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Methylenetetrahydrofolate reductase polymorphism, diet, and breast cancer in Korean women
이상아,강대희,Hisahide Nishio,이명진,김동현,한원식,유근영,안세현,조국진,Ari Hirvonen,노동영 생화학분자생물학회 2004 Experimental and molecular medicine Vol.36 No.2
To evaluate the interactive effect of methylenetetrahydrofolate reductase (MTHFR) genotype and dietary factors on the development of breast cancer, a hospital based case-control study was conducted in South Korean study population consisting of 189 histologically confirmed incident breast cancer cases and their 189 age-matched controls without present or previous history of cancer. A PCR-RFLP method was used for the genotyping of MTHFR (C677T) and statistical evaluations were performed by unconditional logistic regression analysis. Consumption of some dietary factors, such as green vegetables (OR = 0.3, 95% CI: 0.2-0.6), white vegetables (OR = 0.3, 95% CI: 0.1-0.7) mushrooms (OR = 0.4, 95% CI: 0.3-0.7), and meats (OR = 1.7, 95% CI: 1.1-2.8) significantly decreased or increased the risk of breast cancer. Although the breast cancer risk was 1.7-fold (95% CI: 0.8-3.2) increased in women with MTHFR TT genotype, the association was not statistically significant. Women with MTHFR TT genotype and low green vegetable intake increased 5.6-fold (95% CI: 1.2-26.3) risk of breast cancer compared to high green vegetable intake group containing MTHFR CC/CT genotype. However, the interaction was not significant (p for interaction = 0.96). Our findings suggest that MTHFR polymorphism did not influence individual susceptibility to breast cancer. However MTHFR (C667T) genotype and green vegetable intakes appeared to have the interactive effect in breast cancer development.
소음성 난청에서의 Mitochondrial DNA A3243G, A1555G, A7445G 돌연변이
홍영습,이명진,곽기영,황찬호,신동훈,곽종영,이용환,김종민,김준연,Hong Young-Seoub,Nishio Hisahide,Lee Myeong-Jin,Kwak Ki-Young,Hwang Chan-Ho,Shin Dong-Hoon,Kwak Jong-Young,Lee Yong-Hwan,Kim Jong-Min,Kim Joon-Youn 한국생명과학회 2004 생명과학회지 Vol.14 No.6
본 연구는 소음성 감각신경성난청 환자의 유전적 관련요인을 파악하고자 관련성이 의심되는 mitochondrial DNA의 돌연변이와 소음성 감각신경성난청과의 관련성을 조사하였다. 말초혈액 백혈구로부터 DNA를 추출한 후, mtDNA 3243, 1555, 7445부위의 $A{\rightarrow}G$ 돌연변이 유무를 관찰하기 위하여 mtDNA 3243, 1555, 7445부위 가 포함된 mtDNA fragment를 중합효소 연쇄반응으로 증폭하고 유전자 제한효소로 소화하여 전기영동하고 ethidium bromide 용액으로 염색하여 UV transilluminator에서 관찰하였다. 그리고, PCR 산물을 이용하여 DNA 염기서열을 분석하여 mtDNA 3243, 1555, 7445부 위에서의 염기서열 분석을 실시하여 mtDNA 3243, 1555, 7445부위 의 $A{\rightarrow}G$ 돌연변이를 관찰하였다 MtDNA A3243G, A1555G, A7445G의 돌연변이를 관찰한 결과 돌연변이 부위가 포함된 fragment가 소음성 감각신경성난청 환자군, 감각신경성난청 환자군, 대조군 모두에서 증폭됨을 관찰하였다. 또한 PCR 산물을 제한효소로 처 리 한 결과에서도 mtDNA에서 3243, 1555, 7445부위의 $A{\rightarrow}G$ 돌연변이가 일어나지 않았음을 알 수 있었다. PCR산물을 이용하여 DNA 염기서열을 분석하여 mtDNA 3243, 1555, 7445부위에서의 염기서열을 확인한 결과 이미 밝혀진 사람의 mtDNA 3243, 1555, 7445부 위의 염기서열과 동일한 염기서열임이 확인되었으므로 mtDNA 3243, 1555, 7445부위의 $A{\rightarrow}G$ 돌연변이가 일어나지 않았음을 확인하였다. 소음성 감각신경성난청과 mtDNA 3243, 1555, 7445부위의 $A{\rightarrow}G$ 돌연변이와는 관련이 없는 것으로 관찰되었다. Mitochondrial DNA mutations have been reported in recent years in association with sensorineural hering loss. The purpose of this study is to identify the association between the noise-induced sensorineural hearing loss and the A to G mutation at nucleotide 3243, 1555, 7445 of mitochondrial DNA. Study subjects were established by history and chart review, and audiological and clinical data were obtained. Blood was sampled from 214 normal controls, 102 noise-induced hearing loss, and 28 sensorineural hearing loss. The DNA of these individuals were extracted, and mitochondrial DNA fragments were analyzed by polymerase chain reaction. Subsequently, the coding sequence of mitochondrial DNA 3243, 1555, 7445 were sequenced, and compared to the normal sequence, and all sequence variations were analyzed by restriction enzymes. Mitochondrial DNA mutations $(3243A{\rightarrow}G,\;1555A{\rightarrow}4G,\;7445A{\rightarrow}G)$ were not detected by polymerase chain reactions in any patients with noise-induced hearing loss, sensorineural hearing loss, and normal controls. The DNA sequencing of PCR products did not revealed an A to G substitution at nucleotide 3243, 1555, 7445 of mitochondrial DNA. The noise-induced sensorineural hearing loss was not associated with mitochondrial DNA mutation $(3243A{\rightarrow}G,\;1555A{\rightarrow}4G,\;7445A{\rightarrow}G)$.