한국여성에서 자간전증과 peroxisome proliferator-activated receptor-γ, methylenetetrahydrofolate reductase 유전자 다형성의 연관성
Association of genetic polymorphisms in the peroxisome proliferator-activated receptor-γ and methylenetetrahydrofolate reductase with preeclampsia in Korean women
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=목적: 자간전증의 발병기전에 관여할 것으로 예측되는 PPARγ와 MTHFR 유전자의 단일염기다형성 및 일배체형과 한국인에서 자간전증의 연관성을 분석하고자 하였다. 연구 방법: 자간전증 환자 226명과 대조군 235명을 대상으로 하여 말초혈액검체에서 DNA를 추출하였고, PPARγ (-796A>G, P12A (C>G), H447H (161C>T)), MTHFR (A222V (677C>T), E429A (1298A>C), R594Q (1793G>A)) 유전자의 단일염기다형성의 유전자형은 SNaPShot assay kit를 이용한 single base primer extension assay로 분석하였다. 결과는 Student's t-test, 카이제곱검정, 선형회귀분석으로 분석하였고, 일배체형 분석은 Haploview 3.2 version을 이용하여 수행하였다.결과: 대상 환자들에서 PPARγ, MTHFR 유전자의 대립유전자 빈도 및 유전자형 빈도는 환자군과 대조군 간에 유의한 차이가 없었고 (p>0.05), PPARγ와 MTHFR의 단일염기다형성들의 유전자형은 자간전증 위험에 있어 유의한 차이가 없었다 (p>0.05). PPARγ과 MTHFR 유전자의 단일염기다형성들 중 MTHFR 유전자의 3가지 단일염기다형성 677C>T, 1298A>C, 1793G>A 사이에 서로 강한 연관불균형을 보였으나 (Lod score>2.0), MTHFR 유전자의 TAG, CAG, CCA, CCG 일배체형의 유전자형의 분포는 환자군과 대조군 간에 유의한 차이가 없었고 (p>0.05) 자간전증 위험에 있어 통계적으로 유의한 차이가 없었다 (p>0.05).
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