Роль автоантитела в преэклампсии. Проспективное исследование ассоциации между anticardiolipin антителом и результатом беременности, страница 36

TI: Factor V Leiden, C > T MTHFR polymorphism and genetic susceptibility to preeclampsia.

: Фактор V Лейден, C> T MTHFR полиморфизм и генетическая восприимчивость к преэклампсии.

AU: Grandone-E; Margaglione-M; Colaizzo-D; Cappucci-G; Paladini-D; Martinelli-P; Montanaro-S; Pavone-G; Di-Minno-G

AD: Arteriosclerosis and Thrombosis Unit, I.R.C.C.S. Casa Sollievo della Sofferenza, S.Giovanni R. (FG), Italy.

SO: Thromb-Haemost. 1997 Jun; 77(6): 1052-4

CP: GERMANY

AB: We performed a case-controlled study to investigate whether the FV Leiden mutation and the C > T677 polymorphism of the 5, 10 methylene tetrahydrofolate reductase (MTHFR) are associated with the occurrence of preeclampsia in 96 otherwise healthy preeclamptic women and 129 parous women as controls. FV Leiden carriers were 10 (10.5%) in cases and 3 (2.3%) in controls (OR: 4.9, 95% CI: 1.3-18.3). MTHFR TT homozygotes were 28 (29.8%) in cases and 24 (18.6%) in the control group (OR: 1.8, 95% CI 1.0-3.5). No difference in any of the polymorphisms was found between proteinuric (n = 45) and non-proteinuric (n = 51) patients. Moreover, MTHFR polymorphism does not affect the association between FV Leiden and preeclampsia. In conclusion, FV Leiden mutation and MTHFR TT genotype are associated with the occurrence of preeclampsia, suggesting that, during pregnancy, women carrying these gene variants are prone to develop such a complication.

: Мы делали управляемое случаем изучение, чтобы исследовать, связаны ли FV Лейденская мутация и C> T677 полиморфизм из 5, 10 methylene tetrahydrofolate reductase (MTHFR) с возникновением преэклампсии в 96 иначе здоровых preeclamptic женщинах и 129 рожавших женщинах как контрольные группы. FV Лейденские курьеры(транспорты) были 10 (10.5 %) в случаях и 3 (2.3 %) в контрольных группах (ИЛИ: 4.9, 95 % CI: 1.3-18.3). MTHFR TT гомозиготы были 28 (29.8 %) в случаях и 24 (18.6 %) в контрольной группе (ИЛИ: 1.8, 95 % CI 1.0-3.5). Никакое различие в любом из полиморфизмов не было найдено между proteinuric (n = 45) и non-proteinuric (n = 51) пациенты. Кроме того, MTHFR полиморфизм не затрагивает ассоциацию между FV Лейденом и преэклампсией. В заключение FV Лейденская мутация и MTHFR TT генотип связаны с возникновением преэклампсии, предлагая, что, в течение беременности, женщины, несущие эти варианты гена являются склонными, чтобы развить такое осложнение.

TI: Methylenetetrahydrofolate reductase polymorphism and pre-eclampsia. : methylenetetrahydrofolate reductase полиморфизм и преэклампсия.

AU: Sohda-S; Arinami-T; Hamada-H; Yamada-N; Hamaguchi-H; Kubo-T

AD: Department of Obstetrics and Gynaecology, University of Tsukuba, Ibaraki, Japan.

SO: J-Med-Genet. 1997 Jun; 34(6): 525-6

CP: ENGLAND

AB: A common missense mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, a C to T substitution at nucleotide 677, is responsible for reduced MTHFR activity and associated with modestly increased plasma homocysteine concentrations. Since underlying maternal vascular disease increases the risk of pre-eclampsia, we had the working hypothesis that pre-eclampsia patients would have an increased T677 allele frequency compared with controls. The MTHFR genotypes were determined in 67 pre-eclampsia patients, 98 normal pregnant women, and 260 healthy adults by the PCR/RFLP method. The T677 allele and the genotype homozygous for the T677 allele were significantly increased in the pre-eclamptic group compared with the controls (p < 0.02 and p < 0.004, respectively). The data indicate that the T677 variant of the MTHFR gene is one of the genetic risk factors for pre-eclampsia.