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

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

• Clinical and Experimental Reproductive Medicine
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• 제26권3호
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• pp.441-445
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• 1999

Objective: To analyze the methylenetetrahydrofolate reductase (MTHFR) mutation in recurrent spontaneous abortion associated with hyperhomocysteinemia. Material and Method: The blood sample of habitual aborter with high fasting homocysteine level was tested by PCR - RFLP method. Results: The patient was found to be a homozygosity for MTHFR gene mutation that was confirmed by the finding which is consistent with the mutation at the nucleotide 677 C to T, corresponding to Ala to Val. Conclusions: Hyperhomocysteinemia due to MTHFR mutation is a cause of recurrent spontaneous abortion. Therefore, the MTHFR mutation should be examined in the workup of recurrent spontaneous abortion showing hyperhomocysteinemia.

• Journal of Nutrition and Health
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• 제24권4호
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• pp.350-355
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• 1991

갑상선 호르몬이 10-formyltetrahydrofolate dehydrogenase에 미치는 영향을 흰 쥐의 간을 이용하여 조사 하였다. 흰 쥐에게 갑상선 호르몬의 형성을 저지하는 thiouracil을 먹였을 때 히스티딘의 산화속도가 5배 증가 되었으며, 10-formyltetrahydrofolate dehydrogenase의 활성도가 142%로 증가 되었고, 또한 methylenetetrahydrofolate reductase의 활성도는 정상 쥐의 32% 수준으로 저하되었다. thyroid powder를 먹여 갑상선 기능이 항진된 상태에서는 이와 반대 경향을 보였다. 갑상선의 기능이 저하되었을 때 히스티딘의 산화속도가 상승되는 것은 methylenetretrahydrofolate reductase의 활성도의 감소로 인해, folate를 필요로 하는 반응에서 주로 이용되는 non-methyl folate의 비율이 증가되었기 때문이며, 10-formyltetrahydrofolate dehydrogenase의 활성도의 상승으로 인해 히스티딘의 산화속도는 더욱 증가한 것으로 보인다.

• 대한한방내과학회지
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• 제23권1호
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• pp.1-4
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• 2002

Objective : Hyperhomocysteinemia has been proven to be an independent risk factor for stroke. The genetic mutation of methylenetetrahydrofolate reductase(MTHFR) elevates serum homocysteine level, but it still remains controversial whether the MTHFR gene mutation could be a predictor of ischemic stroke. Therefore, we studied if this genetic defect could cause ischemic stroke independently. Methods : We gathered ischemic stroke subjects and age, sex-matched controls. Age, gender, past medical history, smoking habit, serum homocysteine level, and the MTHFR genotype were recorded. General characteristics of ischemic stroke subjects were compared to the controls. We classified the stroke according to the related vessels(small and large artery infarction) and single lesion and multiple infraction. Relevant risk of the MTHFR genotype was evaluated in each stroke subtype with multiple logistic regression analysis. Results : When the controls were compared to the whole ischemic stroke, there was no specific difference except some medical histories. However, further analysis based on stroke subtypes showed important results. The small artery infarction group, multiple infraction group had significant odds ratio of the MTHFR TT genotype adjusted for age, gender, medical history and smoking habit. Conclusions : The MTHFR TT genotype is an independent risk factor for certain types of ischemic stroke, small artery infarction and multiple infarction.

• Asian Pacific Journal of Cancer Prevention
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• 제14권1호
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• pp.299-302
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• 2013

Methylenetetrahydrofolate reductase (MTHFR) has been reported to be associated with DNA methylation, an epigenetic feature frequently found in gastric cancer. We conducted a case-control study to explore the association of MTHFR C677T polymorphisms with gastric cancer risk and its relation with the DNA methylation of COX-2, MGMT, and hMLH1 genes. Genotyping of P16, MGMT and HMLH1 was determined by methylation-specific PCR after sodium bisulfate modification of DNA, and genotyping of MTHFR C677T was conducted by TaqMan assays using the ABI Prism 7911HT Sequence Detection System. Folate intake was calculated with the aid of a questionnaire. Compared with the MTHFR 677CC genotype, the TT genotype was significantly associated with 2.08 fold risk of gastric cancer when adjusting for potential risk factors. Individuals who had an intake of folate above $310{\mu}g$/day showed protective effects against gastric cancer risk. The effect of MTHFR C677T polymorphisms on the risk of gastric cancer was modified by folate intake and methylation status of MGMT (P for interaction <0.05).

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

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

• 대한예방의학회:학술대회논문집
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• 대한예방의학회 2002년도 제54차 추계 학술대회 연제집
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• pp.354-355
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• 2002

• Nutritional Sciences
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• 제5권4호
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• pp.256-258
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• 2002