RGD Reference Report - Polymorphisms of 5,10-methylenetetrahydrofolate reductase (MTHFR C677T) and thymidylate synthase enhancer region (TSER) as a risk factor of cholangiocarcinoma in a Korean population.

General

Polymorphisms of 5,10-methylenetetrahydrofolate reductase (MTHFR C677T) and thymidylate synthase enhancer region (TSER) as a risk factor of cholangiocarcinoma in a Korean population.
Authors:	Ko, KH Kim, NK Yim, DJ Hong, SP Park, PW Rim, KS Kim, S Hwang, SG
Citation:	Ko KH, etal., Anticancer Res. 2006 Nov-Dec;26(6B):4229-33.
RGD ID:	2317119
Pubmed:	PMID:17201138 (View Abstract at PubMed)
BACKGROUND: 5,10-Methylenetetrahydrofolate reductase (MTHFR), a key enzyme in folate metabolism, plays a major role in the provision of methyl groups for DNA methylation; thymidylate synthase (TS) is a rate-limiting enzyme in the synthesis of dTMP and DNA repair. The clinical role of genetic polymorphisms of MTHFR and that of the TS enhancer region (TSER) were demonstrated in several clinical studies with colorectal, esophageal, gastric and breast cancer. However, there have never been any studies on the association between cholangiocarcinoma (CCC) and genetic polymorphisms of MTHFR and TSER. Therefore, the polymorphism of MTHFR and TSER, which share a common substrate, 5,10-methylenetetrahydrofolate, in CCC was examined, concurrently. The influence of these polymorphisms on plasma homocysteine levels was also investigated. PATIENTS AND METHODS: Blood samples were obtained from 47 patients with CCC and 204 healthy control donors. Using polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP), the C to T transition at position 677 of MTHFR and tandem repeat of 28bp in the enhancer region of TS gene were analyzed. Plasma homocysteine levels were also determined. RESULTS: According to the logistic regression model, a combination of MTHFR 677CC with the TSER 2R(+) genotype had a relative risk of 5.38 (95% CI, 1.23-23.56) of developing CCC compared to MTHFR 677CC with TSER 2R(-) (p = 0.0257). The level of homocysteine was lower in CCC patients than healthy controls without statistical significance (8.27 +/- 4.17 vs. 9.40 +/- 2.57, p = 0.093). CONCLUSION: Our data suggest a role of MTHFR 677CC with the TSER 2R(+) genotype in increasing the risk of CCC. This study is the first to suggest an association between CCC and the polymorphisms of MTHFR and TSER.

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Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
cholangiocarcinoma	susceptibility	IAGP		2317119	DNA:polymorphism (human)	RGD
cholangiocarcinoma	susceptibility	ISO	MTHFR (Homo sapiens)	2317119; 2317119	DNA:polymorphism (human)	RGD

Objects Annotated

Genes (Rattus norvegicus)

Mthfr (methylenetetrahydrofolate reductase)

Genes (Mus musculus)

Mthfr (methylenetetrahydrofolate reductase)

Genes (Homo sapiens)

MTHFR (methylenetetrahydrofolate reductase)

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Polymorphisms of 5,10-methylenetetrahydrofolate reductase (MTHFR C677T) and thymidylate synthase enhancer region (TSER) as a risk factor of cholangiocarcinoma in a Korean population.