scholarly journals PDGFA gene rs9690350 polymorphism increases biliary atresia risk in Chinese children

2020 ◽  
Vol 40 (7) ◽  
Author(s):  
Fei Liu ◽  
Jixiao Zeng ◽  
Deli Zhu ◽  
Xiaogang Xu ◽  
Menglong Lan ◽  
...  
Keyword(s):  
Biliary Atresia ◽  
Disease Susceptibility ◽  
Platelet Derived Growth Factor ◽  
Control Cohort ◽  
Dna Hypomethylation ◽  
Southern Chinese ◽  
Increased Risk ◽  
Genetic Biomarker ◽  
Cystic Biliary Atresia ◽  
Large Case

Abstract Biliary atresia (BA) is a genetic and severe fibro-inflammatory obliterative cholangiopathy of neonates. Platelet-derived growth factor subunit A (PDGFA), as one of participants in liver fibrosis, the overexpression of PDGFA through DNA hypomethylation may lead to the development of BA, but the pathogenesis is still unclear. We conducted a large case–control cohort to investigate the association of genetic variants in PDGFA with BA susceptibility in the Southern Chinese population (506 cases and 1473 controls). We observed that the G allele of rs9690350(G>C) in PDGFA was significantly associated with an increased risk of BA (OR = 1.24, 95% CI = 1.04–1.49, P=0.02). Additionally, the rs9690350 G allele increased the risk of non-cystic biliary atresia (OR = 1.26, 95% CI = 1.04–1.52, P=0.02) and was a genetic biomarker of severe manifestations after surgery. These findings indicate that the rs9690350 G allele is a PDGFA polymorphism associated with the risk of BA that may confer increased disease susceptibility.

Association of IL18 genetic polymorphisms with increased risk of Biliary atresia susceptibility in Southern Chinese children

Gene ◽  
2018 ◽  
Vol 677 ◽  
pp. 228-231 ◽  
Author(s):  
Jiankun Liang ◽  
Zhe Wen ◽  
Jinglu Zhao ◽  
Qifeng Liang ◽  
Tao Liu ◽  
...  
Keyword(s):  
Biliary Atresia ◽  
Genetic Polymorphisms ◽  
Chinese Children ◽  
Southern Chinese ◽  
Increased Risk

scholarly journals Association of VAMP5 and MCC genetic polymorphisms with increased risk of Hirschsprung disease susceptibility in Southern Chinese children

Aging ◽  
2018 ◽  
Vol 10 (4) ◽  
pp. 689-700 ◽  
Author(s):  
Jinglu Zhao ◽  
Xiaoli Xie ◽  
Yuxiao Yao ◽  
Qiuming He ◽  
Ruizhong Zhang ◽  
...  
Keyword(s):  
Genetic Polymorphisms ◽  
Disease Susceptibility ◽  
Hirschsprung Disease ◽  
Chinese Children ◽  
Southern Chinese ◽  
Increased Risk

scholarly journals Irrelevance of USF2 rs916145 polymorphism with the risk of biliary atresia susceptibility in Southern Chinese children

2020 ◽  
Vol 40 (2) ◽  
Author(s):  
Lei Chen ◽  
Ming Fu ◽  
Ledong Tan ◽  
Jinglu Zhao ◽  
Xiaogang Xu ◽  
...  
Keyword(s):  
Biliary Atresia ◽  
Case Control Study ◽  
Statistical Significance ◽  
Case Control ◽  
Healthy Controls ◽  
Developmental Abnormalities ◽  
Southern Chinese ◽  
Obvious Association ◽  
Control Study ◽  
Large Case

Abstract Backgrounds: Biliary atresia (BA) is a very rare neonatal disease, however, it has been the most common cause of obstructive jaundice in infancy. The complex pathogenesis of BA is not entirely clear and a lot of possible pathogenic mechanisms have been proposed to explain the etiology of BA, including genetic, inflammatory, environmental and developmental abnormalities. As a transcription factor, USF2 gene rs916145 polymorphism has been shown to be related to the risk of BA. Methods: We examined the USF2 rs916145 genotype in a large case–control study consisting of 506 BA patients and 1473 healthy controls, using the MassARRAY iPLEX Gold system (Sequenom). Odds ratios (ORs) and 95% confidence intervals (CIs) were used to evaluate the association between the USF2 gene rs916145 polymorphism and BA susceptibility. Results: The frequency of different genotypes showed no statistical significance (GG/GC, OR: 1.09, P=0.470, 95% CI: 0.87–1.35; GG/CC, OR: 0.86, P=0.378, 95% CI: 0.62–1.20). No obvious association was revealed between the USF2 gene rs916145 polymorphism and BA susceptibility. Conclusion: USF2 rs916145 polymorphism may not be the best predictor of BA.

scholarly journals Cystic biliary anomaly in a newborn with features of choledochal cyst and cystic biliary atresia

2021 ◽  
Vol 66 ◽  
pp. 101781
Author(s):  
C.L. Berkowitz ◽  
A.W. Peters ◽  
J.D. Stratigis ◽  
P.D. Barone ◽  
A.V. Kadenhe-Chiweshe ◽  
...  
Keyword(s):  
Biliary Atresia ◽  
Choledochal Cyst ◽  
Biliary Anomaly ◽  
Cystic Biliary Atresia

scholarly journals The Impact of Potassium Channel Gene Polymorphisms on Antiepileptic Drug Responsiveness in Arab Patients with Epilepsy

2018 ◽  
Vol 8 (4) ◽  
pp. 37 ◽  
Author(s):  
Laith AL-Eitan ◽  
Islam Al-Dalalah ◽  
Afrah Elshammari ◽  
Wael Khreisat ◽  
Ayah Almasri
Keyword(s):  
Potassium Channel ◽  
Disease Susceptibility ◽  
Case Control ◽  
P Value ◽  
Myoclonic Seizure ◽  
Increased Risk ◽  
Epileptic Patients ◽  
Drug Responsiveness ◽  
The Impact ◽  
Increased Susceptibility

This study aims to investigate the effects of the three potassium channel genes KCNA1, KCNA2, and KCNV2 on increased susceptibility to epilepsy as well as on responsiveness to antiepileptic drugs (AEDs). The pharmacogenetic and case-control cohort (n = 595) consisted of 296 epileptic patients and 299 healthy individuals. Epileptic patients were recruited from the Pediatric Neurology clinic at the Queen Rania Al Abdullah Hospital (QRAH) in Amman, Jordan. A custom platform array search for genetic association in Jordanian-Arab epileptic patients was undertaken. The MassARRAY system (iPLEX GOLD) was used to genotype seven single nucleotide polymorphisms (SNPs) within three candidate genes (KCNA1, KCNA2, and KCNV2). Only one SNP in KCNA2, rs3887820, showed significant association with increased risk of susceptibility to generalized myoclonic seizure (p-value < 0.001). Notably, the rs112561866 polymorphism of the KCNA1 gene was non-polymorphic, but no significant association was found between the KCNA1 (rs2227910, rs112561866, and rs7974459) and KCNV2 (rs7029012, rs10967705, and rs10967728) polymorphisms and disease susceptibility or drug responsiveness among Jordanian patients. This study suggests that a significant association exists between the KCNA2 SNP rs3887820 and increased susceptibility to generalized myoclonic seizure. However, the present findings indicate that the KCNA1 and KCNV2 SNPs do not influence disease susceptibility and drug responsiveness in epileptic patients. Pharmacogenetic and case-control studies involving a multicenter and multiethnic approach are needed to confirm our results. To improve the efficacy and safety of epilepsy treatment, further studies are required to identify other genetic factors that contribute to susceptibility and treatment outcome.

scholarly journals Early Pregnancy Exposure to Ambient Air Pollution among Late-Onset Preeclamptic Cases Is Associated with Placental DNA Hypomethylation of Specific Genes and Slower Placental Maturation

Toxics ◽  
2021 ◽  
Vol 9 (12) ◽  
pp. 338
Author(s):  
Karin Engström ◽  
Yumjirmaa Mandakh ◽  
Lana Garmire ◽  
Zahra Masoumi ◽  
Christina Isaxon ◽  
...  
Keyword(s):  
Gene Expression ◽  
Dna Methylation ◽  
Air Pollution ◽  
Early Pregnancy ◽  
Late Onset ◽  
Dispersion Model ◽  
Ambient Air ◽  
Ambient Air Pollution ◽  
Dna Hypomethylation ◽  
Increased Risk

Exposure to ambient air pollution during pregnancy has been associated with an increased risk of preeclampsia (PE). Some suggested mechanisms behind this association are changes in placental DNA methylation and gene expression. The objective of this study was to identify how early pregnancy exposure to ambient nitrogen oxides (NOx) among PE cases and normotensive controls influence DNA methylation (EPIC array) and gene expression (RNA-seq). The study included placentas from 111 women (29 PE cases/82 controls) in Scania, Sweden. First-trimester NOx exposure was assessed at the participants’ residence using a dispersion model and categorized via median split into high or low NOx. Placental gestational epigenetic age was derived from the DNA methylation data. We identified six differentially methylated positions (DMPs, q < 0.05) comparing controls with low NOx vs. cases with high NOx and 14 DMPs comparing cases and controls with high NOx. Placentas with female fetuses showed more DMPs (N = 309) than male-derived placentas (N = 1). Placentas from PE cases with high NOx demonstrated gestational age deceleration compared to controls with low NOx (p = 0.034). No differentially expressed genes (DEGs, q < 0.05) were found. In conclusion, early pregnancy exposure to NOx affected placental DNA methylation in PE, resulting in placental immaturity and showing sexual dimorphism.

Epigenetic modifications and human pathologies: cancer and CVD

2010 ◽  
Vol 70 (1) ◽  
pp. 47-56 ◽  
Author(s):  
Susan J. Duthie
Keyword(s):  
Dna Methylation ◽  
Human Cancer ◽  
Dna Methyltransferases ◽  
Water Soluble ◽  
Leafy Vegetables ◽  
Dna Hypomethylation ◽  
Human Diet ◽  
Human Colon Cancer ◽  
Increased Risk ◽  
Risk Of Cancer

Epigenetic changes are inherited alterations in DNA that affect gene expression and function without altering the DNA sequence. DNA methylation is one epigenetic process implicated in human disease that is influenced by diet. DNA methylation involves addition of a 1-C moiety to cytosine groups in DNA. Methylated genes are not transcribed or are transcribed at a reduced rate. Global under-methylation (hypomethylation) and site-specific over-methylation (hypermethylation) are common features of human tumours. DNA hypomethylation, leading to increased expression of specific proto-oncogenes (e.g. genes involved in proliferation or metastasis) can increase the risk of cancer as can hypermethylation and reduced expression of tumour suppressor (TS) genes (e.g. DNA repair genes). DNA methyltransferases (DNMT), together with the methyl donor S-adenosylmethionine (SAM), facilitate DNA methylation. Abnormal DNA methylation is implicated not only in the development of human cancer but also in CVD. Polyphenols, a group of phytochemicals consumed in significant amounts in the human diet, effect risk of cancer. Flavonoids from tea, soft fruits and soya are potent inhibitors of DNMT in vitro, capable of reversing hypermethylation and reactivating TS genes. Folates, a group of water-soluble B vitamins found in high concentration in green leafy vegetables, regulate DNA methylation through their ability to generate SAM. People who habitually consume the lowest level of folate or with the lowest blood folate concentrations have a significantly increased risk of developing several cancers and CVD. This review describes how flavonoids and folates in the human diet alter DNA methylation and may modify the risk of human colon cancer and CVD.

Sign in / Sign up

Export Citation Format

Share Document