A novel SPINK1 gene mutation, c.206C>T, in a Thai patient with chronic alcoholic pancreatitis.
BACKGROUND
The exact mechanism of alcoholic pancreatitis has not yet been clarified. Recent studies suggest that alcohol represents only a risk factor for developing pancreatic inflammation in genetic or environmental susceptible subjects. In this regard, various genes involving an alcohol-metabolizing pathway or pancreatitis protecting factors have been extensively studied in order to identify genetic predisposition to alcoholic pancreatitis.


METHODS
A 43-year-old man with a history of heavy alcohol drinking presented with recurrent abdominal pain. Alcoholic pancreatitis was diagnosed and responded well to pancreatic stricture dilatation with stent insertion. Sequencing analysis revealed that he was heterozygous for a novel transition c.206C>T in exon 4 of the SPINK1 gene, resulting in the substitution of threonine for isoleucine at codon 69 (T69I). Evidence supporting its etiologic role includes the alteration of the polarity of the amino acid change, its revolutionary conservation among mammals and its absence in 100 ethnic-matched control alleles.


CONCLUSIONS
We identified a novel SPINK1 mutation, c.206C>T (T69I), in a Thai patient with alcoholic pancreatitis. This extends the total number of confirmed SPINK1 mutations and polymorphisms to more than 30. It also supports a previous observation that the SPINK1 gene is a susceptibility locus for alcoholic pancreatitis.
Rerknimitr
Rungsun
R
Department of Internal Medicine, Faculty of Medicine, Chulalongkorn University. Bangkok, Thailand.
Shotelersuk
Vorasuk
V
Buranasupkajorn
Patinut
P
Plengpanich
Wanee
W
Snabboon
Thiti
T
D000328:Adult; D000595:Amino Acid Sequence; D002352:Carrier Proteins / Q000235:genetics*; D002908:Chronic Disease; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D019512:Pancreatitis, Alcoholic / Q000000981:diagnostic imaging / Q000235:genetics*; D017354:Point Mutation; D013785:Thailand; D014057:Tomography, X-Ray Computed; D014359:Trypsin Inhibitor, Kazal Pancreatic
D002352:Carrier Proteins; C486642:SPINK1 protein, human; D014359:Trypsin Inhibitor, Kazal Pancreatic