Abstract | BACKGROUND: METHODS: We analyzed all 27 ATP8B1 coding exons and adjacent non-coding sequences of 507 chronic pancreatitis patients by direct sequencing. Exons that harbored possible relevant variations were subsequently sequenced in 1,027 healthy controls. RESULTS: In the exonic regions, 5 novel non-synonymous alterations were detected as well as 14 previously described alterations of which some were associated with ATP8B1 deficiency. However, allele frequencies for any of these variations did not significantly differ between patients and controls. Furthermore, several non-synonymous variants were exclusively detected in control subjects and multiple variants in the non-coding sequence were identified with similar frequencies in both groups. CONCLUSIONS:
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Authors | Wendy L van der Woerd, Désirée Y van Haaften-Visser, Stan F J van de Graaf, Claude Férec, Emmanuelle Masson, Janneke M Stapelbroek, Peter Bugert, Heiko Witt, Roderick H J Houwen |
Journal | PloS one
(PLoS One)
Vol. 8
Issue 11
Pg. e80553
( 2013)
ISSN: 1932-6203 [Electronic] United States |
PMID | 24260417
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Adenosine Triphosphatases
- ATP8B1 protein, human
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Topics |
- Adenosine Triphosphatases
(genetics)
- Alleles
- Case-Control Studies
- Exons
- Genotype
- Humans
- Introns
- Mutation
- Pancreatitis, Chronic
(genetics)
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