Association between NOS3 gene G894T polymorphism and late-onset Alzheimer disease in a sample from Iran

Alzheimer disease (AD) is the most common age-associated neurodegenerative disease caused by complicated interactions between genetic and environmental factors. The presence of the apolipoprotein epsilon4 allele, the only confirmed genetic risk factor for late-onset AD (LOAD), is neither sufficient nor necessary to explain all occurrences of the disease. Aberrant expression of the endothelial nitric oxide synthase (NOS3) gene has been demonstrated in degenerating neurons and glial cells in brains with AD. Molecular epidemiologic studies have presented contradictory results concerning a potential role of NOS3 gene G894T polymorphism in AD. To define a possible association of this polymorphism with LOAD in an Iranian population, we conducted a case-control study including a clinically well-defined group of 100 LOAD patients and 100 age-matched controls. G894T polymorphism in NOS3 gene was determined by polymerase chain reaction-restriction fragment length polymorphisms assay. Chi-square analysis showed a significantly increased number of individuals with the G/G genotype in AD patients compared with controls (P<0.05). These results demonstrate an association between G894T polymorphism and LOAD in an Iranian sample and the G/G genotype seems to have some effects in the development of AD either alone or through interaction with other risk factors.