Factor V Leiden mutation (R506Q) and the risk of advanced retinopathy of prematurity

  • Authors:
    • Sarah Kleinberg
    • Scott Garrant
    • Terri Tillen
    • M. T. Trese
    • B. S. Shastry
  • View Affiliations

  • Published online on: October 1, 2003     https://doi.org/10.3892/ijmm.12.4.469
  • Pages: 469-472
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Abstract

The coagulation factor V Leiden mutation was reported to be a significant (10.7%) risk factor for pre-term deliveries. It is also well known that a portion (10%) of very low birth weight premature babies develop advanced retinopathy of prematurity (ROP) which is a leading cause of blindness in children. However, the relationship between the Leiden mutation and development of advanced ROP is not known. In order to understand this relationship as well as genetic contribution to ROP, in this study, we have analyzed 100 pre-term infants with advanced ROP (stage 4B/5), 20 term babies with a clinically similar disease called familial exudative vitreoretinopathy (FEVR) and 16 normal babies from four different ethnic backgrounds. Our extensive analysis has identified a heterozygous Leiden mutation in four patients (4%) with advanced ROP and in one patient (5%) with sporadic FEVR. DNA sequence analysis has further confirmed this base change as well as heterozygosity. However, the frequency observed in the patients analyzed in our study is lower than reported frequency in the general population (5.4%). Therefore, statistically factor V mutation on its own is not a major risk factor for the above two disorders. However, it may be associated with other additive factors as might be expected for a complex genetic trait.

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October 2003
Volume 12 Issue 4

Print ISSN: 1107-3756
Online ISSN:1791-244X

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Spandidos Publications style
Kleinberg S, Garrant S, Tillen T, Trese MT and Shastry BS: Factor V Leiden mutation (R506Q) and the risk of advanced retinopathy of prematurity. Int J Mol Med 12: 469-472, 2003
APA
Kleinberg, S., Garrant, S., Tillen, T., Trese, M.T., & Shastry, B.S. (2003). Factor V Leiden mutation (R506Q) and the risk of advanced retinopathy of prematurity. International Journal of Molecular Medicine, 12, 469-472. https://doi.org/10.3892/ijmm.12.4.469
MLA
Kleinberg, S., Garrant, S., Tillen, T., Trese, M. T., Shastry, B. S."Factor V Leiden mutation (R506Q) and the risk of advanced retinopathy of prematurity". International Journal of Molecular Medicine 12.4 (2003): 469-472.
Chicago
Kleinberg, S., Garrant, S., Tillen, T., Trese, M. T., Shastry, B. S."Factor V Leiden mutation (R506Q) and the risk of advanced retinopathy of prematurity". International Journal of Molecular Medicine 12, no. 4 (2003): 469-472. https://doi.org/10.3892/ijmm.12.4.469