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Abstract
Background. Senile systemic amyloidosis (SSA) is characterized by deposition of wild‐type transthyretin (TTR)‐based amyloid in parenchymal organs in elderly individuals. Previously, no population‐based studies have been performed on SSA.
Methods. Here we have studied the prevalence and risk factors for SSA in a Finnish autopsied population aged 85 or over, as part of the population‐based Vantaa 85+ Autopsy Study (n = 256). The diagnosis of SSA was based on histological examination of myocardial samples stained with Congo red and anti‐TTR immunohistochemistry. The genotype frequencies of 20 polymorphisms in 9 genes in subjects with and without SSA were compared.
Results. The prevalence of SSA was 25%. SSA was associated with age, myocardial infarctions, the G/G (Val/Val) genotype of the exon 24 polymorphism in the alpha2‐macroglobulin (α2M), and the H2 haplotype of the tau gene (P‐values 0.002, 0.004, 0.042, and 0.016).
Conclusion. This population‐based study shows that SSA is very common in old individuals, affecting one‐quarter of people aged over 85 years. Myocardial infarctions and variation in the genes for α2M and tau may be associated with SSA.
| BMI | = | body mass index (weight divided by height squared) |
| ACE | = | angiotensin‐converting enzyme |
| AD | = | Alzheimer's disease |
| APOE | = | apolipoprotein E |
| BACE2 | = | beta‐amyloid cleaving enzyme2 |
| Df | = | degrees of freedom |
| LPL | = | lipoprotein lipase |
| LRP | = | low‐density lipoprotein receptor‐related protein |
| MI | = | myocardial infarction |
| OR | = | odds ratio |
| PCR | = | polymerase chain reaction |
| SNP | = | single nucleotide polymorphism |
| SSA | = | senile systemic amyloidosis |
| TTR | = | transthyretin |
| α2M | = | alpha2‐macroglobulin |
| BMI | = | body mass index (weight divided by height squared) |
| ACE | = | angiotensin‐converting enzyme |
| AD | = | Alzheimer's disease |
| APOE | = | apolipoprotein E |
| BACE2 | = | beta‐amyloid cleaving enzyme2 |
| Df | = | degrees of freedom |
| LPL | = | lipoprotein lipase |
| LRP | = | low‐density lipoprotein receptor‐related protein |
| MI | = | myocardial infarction |
| OR | = | odds ratio |
| PCR | = | polymerase chain reaction |
| SNP | = | single nucleotide polymorphism |
| SSA | = | senile systemic amyloidosis |
| TTR | = | transthyretin |
| α2M | = | alpha2‐macroglobulin |
Acknowledgements
We thank Pirjo Tuomi and Tuija Järvinen for skillful technical assistance. The study was supported by the Red Feather Project of the Lions, by Päivikki and Sakari Sohlberg Foundation, Finnish Cultural Foundation, Helsinki University Central Hospital, and by the Finnish Medical Foundation.