Clinical Institute of Gynecology , Obstetrics and Neonatology, Hospital Cl inic-Institut d’Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Faculty of Medicine-University of Barcelona, Barcelona, Spain.
Clin Chem Lab Med. 2013 Mar 1;51(3):693-9. doi: 10.1515/cclm-2012-0452.
Hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR) gene mutation have been postulated as a possible cause of recurrent miscarriage (RM). There is a wide variation in the prevalence of MTHFR polymorphisms and homocysteine (Hcy) plasma levels among populations around the world. The present study was undertaken to investigate the possible association between hyperhomocysteinemia and its causative genetic or acquired factors and RM in Catalonia, a Mediterranean region in Spain.
Sixty consecutive patients with ≥ 3 unexplained RM and 30 healthy control women having at least one child but no previous miscarriage were included. Plasma Hcy levels, MTHFR gene mutation, red blood cell (RBC) folate and vitamin B12 serum levels were measured in all subjects.
No significant differences were observed neither in plasma Hcy levels, RBC folate and vitamin B12 serum levels nor in the prevalence of homozygous and heterozygous MTHFR gene mutation between the two groups studied.
In the present study RM is not associated with hyperhomocysteinemia, and/or the MTHFR gene mutation.
高同型半胱氨酸血症和亚甲基四氢叶酸还原酶（MTHFR）基因突变被认为是复发性流产（RM）的可能原因。在世界各地的人群中，MTHFR 多态性和同型半胱氨酸（Hcy）血浆水平的流行率存在很大差异。本研究旨在调查加泰罗尼亚（西班牙的一个地中海地区）高同型半胱氨酸血症及其致病遗传或获得性因素与 RM 之间的可能关联。
连续纳入 60 例≥3 次不明原因 RM 的患者和 30 例至少有 1 个孩子但无既往流产史的健康对照组妇女。所有受试者均检测血浆 Hcy 水平、MTHFR 基因突变、红细胞（RBC）叶酸和维生素 B12 血清水平。
两组间血浆 Hcy 水平、RBC 叶酸和维生素 B12 血清水平以及 MTHFR 基因突变纯合子和杂合子的发生率均无显著差异。
在本研究中，RM 与高同型半胱氨酸血症和/或 MTHFR 基因突变无关。
