Dergiler / Turkish Journal of Medical Sciences / 2015 / Cilt: 45 - Sayı: 5

Potential genetic biomarkers in the early diagnosisof Alzheimer disease: APOE and BIN1

Sayfa
1058–1072
Yayın Tarihi
2015-12-04
DOI
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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

Conclusion: There was a strong association between AD and the APOE E4 allele, while no such relation was observed with BIN1 gene polymorphism.

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Amaç & Hipotez:Background/aim: Alzheimer disease (AD) is triggered by interactions of multiple genetic and environmental factors.
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Temel Bulgular & Veri:The APOE gene E4 allele is the best-known risk factor for AD, yet it represents a small ratio of genetic factors.
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Sonuç & Katkı:Conclusion: There was a strong association between AD and the APOE E4 allele, while no such relation was observed with BIN1 gene polymorphism.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alzheimer disease · APOE · BIN1

Özet

Background/aim: Alzheimer disease (AD) is triggered by interactions of multiple genetic and environmental factors. The APOE gene E4 allele is the best-known risk factor for AD, yet it represents a small ratio of genetic factors. According to genome-wide association studies, the BIN1 gene is the second important risk factor for AD, following the APOE gene. We aimed to identify a novel biomarker indicating susceptibility to AD by investigating APOE alleles and BIN1 gene polymorphisms in a Turkish population. Materials and methods: Fifty-three AD patients and 56 controls were included to examine polymorphism and allele frequency of the APOE and BIN1 genes. Genomic DNAs were isolated from whole blood by SDS/proteinase K treatment, phenol-chloroform extraction, and ethanol precipitation. RFLP was done for identification of polymorphisms in the APOE gene and allele-specific PCR was used for the BIN1 gene. Results: Frequency of the APOE E4 allele was higher in the AD patient group, while the frequency of the E2 allele was higher in controls. The E4/E4 genotype was detected in the AD patient group, while this genotype was not observed in the controls. The frequencies of BIN1 alleles were similar in both groups. Conclusion: There was a strong association between AD and the APOE E4 allele, while no such relation was observed with BIN1 gene polymorphism.

Abstract

Background/aim: Alzheimer disease (AD) is triggered by interactions of multiple genetic and environmental factors. The APOE gene E4 allele is the best-known risk factor for AD, yet it represents a small ratio of genetic factors. According to genome-wide association studies, the BIN1 gene is the second important risk factor for AD, following the APOE gene. We aimed to identify a novel biomarker indicating susceptibility to AD by investigating APOE alleles and BIN1 gene polymorphisms in a Turkish population. Materials and methods: Fifty-three AD patients and 56 controls were included to examine polymorphism and allele frequency of the APOE and BIN1 genes. Genomic DNAs were isolated from whole blood by SDS/proteinase K treatment, phenol-chloroform extraction, and ethanol precipitation. RFLP was done for identification of polymorphisms in the APOE gene and allele-specific PCR was used for the BIN1 gene. Results: Frequency of the APOE E4 allele was higher in the AD patient group, while the frequency of the E2 allele was higher in controls. The E4/E4 genotype was detected in the AD patient group, while this genotype was not observed in the controls. The frequencies of BIN1 alleles were similar in both groups. Conclusion: There was a strong association between AD and the APOE E4 allele, while no such relation was observed with BIN1 gene polymorphism.

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Bu Makaleye Atıf Yap

KAYA, G., GÜNDÜZ, E., ACAR, M., HATİPOĞLU, Ö. F., ACAR, B., İLHAN, A., GÜNDÜZ, M. (2015). Potential genetic biomarkers in the early diagnosisof Alzheimer disease: APOE and BIN1. Turkish Journal of Medical Sciences, Cilt: 45 - Sayı: 5, 1058–1072. https://ajindex.com/articles/198435

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Kaynakça (10)

  1. Jellinger KA. Diagnostic accuracy of Alzheimer’s disease: a clinicopathological study. Acta Neuropathol 1996; 91: 219– Adalbert R, Gilley J, Coleman MP. A beta, tau and ApoE4 in Alzheimer’s disease: the axonal connection. Trends Mol Med; 13: 135–142. Bi X. Alzheimer disease: update on basic mechanisms. J Am Osteopath Assoc 2010; 110: S3–S9. Bertram L, Tanzi RE. The current status of Alzheimer’s disease genetics: what do we tell the patients? Pharmacol Res 2004; 50: –396. Chapuis J, Hansmannel F, Gistelinck M, Mounier A, Van Cauwenberghe C, Kolen KV, Geller F, Sottejeau Y, Harold D, Dourlen P. Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology. Mol Psychiatry 2013;: 1225–1234.
  2. Weisgraber KH, Mahley RW. Human apolipoprotein E: the Alzheimer’s disease connection. FASEB J 1996; 10: 1485–1494.
  3. Rall SC Jr, Weisgraber KH, Mahley RW. Human apolipoprotein E. The complete amino acid sequence. J Biol Chem 1982; 257: –4178. Boschert U, Merlo-Pich E, Higgins G, Roses AD, Catsicas S. Apolipoprotein E expression by neurons surviving excitotoxic stress. Neurobiol Dis 1999; 6: 508–514.
  4. Mahley RW, Paloğlu KA, Atak Z, Dawson-Pepin J, Langlois AM. Turkish Heart Study: Lipids lipoproteins and apolipoproteins. J Lipid Res 1995; 36: 839–859.
  5. Zannis VI, Breslow JL, Utermann G, Mahley RW, Weisgraber KH, Havel RJ, Goldstein JL, Brown MS, Schonfeld G, Hazzard WR et al. Proposed nomenclature of apoE isoproteins, apoE genotypes, and phenotypes. J Lipid Res 1982; 23: 911–914.
  6. Poirier J, Davignon J, Bouthillier D, Kogan S, Bertrand P, Gauthier S. Apolipoprotein E polymorphism and Alzheimer’s disease. Lancet 1993; 342: 697–699.
  7. Rebeck G, Reiter J, Strickland D, Hyman B. Apolipoprotein E in sporadic Alzheimer’s disease: allelic variation and receptor interactions. Neuron 1993; 11: 575–580.
  8. Arriagada PV, Growdon JH, Hedley-Whyte ET, Hyman BT. Neurofibrillary tangles but not senile plaques parallel duration and severity of Alzheimer disease. Neurology 1992; 42: 631– Folstein MF, Folstein SE, McHugh PR. ‘Mini-mental state’. A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 1975; 12: 189–198.
  9. McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM. Clinical diagnosis of Alzheimer’s disease: report of the NINCDS-ADRDA work group under the auspices of Department of Health and Human Services Task Force on Alzheimer’s Disease. Neurology 1984; 34: 939–944.
  10. Rassas AA, Mrabet KH, Hadj FS, Sahnoun S, Bat