ArticleDigestive diseases and sciences2015
Targeted next-generation sequencing effectively analyzed the cystic fibrosis transmembrane conductance regulator gene in pancreatitis.
Article in Digestive diseases and sciences, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 22 citations in OpenAlex.
- TRPV6-related pancreatitis: natural history and the impact of the pancreas-specific deletion on pancreatitis in mice.Journal of gastroenterology · 2026Article
- Clinical and genetic characteristics of diseases caused by CFTR gene mutations in 15 Chinese children: a retrospective analysis.BMC pediatrics · 2025Article
- Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?Journal of assisted reproduction and genetics · 2022Observational
- A Novel Homozygous Missense Mutation in the Zinc Finger DNA Binding Domain of GLI1 Causes Recessive Post-Axial Polydactyly.Frontiers in genetics · 2021Article
- Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel.Scientific data · 2020Article
- TheHuman genome variation · 2019Article
- Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis.BMC medical genomics · 2018Article
- Nationwide survey of hereditary pancreatitis in Japan.Journal of gastroenterology · 2018Article
- Article
- Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.Molecular genetics & genomic medicine · 2015Article
- Functional characteristics of L1156F-CFTR associated with alcoholic chronic pancreatitis in Japanese.American journal of physiology. Gastrointestinal and liver physiology · 2015Article
- A robust protocol to increase NimbleGen SeqCap EZ multiplexing capacity to 96 samples.PloS one · 2015Article
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8 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundThe cystic fibrosis transmembrane conductance regulator (CFTR) gene, responsible for the development of cystic fibrosis, is known as a pancreatitis susceptibility gene. Direct DNA sequencing of PCR-amplified CFTR gene segments is a first-line method to detect unknown mutations, but it is a tedious and labor-intensive endeavor given the large size of the gene (27 exons, 1,480 amino acids). Next-generation sequencing (NGS) is becoming standardized, reducing the cost of DNA sequencing, and enabling the generation of millions of reads per run. We here report a comprehensive analysis of CFTR variants in Japanese patients with chronic pancreatitis using NGS coupling with target capture.
methodsExon sequences of the CFTR gene from 193 patients with chronic pancreatitis (121 idiopathic, 46 alcoholic, 17 hereditary, and nine familial) were captured by HaloPlex target enrichment technology, followed by NGS.
resultsThe sequencing data covered 91.6 % of the coding regions of the CFTR gene by ≥ 20 reads with a mean read depth of 449. We could identify 12 non-synonymous variants including three novel ones [c.A1231G (p.K411E), c.1753G>T (p.E585X) and c.2869delC (p.L957fs)] and seven synonymous variants including three novel ones in the exonic regions. The frequencies of the c.4056G>C (p.Q1352H) and the c.3468G>T (p.L1156F) variants were higher in patients with chronic pancreatitis than those in controls.
conclusionsTarget sequence capture combined with NGS is an effective method for the analysis of pancreatitis susceptibility genes.
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