Involvement of polymorphisms of the nerve growth factor and its receptor encoding genes in the etiopathogenesis of ischemic stroke

• Published in: BMC medical genetics Vol. 19; no. 1; pp. 33 - 10
• Main Authors: Stepanyan, Ani, Zakharyan, Roksana, Simonyan, Arsen, Tsakanova, Gohar, Arakelyan, Arsen
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 02.03.2018; BioMed Central; BMC
• Subjects: Adult; Alleles; Armenia; Brain Ischemia - diagnosis; Brain Ischemia - genetics; Case-Control Studies; Causes of; Development and progression; European Continental Ancestry Group - genetics; Female; Gene Frequency; Genetic aspects; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotyping Techniques; Humans; Ischemic stroke; Male; Middle Aged; Nerve growth factor; Nerve Growth Factor - genetics; Nerve growth factor receptor; Nerve Tissue Proteins - genetics; NGF; NGFR; Polymorphism, Single Nucleotide; Receptors, Nerve Growth Factor - genetics; Risk Factors; Single nucleotide polymorphism; Single nucleotide polymorphisms; Stroke (Disease); Stroke - diagnosis; Stroke - genetics; Armenia; NGFR; Nerve growth factor; Ischemic stroke; Single nucleotide polymorphism; NGF; Nerve growth factor receptor
• ISSN: 1471-2350; 1471-2350
• DOI: 10.1186/s12881-018-0551-7

Despite the important role of the nerve growth factor in the survival and maintenance of neurons in ischemic stroke, data regarding the relationships between variations in the encoding gene and stroke are lacking. In the present study, we evaluated the association of the functional polymorphisms in NGF (rs6330) and NGFR (rs2072446 and rs734194) genes with ischemic stroke in an Armenian population. In total, 370 unrelated individuals of Armenian nationality were enrolled in this study. Genomic DNA samples of patients and healthy controls were genotyped using polymerase chain reaction with sequence-specific primers. The results obtained indicate that the minor allele of rs6330 (P  = 2.4E-10) and rs2072446 (P  = 0.02) are significantly overrepresented in stroke group, while the minor allele of rs734194 (P  = 8.5E-10) was underrepresented in diseased subjects. Single nucleotide polymorphisms in NGF gene (rs6330) and NGFR gene (rs2072446 and rs734194) are associated with the disease. Furthermore, it was shown that the carriage of the NGF rs6330*T minor allele is associated with increased infarct volume and higher risk of recurrent stroke. In conclusion, our findings suggest that the NGF rs6330*T and NGFR rs2072446*T minor alleles might be nominated as a risk factor for developing ischemic stroke and NGFR rs734194*G minor allele as a protective against this disease at least in Armenian population.