ABCMdb

PMID: 25869325

Chang MC, Jan IS, Liang PC, Jeng YM, Yang CY, Tien YW, Wong JM, Chang YT
Cystic fibrosis transmembrane conductance regulator gene variants are associated with autoimmune pancreatitis and slow response to steroid treatment.
J Cyst Fibros. 2015 Sep;14(5):661-7. doi: 10.1016/j.jcf.2015.03.009. Epub 2015 Apr 11., [PubMed]

Sentences

No. Mutations Sentence Comment

8 ABCC7 p.Arg553* ABCC7 p.Arg31Cys ABCC7 p.Gly1069Arg ABCC7 p.Ser42Phe ABCC7 p.Ile556Val ABCC7 p.Ile125Thr ABCC7 p.Ser895Asn Results: A total of 28.1% (25/89) of the AIP patients carried 26 CFTR variants, including nine with I556V, seven with 5T, four with S42F, two with I125T, and one each with R31C, R553X, S895N, and G1069R. Login to comment 112 ABCC7 p.Arg553* ABCC7 p.Arg31Cys ABCC7 p.Gly1069Arg ABCC7 p.Ser42Phe ABCC7 p.Ile556Val ABCC7 p.Ser895Asn The identified variants included I556V in nine patients, 5T in seven, S42F in four, I125T in two, and R31C, R553X, S895N, and G1069R each in one patient (Table 1). Login to comment 140 ABCC7 p.Arg553* ABCC7 p.Arg31Cys ABCC7 p.Gly1069Arg ABCC7 p.Ser895Thr ABCC7 p.Ser42Phe ABCC7 p.Ile556Val AIP (n = 89) CFTR variants n = 26 % in AIP % with variant I556V 9 10.1% 34.6% 5 T 7 7.9% 26.9% S42F 4 4.5% 15.4% I125T 2 2.2% 7.7% R31C 1 1.1% 3.8% R553X 1 1.1% 3.8% S895T 1 1.1% 3.8% G1069R 1 1.1% 3.8% Table 2 Comparison of patients with and without CFTR variants in 89 patients with autoimmune pancreatitis. Login to comment 149 ABCC7 p.Ser42Phe ABCC7 p.Ile556Val The most common CFTR variant in AIP patients was I556V (34.6%), followed by the T5 allele in intron 8 (26.9%) and S42F (15.4%). Login to comment 151 ABCC7 p.Ser42Phe The S42F mutation was not detected in ICP and HLP patients in our previous studies [19,20]. Login to comment 152 ABCC7 p.Ile556Val The CFTR variant I556V was the most common variant in HLP [20], ICP [19], and AIP patients in our studies. Login to comment