Table 5.
Patient | Gender | Physician-defined alcohol etiology | Drinking Category* | Smoking status* | Smoking amount* | Gene affected | Type of mutation |
---|---|---|---|---|---|---|---|
1 | Female | Yes | Very Heavy | Never | – | PRSS1 | R122H G/A |
2 | Male | No | Abstainer | Current | <1 ppd | PRSS1 | R122C C/T |
3 | Male | Yes | Very Heavy | Current | <1 ppd | SPINK1 | N34S heterozygous |
4 | Male | Yes | Very Heavy | Past | <1 ppd | SPINK1 | N34S heterozygous |
5 | Male | Yes | Very Heavy | Current | <1 ppd | SPINK1 | N34S heterozygous |
6 | Female | Yes | Very Heavy | Current | >1 ppd | SPINK1 | N34S heterozygous |
7 | Female | No | Abstainer | Current | ≥1 ppd | CTRC | R254W |
8 | Male | Yes | Heavy | Current | <1 ppd | CFTRSev + CFTRBD | 3120+1GtoA + L967S |
9 | Female | No | Light | Past | <1 ppd | CFTR Sev | F508del |
10 | Male | No | Heavy | Current | <1 ppd | CFTR BD | R74W-D1270 N |
11 | Male | Yes | Heavy | Current | ≥1 ppd | CFTR BD | R74W-D1270 N |
12 | Male | Yes | Very Heavy | Current | <1 ppd | CFTR BD | R74W-D1270 N |
13 | Female | Yes | Heavy | Current | <1 ppd | CFTR BD | R74W-D1270 N |
14 | Female | Yes | Unknown | Current | ≥1 ppd | CFTR BD | R74W-D1270 N |
15 | Female | Yes | Very Heavy | Current | <1 ppd | CFTR BD | R74W-D1270 N |
16 | Female | Yes | Abstainer | Past | <1 ppd | CFTR BD | R74W-D1270 N |
17 | Female | No | Moderate | Past | <1 ppd | CFTR BD | R75Q |
18 | Female | Yes | Very Heavy | Current | <1 ppd | CFTR BD | R75Q |
19 | Female | Yes | Very Heavy | Current | <1 ppd | CFTR BD | 3120+1GtoA |
AA – African ancestry; CP – chronic pancreatitis.
Based on self-report.