染色体完整性正常的自然流产胚胎中叶酸代谢相关基因多态性与p16(INK4A)和hMLH1基因甲基化之间的关联
Association between folate metabolism-related gene polymorphisms and methylation of p16(INK4A) and hMLH1 genes in spontaneously aborted embryos with normal chromosomal integrity.
作者信息
Park Hye Mi, Shin Seung Ju, Choi Dong Hee, Oh Doyeun, Lee Suman, Kim Nam Keun
机构信息
Institute for Clinical Research, College of Medicine, Pochon CHA University, Seongnam, South Korea.
出版信息
Fertil Steril. 2008 Nov;90(5):1605-10. doi: 10.1016/j.fertnstert.2007.09.046. Epub 2008 Jan 4.
OBJECTIVE
To assess prevalent polymorphisms of 5,10-methylenetetrahydrofolate reductase (MTHFR) and thymidylate synthase enhancer region (TSER) and methylation patterns of p16(INK4A) and hMLH1 genes in spontaneously aborted embryos (SAEs) with normal chromosomal integrity.
DESIGN
Retrospectively analyzed, prospectively obtained database.
SETTING
Bundang CHA General Hospital in South Korea.
PATIENT(S): Fifty-nine SAEs (<20 wk of gestational age) with normal chromosomal integrity.
INTERVENTION(S): None.
MAIN OUTCOME MEASURE(S): Genotype frequency of MTHFR, TSER polymorphisms, and methylation status of p16(INK4A) and hMLH1 genes in SAEs with normal chromosomal integrity.
RESULT(S): The distribution of the MTHFR 677C>T polymorphism differed significantly between SAEs with normal chromosomal integrity and the two control groups. Also, the frequency of combined MTHFR 677 and TSER genotypes was significantly different between the aborted embryos and the adult control group. However, the MTHFR 677C>T and 1298A>C and TSER polymorphisms were not associated with the methylation status of p16(INK4A) and hMLH1 genes in SAEs with normal chromosomal integrity.
CONCLUSION(S): Association between the MTHFR 677C>T polymorphism and the risk of SAEs with normal chromosomal integrity in the Korean population.
目的
评估5,10-亚甲基四氢叶酸还原酶（MTHFR）和胸苷酸合成酶增强子区域（TSER）的常见多态性，以及染色体完整性正常的自然流产胚胎（SAE）中p16（INK4A）和hMLH1基因的甲基化模式。
设计
回顾性分析前瞻性获得的数据库。
地点
韩国盆唐CHA综合医院。
患者
59例染色体完整性正常的SAE（妊娠龄<20周）。
干预措施
无。
主要观察指标
染色体完整性正常的SAE中MTHFR、TSER多态性的基因型频率以及p16（INK4A）和hMLH1基因的甲基化状态。
结果
染色体完整性正常的SAE与两个对照组之间，MTHFR 677C>T多态性的分布存在显著差异。此外，流产胚胎与成人对照组之间，MTHFR 677和TSER联合基因型的频率也存在显著差异。然而，染色体完整性正常的SAE中，MTHFR 677C>T和1298A>C以及TSER多态性与p16（INK4A）和hMLH1基因的甲基化状态无关。
结论
韩国人群中，MTHFR 677C>T多态性与染色体完整性正常的SAE风险之间存在关联。
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