Association between FVL G1691A, MTHFR C677T and A1298C Polymorphisms with Risk for Retinopathy of Prematurity

Document Type : Original Article

Authors

1 Department of Pediatrics, Shahid Beheshti University of Medical Sciences, Tehran, Iran

2 Department of Advanced Medical Sciences and Technologies, Islamic Azad University, Science and Research Branch, Tehran, Iran

3 Department of Pediatrics, Iranshahr University of Medical Sciences, Iranshahr, Iran

4 Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran

5 Department of Medical Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran

6 Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

7 Department of Medical Genetics, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

Abstract

Background: Retinopathy of prematurity (ROP) is an important cause of preventable blindness in children. The aim of this study was to examine the association of the polymorphisms at Factor V Leiden (FVL) and methylene tetrahydrofolate reductase (MTHFR) gene with risk of ROP.
Methods: A total of 106 neonates with ROP and 110 healthy neonates were enrolled. The FVL G1691A and MTHFR C677T and A1298C polymorphisms were genotyped by PCR-RFLP assay.
Results: There was a significant association between FVL G1691A polymorphism and an increased risk of ROP. However, the MTHFR C677T and A1298C polymorphisms were not associated with risk of ROP.
Conclusion: FVL G1691A polymorphism may be risk factor for development of ROP in neonates. However, there was no significant association between MTHFR C677T and A1298C polymorphisms and risk of ROP. However, it is critical that larger and well-designed studies in different ethnicities are needed to confirm our conclusions.

Keywords

References

  1. Gohari M, Dastgheib SA, Noorishadkam M, Lookzadeh MH, Mirjalili SR, Akbarian-Bafghi MJ, et al. Association of eNOS and ACE polymorphisms with retinopathy of prematurity: A systematic review and meta-analysis. Fetal Pediatr Pathol 2020; 39(4): 334-45.
  2. Jefferies AL, Canadian Paediatric Society, Fetus and Newborn Committee. Retinopathy of prematurity: An update on screening and management. Paediatr Child Health 2016; 21(2): 101-8.
  3. Dastgheib SA, Najafi F, Shajari A, Bahrami R, Asadian F, Sadeghizadeh-Yazdi J, et al. Association of plasminogen activator inhibitor-1 4G5G Polymorphism with risk of diabetic nephropathy and retinopathy: a systematic review and meta-analysis. J Diabetes Metab Disord 2020; 19(2): 2005-16.
  4. Shah PK, Prabhu V, Karandikar SS, Ranjan R, Narendran V, Kalpana N. Retinopathy of prematurity: Past, present and future. World J Clin Pediatr 2016; 5(1): 35-46.
  5. Hakeem A, Mohamed GB, Othman MF. Retinopathy of prematurity: A study of prevalence and risk factors. Middle East Afr J Ophthalmol 2012; 19(3): 289-94.
  6. Vashist P, Singh S, Gupta N, Saxena R. Role of early screening for diabetic retinopathy in patients with diabetes mellitus: An overview. Indian J Community Med 2011; 36(4): 247-52.
  7. Al Amro SA, Al Aql F, Al Hajar S, Al Dhibi H, Al Nemri A, Mousa A, et al. Practical guidelines for screening and treatment of retinopathy of prematurity in Saudi Arabia. Saudi J Ophthalmol 2018; 32(3): 222-6.
  8. Kim SJ, Port AD, Swan R, Campbell JP, Chan RVP, Chiang MF. Retinopathy of prematurity: a review of risk factors and their clinical significance. Surv Ophthalmol 2018; 63(5): 618-37.
  9. Jayadev C, Vinekar A, Bharamshetter R, Mangalesh S, Rao H, Dogra M, et al. Retinal immaturity at first screening and retinopathy of prematurity: Image-based validation of 1202 eyes of premature infants to predict disease progression. Indian J Ophthalmol 2019; 67(6): 846-53.
  10. Blencowe H, Lawn JE, Vazquez T, Fielder A, Gilbert C. Preterm-associated visual impairment and estimates of retinopathy of prematurity at regional and global levels for 2010. Pediatr Res 2013; 74 Suppl 1(Suppl 1): 35-49.
  11. Akkawi MT, Shehadeh MM, Shams ANA, Al-Hardan DM, Omar LJ, Almahmoud OH, et al. Incidence and risk factors of retinopathy of prematurity in three neonatal intensive care units in Palestine. BMC Ophthalmol 2019; 19(1): 189.
  12. Port AD, Chan RVP, Ostmo S, Choi D, Chiang MF. Risk factors for retinopathy of prematurity: insights from outlier infants. Graefes Arch Clin Exp Ophthalmol 2014; 252(10): 1669-77.
  13. Khorshidifar M, Nikkhah H, Ramezani A, Entezari M, Daftarian N, Norouzi H, et al. Incidence and risk factors of retinopathy of prematurity and utility of the national screening criteria in a tertiary center in Iran. Int J Ophthalmol 2019; 12(8): 1330-6.
  14. Fierson WM, AMERICAN ACADEMY OF PEDIATRICS Section on Ophthalmology, American Academy of Ophthalmology, American Association for Pediatric Ophthalmology and Strabismus, American Association of Certified Orthoptists. Screening examination of premature infants for retinopathy of prematurity. Pediatrics 2018; 142(6): e20183061.
  15. Freitas AM, Mörschbächer R, Thorell MR, Rhoden EL. Incidence and risk factors for retinopathy of prematurity: A retrospective cohort study. Int J Retina Vitreous 2018; 4(1): 20.
  16. Behrman RE, Butler AS. Mortality and acute complications in preterm infants. In: Institute of Medicine, Board on Health Sciences Policy, Committee on Understanding Premature Birth and Assuring Healthy Outcomes, editor. Preterm birth: Causes, consequences, and prevention. Washington, DC: National Academies Press; 2007.
  17. Liu PM, Fang PC, Huang C Bin, Kou HK, Chung MY, Yang YH, et al. Risk factors of retinopathy of prematurity in premature infants weighing less than 1600 g. Am J Perinatol. 2005; 22(2): 115-20.
  18. Coats DK. Retinopathy of prematurity: Involution, factors predisposing to retinal detachment, and expected utility of preemptive surgical reintervention. Trans Am Ophthalmol Soc 2005; 103: 281-312.
  19. Gohari M, Bahrami R, Dastgheib SA, Lookzadeh MH, Noorishadkam M, Mirjalili SR, et al. An updated and comprehensive meta-analysis of association between VEGA -634G > C, -460T > C, +405G > C and +936C > T polymorphisms and retinopathy of prematurity risk. Fetal Pediatr Pathol 2021; 40(3): 233-49.
  20. Kenet G, Maayan-Metzger A, Rosenberg N, Sela B-A, Mazkereth R, Ifrah A, et al. Thrombophilia does not increase risk for neonatal complications in preterm infants. Thromb Haemost 2003; 90(5): 823-8.
  21. Aydin H, Gunay M, Celik G, Gunay BO, Aydin UT, Karaman A. Evaluation of Factor V Leiden, Prothrombin G20210A, MTHFR C677T and MTHFR A1298C gene polymorphisms in retinopathy of prematurity in a Turkish cohort. Ophthalmic Genet 2016; 37(4): 415-8.
  22. Sadeghiyeh T, Dastgheib SA, Lookzadeh MH, Noori-Shadkam M, Akbarian-Bafghi MJ, Zare-Shehneh M, et al. Association of MTHFR 677C > T and 1298A > C polymorphisms with susceptibility to attention deficit and hyperactivity disorder. Fetal Pediatr Pathol 2020; 39(5): 422-9.
  23. Jusić A, Balić D, Avdić A, Pođanin M, Balić A. The association of factor V G1961A (Factor V Leiden), prothrombin G20210A, MTHFR C677T and pai-1 4G/5G polymorphisms with recurrent pregnancy loss in Bosnian women. Med Glas (Zenica) 2018; 15(2): 158-63.
  24. Shastry BS. Genetic susceptibility to advanced retinopathy of prematurity (ROP). J Biomed Sci 2010; 17(1): 69.
  25. Shukla S, Malik MA, Chandra P, Kaur J. Association between VEGF polymorphisms (-460 T/C and +936 C/T) and retinopathy of prematurity risk: A meta-analysis. Saudi J Ophthalmol 2016; 30(3): 157-62.
  26. Kalmeh ZA, Azarpira N, Mosallaei M, Hosseini H, Malekpour Z. Genetic polymorphisms of vascular endothelial growth factor and risk for retinopathy of prematurity in South of Iran. Mol Biol Rep 2013; 40(7): 4613-8.
  27. Bányász I, Bokodi G, Vannay A, Szebeni B, Treszl A, Vásárhelyi B, et al. Genetic polymorphisms of vascular endothelial growth factor and angiopoietin 2 in retinopathy of prematurity. Curr Eye Res 2006; 31(7-8):
    685-90.
  28. Azami M, Jaafari Z, Rahmati S, Farahani AD, Badfar G. Prevalence and risk factors of retinopathy of prematurity in Iran: A systematic review and meta-analysis. BMC Ophthalmol 2018; 18(1): 83.
  29. Maroufizadeh S, Almasi-Hashiani A, Omani Samani R, Sepidarkish M. Prevalence of retinopathy of prematurity in Iran: Asystematic review and meta-analysis. Int J Ophthalmol 2017; 10(8): 1273-9.
  30. Amooee A, Dastgheib SA, Niktabar SM, Noorishadkam M, Lookzadeh MH, Mirjalili SR, et al. Association of fetal MTHFR 677C > T polymorphism with non-syndromic cleft lip with or without palate risk: A systematic review and meta-analysis. Fetal Pediatr Pathol 2021; 40(4): 337-53.
  31. Niktabar SM, Aarafi H, Dastgheib SA, Noorishadkam M, Mirjalili SR, Lookzadeh MH, et al. Association of MTHFR 1298A > C polymorphism with susceptibility to non-syndromic cleft lip with or without palate: A case-control study and meta-analysis. Fetal Pediatr Pathol 2021; 40(1): 1-17.
  32. Sadeghiyeh T, Dastgheib SA, Mirzaee-Khoramabadi K, Morovati-Sharifabad M, Akbarian-Bafghi MJ, Poursharif Z, et al. Association of MTHFR 677C>T and 1298A>C polymorphisms with susceptibility to autism: A systematic review and meta-analysis. Asian J Psychiatr 2019; 46: 54-61.
  33. Tiwari D, Bose PD, Das S, Das CR, Datta R, Bose S. MTHFR (C677T) polymorphism and PR (PROGINS) mutation as genetic factors for preterm delivery, fetal death and low birth weight: A Northeast Indian population based study. Meta Gene 2015; 3: 31-42.
  34. Kedar R, Chandel D. MTHFR gene polymorphism and associated nutritional deficiency in the etiology and pathogenesis of Down syndrome. Egypt J Med Hum Genet 2019; 20(1): 12.
  35. Kamali M, Hantoushzadeh S, Borna S, Neamatzadeh H, Mazaheri M, Noori-Shadkam M, et al. Association between thrombophilic genes polymorphisms and recurrent pregnancy loss susceptibility in the iranian population: A systematic review and meta-analysis. Iran Biomed J 2018; 22(2): 78-89.
  36. Hemsworth EM, O’Reilly AM, Allen VM, Kuhle S, Brock JAK, Shah P, et al. Association between factor V leiden mutation, small for gestational age, and preterm birth: A systematic review and meta-analysis. J Obstet Gynaecol Can 2016; 38(10): 897-908.
  37. Kleinberg S, Garrant S, Tillen T, Trese MT, Shastry BS. Factor V Leiden mutation (R506Q) and the risk of advanced retinopathy of prematurity. Int J Mol Med 2003; 12(4): 469-72.

 

 

 

World Journal of Peri and Neonatology
Volume 4, Issue 1
June 2021
Pages 7-13

Files

History

  • Receive Date: 30 August 2021
  • Accept Date: 30 August 2021

Share

How to cite

Statistics