OBJECTIVE: This study was undertaken to investigate associations between inherited thrombophilic polymorphisms and cerebral palsy (CP) in a large case-control study. STUDY DESIGN: This is a population-based case-control study. Genomic DNA from newborn screening cards of 443 white CP cases and 883 white controls was tested for factor V Leiden (FVL, G1691A), prothrombin gene mutation (PGM, G20210A), and methylenetetrahydrofolate reductase (MTHFR) C677T and MTHFR A1298C. RESULTS: MTHFR C677T was associated with an increased risk of developing any CP (32-36 weeks' gestation, homozygous odds ratio [OR] 2.55, 95% CI 1.12-5.74; heterozygous OR 1.91, 95% CI 1.01-3.66). MTHFR C677T was also associated with diplegia at both less than 32 weeks' gestation (homozygous OR 2.76, 95% CI 1.21-6.12) and all gestations (heterozygous OR 1.58 95%, CI 1.02-2.45). For children less than 32 weeks, FVL homozygosity may be associated with an increase in the risk of developing quadriplegia (OR 9.12, 95% CI 0.86-53.71). MTHFR A1298C (heterozygous) was associated with a reduced risk of diplegia developing at 32 to 36 weeks' gestation (OR 0.16, 95% CI 0.02-0.70). There were no associations between any type of CP and thrombophilia for children born 37 weeks or greater. Heterozygous PGM and homozygous MTHFR C677T combined were associated with quadriplegia at all gestational ages (OR 5.33, 95% CI 1.06-23.25). CONCLUSION: MTHFR C677T approximately doubles the risk of CP in preterm infants. A combination of homozygous MTHFR C677T and heterozygous PGM increases the risk of quadriplegia 5-fold at all gestational ages.
OBJECTIVE: This study was undertaken to investigate associations between inherited thrombophilic polymorphisms and cerebral palsy (CP) in a large case-control study. STUDY DESIGN: This is a population-based case-control study. Genomic DNA from newborn screening cards of 443 white CP cases and 883 white controls was tested for factor V Leiden (FVL, G1691A), prothrombin gene mutation (PGM, G20210A), and methylenetetrahydrofolate reductase (MTHFR) C677T and MTHFRA1298C. RESULTS:MTHFRC677T was associated with an increased risk of developing any CP (32-36 weeks' gestation, homozygous odds ratio [OR] 2.55, 95% CI 1.12-5.74; heterozygous OR 1.91, 95% CI 1.01-3.66). MTHFRC677T was also associated with diplegia at both less than 32 weeks' gestation (homozygous OR 2.76, 95% CI 1.21-6.12) and all gestations (heterozygous OR 1.58 95%, CI 1.02-2.45). For children less than 32 weeks, FVL homozygosity may be associated with an increase in the risk of developing quadriplegia (OR 9.12, 95% CI 0.86-53.71). MTHFRA1298C (heterozygous) was associated with a reduced risk of diplegia developing at 32 to 36 weeks' gestation (OR 0.16, 95% CI 0.02-0.70). There were no associations between any type of CP and thrombophilia for children born 37 weeks or greater. Heterozygous PGM and homozygous MTHFRC677T combined were associated with quadriplegia at all gestational ages (OR 5.33, 95% CI 1.06-23.25). CONCLUSION:MTHFRC677T approximately doubles the risk of CP in preterm infants. A combination of homozygous MTHFRC677T and heterozygous PGM increases the risk of quadriplegia 5-fold at all gestational ages.
Authors: Erin A S Clark; Lisa Mele; Ronald J Wapner; Catherine Y Spong; Yoram Sorokin; Alan Peaceman; Jay D Iams; Kenneth J Leveno; Margaret Harper; Steve N Caritis; Menachem Miodovnik; Brian M Mercer; John M Thorp; Susan M Ramin; Marshall Carpenter; Dwight J Rouse Journal: Am J Obstet Gynecol Date: 2010-04-24 Impact factor: 8.661
Authors: Gai L McMichael; Catherine S Gibson; Paul N Goldwater; Eric A Haan; Kevin Priest; Gustaaf A Dekker; Alastair H MacLennan Journal: Hum Genet Date: 2008-09-23 Impact factor: 4.132
Authors: Orhan Güvener; Melek Sezgin; Özlem Tezol; İbrahim Ömer Barlas; Asena Ayça Özdemir; Emine Arzu Kanık Journal: Turk J Phys Med Rehabil Date: 2021-05-25