSc in the Chinese Han population, while NFKB1 rs1599961 showed a suggestive association with SSc. However, TYK2 rs2304256 was not significantly associated with SSc in this particular population.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Immunology
Juan Zhang, Ming-gui Wang, Jian-Qing He
Summary: This study reveals the association between ALOX5 gene polymorphism and susceptibility to multisystemic tuberculosis in the Chinese Han population.
MICROBIAL PATHOGENESIS
(2023)
Article
Dentistry, Oral Surgery & Medicine
Bin Yin, Jia-Yu Shi, Yan-Song Lin, Bing Shi, Zhong-Lin Jia
Summary: This study verified the association between TP63 and GREM1 by using the subphenotype of cleft lip samples, indicating TP63 as a promising susceptible gene for right-side cleft lip in the Chinese population. It further confirmed different etiology in right-sided cleft lip, left-sided cleft lip, and bilateral cleft lip of NSCLO, providing new references for future research and genetic counseling.
Article
Neurosciences
Hui-Hui Fan, Qing Guo, Jing Zheng, Yi-Zhi Lian, Shi-Shi Huang, Yue Sun, Ming Zou, Jian-Hong Zhu, Xiong Zhang
Summary: The study found a significant association between a specific SNP of the ALDH1A1 gene and Parkinson's disease susceptibility, as well as multiple haplotypes linked to PD risk. Interaction analyses suggested that specific genotype combinations may increase protection against PD, while the mRNA expression of ALDH1A1 in PD patients showed a trend of reduction.
FRONTIERS IN NEUROSCIENCE
(2021)
Article
Medicine, General & Internal
Guanghui Tong, Weiwei Tong, Ran He, Zhigang Cui, Sixuan Li, Baosen Zhou, Zhihua Yin
Summary: This study found that rs3200401 in the lncRNA MALAT1 gene is associated with the susceptibility of non-small cell lung cancer and lung squamous cell carcinoma. However, there is no significant association between rs619586 and lung cancer susceptibility. The study also discovered interactions between genes and cigarette smoking.
INTERNATIONAL JOURNAL OF MEDICAL SCIENCES
(2022)
Article
Clinical Neurology
Ziqi Wang, Jun Li, Tian Zhang, Tianlan Lu, Han Wang, Meixiang Jia, Jing Liu, Jun Xiong, Dai Zhang, Lifang Wang
Summary: The study identified a significant association between rs363018 in SNAP25 and autism in the Han Chinese population, suggesting that SNAP25 may be a susceptibility gene for autism.
PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY
(2021)
Article
Genetics & Heredity
Jie Wei, Huan Zhang, Xiaoya Ma, Yujie Li, Wenqian Zhou, Jinping Guo, Tianbo Jin, Mingjun Hu
Summary: This study investigated the association between single nucleotide polymorphisms (SNPs) of the OR51E1 gene and glioma susceptibility in the Chinese Han population. The results showed that polymorphisms rs10768148, rs7102992, and rs10500608 were associated with glioma risk in the overall sample. Stratified analyses based on gender and age revealed specific SNP-glioma associations. Additionally, synergistic and redundant relationships between certain SNPs were identified. Overall, this study provides a basis for assessing glioma risk-associated variants in the Chinese Han population.
Article
Pediatrics
Yanqing Liu, Wen Fu, Kai Fu, Xiaoyu Zuo, Wei Jia, Ning Wang, Yan Zhang, Guochang Liu, Fuming Deng
Summary: This study investigated the association between HAAO gene polymorphism rs3816183 T>C and hypospadias in a cohort of Chinese children. The results showed that the rs3816183[T] polymorphism is associated with increased risk of anterior/middle hypospadias. However, the overall risk of hypospadias could not be confirmed.
FRONTIERS IN PEDIATRICS
(2022)
Article
Respiratory System
Juan Zhang, Ming-Gui Wang, Xi Xiang, Jian-Qing He
Summary: This study suggests that there is no significant association between IL23R gene polymorphism and tuberculosis susceptibility in the Chinese Han population. However, it does indicate a potential link between IL23R polymorphism and an increased risk of developing severe tuberculosis.
BMC PULMONARY MEDICINE
(2023)
Article
Cell Biology
Fuming Deng, Jinglu Zhao, Wei Jia, Kai Fu, Xiaoyu Zuo, Lihua Huang, Ning Wang, Huiming Xia, Yan Zhang, Wen Fu, Guochang Liu
Summary: GREM1 risk allele rs3743104[G] significantly increases the risk of mild/moderate and severe hypospadias in the Southern Han population, by altering the binding affinity of miR-182 to its gene locus for regulating GREM1 expression. This study provides new evidence for the association of GREM1 rs3743104 with hypospadias susceptibility, and suggests potential for a promising biomarker and further exploration.
Article
Genetics & Heredity
Lincheng Yang, Tian Pu, Yan Zhang, Hua Yan, Haiyi Yu, Wei Gao
Summary: This study evaluates the association between SNPs of LDLR, APOB, and PCSK9 and risk of PMI in the Chinese Han population.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Jiaqi Cui, Rui Tong, Jing Xu, Yanni Tian, Juan Pan, Ning Wang, Huan Chen, Yanqi Peng, Sijia Fei, Wang Ling, Chaoying Guo, Juanchuan Yao, Wei Cui
Summary: Evidence suggests a strong genetic basis for type 2 diabetes (T2D), with activated STAT4 playing an inflammatory role as an important mediator of diabetes-related inflammation. A study in the Chinese Han population found an association between STAT4 genetic polymorphisms and T2D susceptibility, particularly highlighting the significance of rs3821236 in overall and subgroup T2D risk analyses. The findings may contribute new insights for personalized diagnosis/protection against T2D.
BMC MEDICAL GENOMICS
(2021)
Article
Immunology
Yan Li, Wei Li, Li Huang, Huijia Li, Peipeng He, Chao Xue
Summary: This study investigated the association between microscopic polyangiitis and the single nucleotide polymorphism rs807185 in autophagy-associated gene 4A (ATG4A) in the Chinese population. Using multiplex polymerase chain reaction and high-throughput sequencing, it was found that the control group had a higher frequency of the A allele of rs807185 compared to the microscopic polyangiitis group, suggesting that the A allele of rs807185 may have a protective effect against microscopic polyangiitis in the Chinese population. However, the molecular mechanisms remain unclear.
INTERNATIONAL IMMUNOPHARMACOLOGY
(2023)
Article
Multidisciplinary Sciences
Yue Zhang, Changgui Kou, Lin Jia, Yangyang Gao, Xin Li, Hao Wu, Naifei Chen, Zheng Lv
Summary: This study found an association between the rs4784227 polymorphism of CASC16 and breast cancer susceptibility, as well as its correlation with clinical characteristics of breast cancer patients. However, there was no significant association between this polymorphism and breast cancer prognosis.
Article
Clinical Neurology
Ming Zhong, Jianbo Zhang, Zhenjun Li, Ziying Liu, Haiyan Fan, Hengxian Su, Hongliang Meng, Xin Zhang, Xifeng Li, Chuan-Zhi Duan, Xuying He
Summary: This study found that NOTCH4 gene polymorphisms are associated with BAVM in the Chinese Han population and may be a risk factor.
EUROPEAN NEUROLOGY
(2023)
