• 대한예방의학회:학술대회논문집
• /
• 대한예방의학회 2004년도 제56차 추계 학술대회 연제집
• /
• pp.41.1-41.1
• /
• 2004

• Asian Pacific Journal of Cancer Prevention
• /
• 제13권5호
• /
• pp.2193-2197
• /
• 2012

Background: Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the metabolism of folate, and the role of MTHFR C677T polymorphism in cervical carcinogenesis is still controversial. Method: We performed a meta-analysis of all relevant case-control studies that examined any association between the C677T polymorphism and cervical cancer risk. We estimated summary odds ratios (ORs) with their confidence intervals (CIs) to assess links. Results: Finally, 10 studies with a total of 2113 cervical cancer cases and 2804 controls were included. Results from this meta-analysis showed that significantly elevated cervical cancer risk was associated with the MTHFR T allele in the Asian population under conditions of two genetic comparison models (for TT vs. CC, OR = 1.37, 95%CI 1.00-1.87, P = 0.050; for TT vs. TC+CC: OR = 1.34, 95%CI 1.01-1.77, P = 0.039). However, there was no obvious association between the MTHFR C677T polymorphism and cervical cancer risk in the other populations. Conclusion: The MTHFR C677T polymorphism is associated with cervical cancer risk in Asians, while any possible link in the Caucasian population needs further studies.

• 대한예방의학회:학술대회논문집
• /
• 대한예방의학회 2004년도 제56차 추계 학술대회 연제집
• /
• pp.38.3-39
• /
• 2004

• Asian Pacific Journal of Cancer Prevention
• /
• 제15권21호
• /
• pp.9259-9264
• /
• 2014

Background: Previous studies concerning the association between the 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism with lung cancer in Asian populations have provided inconclusive findings. Aim: A meta-analysis was performed to investigate a more reliable association between MTHFR C677T polymorphism and lung cancer in Asians. Materials and Methods: A comprehensive search was conducted to identify all case-control studies of MTHFR polymorphisms and lung cancer in Asia, using odds ratios (ORs) with 95% confidence intervals (CIs) to assess the strength of any association. Results: Meta-analysis results suggested that the MTHFR C677T polymorphism contributed to an increased lung cancer risk in Asian populations (for T vs C: OR=1.11, 95%CI=1.0-1.23; for CT vs CC: OR= 1.1, 95%CI= 0.95-1.2 ; for TT+CT vs CC: OR=1.13, 95%CI=1.0-1.30; for TT vs CC: OR=1.25, 95%CI=1.01-1.30; for TT vs CT+CC: OR=1.16, 95%CI=1.0-1.36). Conclusions: MTHFR C677T polymorphism is significantly associated with lung cancer in Asians.

• Asian Pacific Journal of Cancer Prevention
• /
• 제15권15호
• /
• pp.6333-6337
• /
• 2014

Background: In this case-control study, we aimed to investigate the relationship between the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and lung cancer. Materials and Methods: Total 200 individuals including 100 patients with lung cancer and 100 controls were analyzed. Genotyping of MTHFR C677T was performed using PCR and RFLP methods. Results: The majority of the patients were men and 90% were smokers. We found that the risk ratio for development of LC was 13-times higher in smokers compared with non-smokers between patient and control groups in our study (OR:13.5, 95%CI:6.27-29.04, p:0.0001). Besides, the risk ratio for development of LC was nine times higher in individuals with cancer history in their family than those without cancer history (OR:9.65, 95%CI: 2.79-33.36; p:0.0001). When genotype distributions and allele frequencies were analyzed in the study groups, no significant difference was apparent (${\chi}^2$:0.53, p=0.76). In addition, no correlation between genotypes of MTHFRC677T polymorphism and histological type of LC was found (${\chi}^2$:0.99, p=0.60). Conclusions: These results suggest that there was no association between the MTHFR C677T polymorphism and lung cancer in the Turkish population.

• Asian Pacific Journal of Cancer Prevention
• /
• 제14권5호
• /
• pp.3163-3168
• /
• 2013

Methylenetetrahydrofolate reductase (MTHFR) plays a central role in folate metabolism. This study with 381 esophageal cancer patients and 432 healthy controls was conducted to examine the association of MTHFR C677T and A1298C polymorphisms with susceptibility to esophageal cancer (EC) in a Chinese population. Compared with the CC genotype of MTHFR C677T, subjects carrying homozygote TT and variant genotypes (CT+TT) demonstrated reduced risk of EC with adjusted ORs (95% CI) of 0.44 (0.28-0.71) and 0.57 (0.37-0.88), respectively. However, no association was found between the MTHFR A1298C polymorphism and the risk of EC. Comparing to haplotype CA, haplotypes TA and TC could reduce the susceptibility to EC with adjusted ORs (95% CI) of 0.61(0.47-0.79) and 0.06 (0.01-0.43), respectively. In conclusion, the present study suggested that the MTHFR C677T polymorphism can markedly influence the risk of EC in Chinese.

• Asian Pacific Journal of Cancer Prevention
• /
• 제15권3호
• /
• pp.1345-1349
• /
• 2014

Although many epidemiologic studies investigated the methylenetetrahydrofolate reductase (MTHFR) polymorphisms and their associations with esophageal cancer, definite conclusions could not be drawn. To clarify the effects of MTHFR polymorphisms on the risk of esophageal cancer, a meta-analysis was here performed in Chinese populations. A total of 16 studies including 3,040 cases and 4,127 controls were involved in this metaanalysis. Overall, significant associations were found between the MTHFR C677T polymorphism and esophageal cancer risk when all studies in Chinese populations were pooled into the meta-analysis (T vs. C, OR = 1.19, 95% CI = 1.06-1.34; TT vs. CC, OR = 1.35, 95% CI = 1.07-1.70; TT+ CT vs. CC, OR = 1.29, 95% CI = 1.08-1.54; TT vs. CC + CT, OR = 1.19, 95% CI = 1.03-1.37). In subgroup analyses stratified by ethnicity and source of controls, the same results were found in Kazakh (TT vs. CC, OR = 1.38, 95% CI = 1.02-1.87; TT + CT vs. CC, OR = 1.50, 95% CI = 1.03-2.18), in not stated populations (T vs. C, OR = 1.24, 95% CI = 1.08-1.42; TT vs. CC, OR = 1.47, 95% CI = 1.10-1.96; TT + CT vs. CC, OR = 1.30, 95% CI = 1.05-1.60; TT vs. CC + CT, OR = 1.32, 95% CI = 1.12-1.56), and in hospital-based studies (T vs. C, OR = 1.34, 95% CI = 1.19-1.51; TT vs. CC, OR = 1.81, 95% CI = 1.37-2.39; TT + CT vs. CC, OR = 1.51, 95% CI = 1.26-1.83; and TT vs. CC + CT, OR = 1.39, 95% CI = 1.13-1.70). In conclusion, this meta-analysis provides evidence that the MTHFR C677T polymorphism contributes to esophageal cancer development in Chinese populations.

• Asian Pacific Journal of Cancer Prevention
• /
• 제14권1호
• /
• pp.21-25
• /
• 2013

Background: Genetic factors and environmental factors play a role in pathogenesis of esophageal squamous cell carcinoma (ESCC). Previous studies regarding the association of folate intake and Methylenetetrahydrofolate reductase C677T polymorphism with ESCC was conflicting. We conducted a meta-analysis to investigate the association of MTHFR C677T and folate intake with esophageal cancer risk. Methods: MEDLINE, EMBASE and the Chinese Biomedical Database were searched in our study. The quality of studies were evaluated by predefined scale, and The association of polymorphisms of MTHFR C677T and folate intake and ESCC risk was estimated by Odds ratio (ORs) with 95% confidence intervals (CIs). Results: 19 studies (4239 cases and 5575 controls) were included for meta-analysis. A significant association was seen between individuals with MTHFR 677 CT [OR(95%)=1.47(1.32-1.63)] and TT [OR(95%)=1.69(1.49-1.91)] genotypes and ESCC risk (p<0.05). Low intake of folate had significantly higher risk of esophageal cancer among individuals with CT/TT genotype [OR(95%)=1.65(1.1-2.49)], while high intake of folate did not find significant high risk of esophageal cancer among individuals with CT/TT genotype [OR(95%)=1.64 (0.82-3.26)]. Conclusions: Our meta-analysis indicated the folate intake and MTHFR 677CT/TT are associated with the risk of ESCC, and folate showed a significant interaction with polymorphism of MTHFR C677T.

• Molecular & Cellular Toxicology
• /
• 제1권2호
• /
• pp.130-136
• /
• 2005

The purpose of this study was to evaluate whether the interactions between maternal folate deficiency and methylenetetrahydrofolate reductase (MTHFR) polymorphism increase the risk of elevated maternal serum homocysteine, short gestation and reduced infant birthweight. Healthy pregnant (n = 170; 24-28 gestational weeks; 20-40 years old) women were analyzed for the MTHFR genotype and serum levels of folate and homocysteine, and were then followed for gestational age and infant birthweight. The mean infant birthweight was highest in mothers carrying MTHFR CC and with a normal folate range, and they were followed by mothers carrying MTHFR CT or TT and a normal range of folate or a folate deficiency. Birthweight was the lowest in mothers whose carrying MTHFR CC with folate deficiency. Using two way ANOVA, we found that folate level and the MTHFR polymorphism interacted to affect birth-weight of infants (p=0.05). Among those mothers carrying MTHFR CC, those with folate deficiency showed a 543 g reduction in infant birthweight compared with those with normal folate levels. However, infant birthweight was no different for mothers, those who with folate deficiency compared to those with normal range of folate among mothers carrying the MTHFR CT or TT genotypes. This study suggests an interaction between maternal serum folate and the MTHFR polymorphisms of the mother on the risk of delivering reduced birthweight offspring. Folate supplementation of folate deficient pregnant women with the MTHFR wild type is suggested to reduce the risk of low birthweight.

• Clinical and Experimental Reproductive Medicine
• /
• 제33권1호
• /
• pp.61-61
• /
• 2006

목 적: 본 연구는 methylenetetrahydrofolate reductase (MTHFR C677T와 A1298C) 유전자 돌연변이형이 자연유산아 발생의 원인 유전자로 작용하는지에 대해 알아보고자 시도하였다. 연구방법: 95명의 자연유산아 조직과 대조군으로 100명의 정상 소아의 혈액 그리고 449명의 정상 성인의 혈액을 채취하여 DNA를 분리하여 사용하였다. 유전자형은 분리된 DNA를 이용하여 중합효소 연쇄반응과 제한효소 절편다형 분석방법으로 결정하였다. 결 과: 자연유산아 그룹은 소아대조군에서 보다 MTHFR 677CC 형 (p=0.014)은 높게, 677CT형 (p=0.063)은 낮게 나타났다. 성인대조군과의 비교에서도 MTHFR 677CT 형의 빈도는 현저히 낮게 나타났다 (p=0.032). 그리고 MTHFR 677CC/1298AC 조합형 유전자의 경우 소아대조군 (p=0.034)과의 비교에서는 현저히 높은 빈도를 나타냈으나, 성인대조군 (p=0.063)과의 비교에서는 높은 경향성은 있었으나 통계학적으로 유의한 차이는 없었다. 결 론: MTHFR 677CC와 MTHFR 677CC/1298AC 유전자형은 자연유산아 발생의 위험인자일 가능성이 높으며, 지속적인 연구가 요구된다.