Lack of association between FXIII-Val34Leu, FVII-323 del/ins, and transforming growth factor beta1 (915G/T) gene polymorphisms and bronchopulmonary dysplasia: a single-center study.
Bronchopulmonary dysplasia (BPD) is a multifactorial disease of preterm infants that is characterized by airway injury, inflammation, and parenchymal remodeling. Extravascular fibrin deposits in septae and alveoli due to the altered fibrin turnover are the pathological hallmarks of BPD that strongly indicates the importance of the imbalance in the competing activities of coagulation and fibrinolysis. Activation of the coagulation cascade leads to intraalveolar fibrin deposition in many inflammatory pulmonary disorders. Increased fibrin formation or decreased fibrinolysis may cause extravascular fibrin deposition. We evaluated the association between FXIII-Val34Leu, FVII-323 del/ins, and transforming growth factor beta1 (TGF-beta(1)) (915G/T) gene polymorphisms in patients with BPD. The study group consisted of 98 preterm infants with BPD. Ninety-four of the 192 preterm neonates were without BPD and sampled for the control group. Restriction fragment size analyses were performed by examining digested PCR products for FXIII-Val34Leu, FVII-323 del/ins, and TGF-beta(1) (915G/C) genotypes. No significant associations were found between FXIII-Val34Leu, FVII-323 del/ins, TGF-beta(1) (915G/C) gene polymorphisms and BPD phenotype in our population. Further studies with other genes are required for the identification of molecular predisposing factors for BPD that may help in the development of new treatments and hence might allow for targeting of this treatment to a "high-risk" subgroup, reducing unnecessary exposure to potentially harmful therapies.
Ataç
Fatma Belgin
FB
Department of Medical Biology and Genetics, Baskent University School of Medicine, Ankara, Turkey. batac@baskent.edu.tr
Ince
Deniz Anuk
DA
Verdi
Hasibe
H
Gökmen
Zeynel
Z
Yazici
Ayse Canan
AC
Gülcan
Hande
H
Tarcan
Aylin
A
Taneri
Ayse
A
Sezgin
Ezgi
E
Ozbek
Namik
N
D019943:Amino Acid Substitution / Q000235:genetics; D001997:Bronchopulmonary Dysplasia / Q000235:genetics*; D005167:Factor VII / Q000235:genetics*; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D054643:INDEL Mutation; D007231:Infant, Newborn; D007930:Leucine / Q000235:genetics; D008297:Male; D011110:Polymorphism, Genetic; D053773:Transforming Growth Factor beta1 / Q000235:genetics*; D014421:Turkey; D014633:Valine / Q000235:genetics
D053773:Transforming Growth Factor beta1; D005167:Factor VII; D005169:Factor VIII; D007930:Leucine; D014633:Valine