The -A162G polymorphism of the PON1 gene and the risk of sporadic amyotrophic lateral sclerosis.
OBJECTIVE
Sporadic amyotrophic lateral sclerosis (sALS) is a devastating neurodegenerative disease, which results from complex genetic and environmental interactions. Recent studies have reported an association between several polymorphisms of the PON1 and PON2 genes and risk of sALS. The aim of the present study was to identify an association between the -A162G polymorphism of the promoter region of the human PON1 gene and the risk of sALS in a Polish population.


METHODS
We included 259 patients with a diagnosis of definite or probable sALS (76 bulbar onset, 183 limb onset) and 694 healthy controls matched for age and sex. The diagnosis of ALS was established according to El Escorial criteria. The polymorphism was studied by Single Nucleotide Polymorphism Real-Time Polymerase Chain Reaction analysis.


RESULTS
No overall difference in the PON1 -A162G geno-type and allele distribution was seen between cases and controls (all p > 0.05). There was, however, a difference in the A allele frequency when the bulbar onset group was compared to the controls (p = 0.03), but this significance disappeared after the Bonferroni correction.


CONCLUSIONS
The results did not show that the -A162G polymorphism of the PON1 gene is a risk factor of sALS in a Polish population; it may affect, however, bulbar onset of the disease.
Zawiślak
Dorota
D
Department of Neurology, Jagiellonian University College of Medicine, Krakow. zawislak13@wp.pl
Ostrowska
Monika
M
Golenia
Aleksandra
A
Marona
Monika
M
Tomik
Barbara
B
Wołkow
Paweł
P
Gryz-Kurek
Elzbieta
E
Szczudlik
Andrzej
A
Słowik
Agnieszka
A
D000328:Adult; D000483:Alleles; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D043303:Aryldialkylphosphatase / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D011044:Poland; D011110:Polymorphism, Genetic / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors
D043303:Aryldialkylphosphatase; C468411:PON2 protein, human