Genetics of acute and chronic pancreatitis: An update

Table 1 General genetic information of the genes which confer susceptibility to pancreatitis¹

Name of the gene	Chromosome	No. of splice variants	Length (bp)of exon region	No. of exons
CTRC	1	4	898	8
CASR	3	4	5009	7
PRSS1	7	6	800	5
CTSB	8	35	3875	10
SPINK1	5	3	542	4
CFTR	7	11	6128	27
CLDN2	X	3	3150	2

¹Extracted from ENSEMBL.

Table 2 Summary¹ of the polymorphisms in genes related to pancreatitis

Name of the gene	Upstream gene variants	Downstream gene variants	Non-coding exon variants	Synonymous variants	Missense variants	Stop gained	Intron variants
CTRC	490	430	102	28	57	5	789
CASR	580	732	129	433	1459	57	4707
PRSS1	1031	1634	431	126	280	6	637
CTSB	5763	11413	621	682	1261	10	18675
SPINK1	366	252	38	8	37	0	236
CFTR	1193	2377	87	447	2533	558	13723
CLDN2	205	171	0	36	78	0	560

¹Extracted from ENSEMBL Upstream Gene variants: A sequence variant located 5’ of a gene. Downstream gene variants: A sequence variant located 3’ of a gene. Non-coding exon variants: A sequence variant that changes non-coding exon sequence. Synonymous variants: There is no change in the resulting aminoacid. Missense variants: Variant that changes one or more bases, resulting in a different aminoacid but where the length is preserved. Stop gained: Sequence variant whereby at least one base of a codon is changed, resulting in premature stop codon, leading to a shortened transcript. Intron variants: a variant occurring within an intron. CTRC: Chymotrypsin C; CASR: Calcium sensing Receptor; PRSS1: Trypsinogen Gene; CTSB: Cathepsin B; SPINK1: Serine protease inhibitor kazal type 1; CFTR: Cystic fibrosis transmembrane conductance regulator; CLDN2: Claudin 2.