Association of MP6d9 Polymorphism with Clinical Variability in Cystic Fibrosis Patients.
BACKGROUND
In this work, we are interested to study for the first time the extragenic polymorphic marker MP6d9 in cystic fibrosis and healthy cohort in Tunisia to establish the contribution of MP6d9 polymorphism in the phenotypic variability of CF patients.


METHODS
Our study enrolled 112 CF patients and 100 healthy controls. The analysis of the polymorphic marker MP6d9 was performed using the PCR-RFLP technique.


RESULTS
Statistical difference was found in the genotype and allelic distribution between CF patients and control groups. We found that the 2/2 genotype was higher in CF patients than in controls (58.9% vs 23%). We noted that the 2/2 genotype is associated with severe clinical manifestations.


CONCLUSIONS
Based on the above data, it seems that this genotype has led to the deterioration of our patient's clinical manifestation. This study enabled us to understanding the involvement of the MP6d9 marker in the CF clinical expression in the Tunisian population.
Chaima
C
Sahli
Sondess
S
Hadj-Fredj
Rym
R
Dabboubi
Khedija
K
Bousseta
Ahmed
A
Mehrzi
Taieb
T
Messaoud
D000293:Adolescent; D054458:Amplified Fragment Length Polymorphism Analysis; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D010865:Pilot Projects; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D012720:Severity of Illness Index; D014416:Tunisia
C505032:CFTR protein, human; D005819:Genetic Markers; D019005:Cystic Fibrosis Transmembrane Conductance Regulator