Epistatic Association of CD14 and NOTCH2 Genetic Polymorphisms with Biliary Atresia in a Southern Chinese Population

Lin, Zefeng; Xie, Xiaoli; Lin, Huiting; Fu, Ming; Su, Liang; Tong, Yanlu; Chen, Hongjiao; Wang, Hezhen; Zhao, Jianhao; Xia, Huimin; Zhang, Yan; Zhang, Ruizhong

doi:10.1016/j.omtn.2018.10.006

Cited by 10 publications

(11 citation statements)

References 33 publications

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“…These include Adducin 3 (ADD3) [42][43][44][45][46] , ADP-ribosylation factor 6 (ARF6) 48 , EGF Containing Fibulin Extracellular Matrix Protein 1 (EFEMP1) 49,50 , Glypican 1 (GPC1) 46,51,52 , NOTCH2 (with CD14 -epistatic) 53 , and JAG1 54 .…”

Section: Accepted Manuscriptmentioning

confidence: 99%

Genetic Contributions to Biliary Atresia: A Developmental Cholangiopathy

Hellen,

Karpen

2023

Semin Liver Dis

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Biliary atresia (BA) is the most prevalent serious liver disease of infancy and childhood, and the principal indication for liver transplantation in pediatrics. BA is best considered as an idiopathic panbiliary cholangiopathy characterized by obstruction of bile flow and consequent cholestasis presenting during fetal and perinatal periods. While a number of etiologies have been proposed, each has significant drawbacks that have limited understanding of disease progression and the development of effective treatments. Recently, modern genetic analyses have uncovered gene variants contributing to BA, thereby shifting the paradigm for explaining the BA phenotype from an acquired etiology (e.g., virus, toxin) to one that results from genetically-altered cholangiocyte development and function. Herein we review recently reported genetic contributions to BA, highlighting the enhanced representation of variants in biological pathways involving ciliary function, cytoskeletal structure, and inflammation. Finally, we blend these findings as a new framework for understanding the resultant BA phenotype as a developmental cholangiopathy.

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Section: Accepted Manuscriptmentioning

confidence: 99%

Genetic Contributions to Biliary Atresia: A Developmental Cholangiopathy

Hellen,

Karpen

2023

Semin Liver Dis

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“…According to previous reports, the miR-100 gene take part in the notch pathway and activates HES1 [ 30 ], indicating that it is an important regulatory factor in developmental disabilities [ 31 ] and the cellular growth cycle [ 32 , 33 ]. It is worth mentioning that the notch pathway was shown to regulate BA pathogenesis in our previous study [ 34 ]. In addition, the miR-100 gene is also involved in the inflammatory response.…”

Section: Discussionmentioning

confidence: 99%

MiR-100 rs1834306 A>G Increases Biliary Atresia Risk in Southern Han Chinese Children

Chang

Liang

Chai

et al. 2023

BioMed Research International

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Background. Biliary atresia (BA) is a type of severe cholestatic childhood disease that may have a genetic component. miR-100 plays a key role in regulating cell apoptosis, proliferation, and inflammatory reactions. A single-nucleotide polymorphism in miR-100 has been proven to modulate susceptibility to various diseases. Methods. We conducted a case-control retrospective study to explore the correlation between miR-100 gene polymorphism (rs1834306 A>G) and biliary atresia susceptibility in 484 Chinese patients and 1445 matched control subjects. Results. Our results showed that rs1834306 A>G was correlated with a significantly increased risk for BA (GG vs. AA: adjusted odds ratio OR = 1.44 , 95 % confidence interval CI = 1.02 – 2.03 , p = 0.041 ; and GG vs. AA/AG: adjusted OR = 1.39 , 95 % CI = 1.02 – 1.89 , p = 0.036 ). Conclusions. Our results showed that the rs1834306 A>G polymorphism is associated with an increased risk for BA and contributes to BA susceptibility.

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“…58 Especially in ethnicities with apparently higher susceptibility for BA, like New Zealand Maori and Southern Chinese, genetic footprints were researched and have shown associated genetic polymorphisms. [59][60][61] Tian et al recently presented another important step to an in vitro human BA model, based on disease-specific induced pluripotent stem cells (iPSCs) and showing that BA-specific iPSCs result in defective biliary differentiation. 62 In the future, this result could potentially help to recapitulate key disease features from a patient's iPSCs.…”

Section: Discussionmentioning

confidence: 99%

Translational Research in Biliary Atresia: News from Mice and Men

Madadi-Sanjani

Petersen

2019

Eur J Pediatr Surg

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Biliary atresia (BA) is a fibro-obliterative cholangiopathy of unknown etiology. While Kasai portoenterostomy achieves temporary biliary drainage in some cases, BA remains the most common indication for liver transplantation during childhood. During the last few decades, observations on BA, like cholestatic diseases in animals and the introduction of different animal models for BA, have not achieved the anticipated results, and we are still not able to translate the basic research to the patient's bedside. This article presents a review of the literature on available BA animal models and gives a glimpse of future developments.

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Epistatic Association of CD14 and NOTCH2 Genetic Polymorphisms with Biliary Atresia in a Southern Chinese Population

Cited by 10 publications

References 33 publications

Genetic Contributions to Biliary Atresia: A Developmental Cholangiopathy

Genetic Contributions to Biliary Atresia: A Developmental Cholangiopathy

MiR-100 rs1834306 A>G Increases Biliary Atresia Risk in Southern Han Chinese Children

Translational Research in Biliary Atresia: News from Mice and Men

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