Table 8.
Genetic polymorphisms as Potential Risk factors of Cholangiocarcinoma
| First author | Country | Polymorphism | CC Type | Cases | Controls | Risk estimate (95% CI) | Selected adjusted variables |
|---|---|---|---|---|---|---|---|
| Ko59 | Korea | MTHFR 677CC + TSER 2R+ | NS | 47 | 204 | 5.38 (1.2–23.6) | |
| Marahatta60 | Thailand | GSTO1*A140D | NS | 30 | 98 | 8.5 (2.1–37.8) | Sex, race |
| Hoblinger57 | Germany | MRP2/ABCC2 variant c.3972C>T | ICC/ECC | 60 | 73 | 1.83 (1.1–3.1) | |
| Melum61 | Scandinavia | NKG2D rs11053781 + PSC | NS | 49 | 368 | 2.08 (1.3–3.3) | Sex |
| NKG2D rs2617167 + PSC | NS | 49 | 368 | 2.32 (1.5–3.7) | |||
| MICA 5.1 + PSC | NS | 49 | 368 | 0.43 (0.2–0.9) | |||
| Prawan62 | Thailand | # CYP1A2*1A/*1A | NS | 216 | 233 | 0.28 (0.1–0.9) | Age, sex |
| NAT2* 13,*6B,*7A | NS | 216 | 233 | 0.26–0.38 | |||
| Huang58 | China | XRCCI 194W | NS | 127 | 786 | 1.9 (1.1–3.5) | Age, sex, hospital |
| XRCC1 R280H | NS | 127 | 786 | 0.5 (0.3–0.9) | |||
| Sakoda63 | China | PTGS2 Ex 10 +837 C | NS | 127 | 786 | 1.8 (1.2–2.7) | Age, sex, hospital |
In males
MTHFR = 5,10-Methylenetetrahydrofolate reductase is a key enzyme in folate metabolism and provides methyl groups for DNA methylation
TS = Thymidylate synthase is a rate-limiting enzyme in the synthesis of dTMP and DNA repair
GST = Glutathione S-transferases are a family of detoxification enzymes
MRP2/ABC2 = Multidrug resistance-associated protein 2 is one of the ATP-binding cassette transporters that is involved in biliary clearance of endogenous and exogenous toxic compounds
PSC = Primary sclerosing cholangitis
NKG2D = Natural killer cell receptor is involved in activation of natural killer (NK) cells which are important for tumor surveillance
MICA = Major histocompatibility complex class I chain-related molecule A is a ligand to NKG2D
CYP1A2 = member of cytochrome P450 involved in activation of carcinogens
NAT = N-acetyltransferases are involved in metabolism and detoxification of amines
BER = Base excision repair corrects DNA damage caused by oxidative stress which encompass the x-ray repair cross complementing group 1 (XRCC1)
PTGS2 = Prostaglandin-endoperoxide synthase 2 is induced by inflammation
CC= Cholangiocarcinoma
NS= Not specified
ICC= Intrahepatic cholangiocarcinoma
ECC= Extrahepatic cholangiocarcinoma
CI= Confidence interval