Data from: Serum amyloid A protein concentration in blood is influenced by genetic differences in the cheetah (Acinonyx jubatus)

Systemic amyloid A (AA) amyloidosis is a major cause of morbidity and mortality among captive cheetahs. The self-aggregating AA protein responsible for this disease is a byproduct of serum amyloid A (SAA) protein degradation. Transcriptional induction of the SAA1 gene is dependent on both C/EBPβ and NF-κB cis-acting elements within the promoter region. In cheetahs, 2 alleles exist for a single guanine nucleotide deletion in the putative NF-κB binding site. In this study, a novel genotyping assay was developed to screen for the alleles. The results show that the SAA1A −97delG allele is associated with decreased SAA protein concentrations in the serum of captive cheetahs (n = 58), suggesting genetic differences at this locus may be affecting AA amyloidosis prevalence. However, there was no significant difference in the frequency of the SAA1A −97delG allele between individuals confirmed AA amyloidosis positive versus AA amyloidosis negative at the time of necropsy (n = 48). Thus, even though there is evidence that having more copies of the SAA1A −97delG allele results in a potentially protective decrease in serum concentrations of SAA protein in captive cheetahs, genotype is not associated with this disease within the North American population. These results suggest that other factors are playing a more significant role in the pathogenesis of AA amyloidosis among captive cheetahs.系统性淀粉样A（AA）淀粉样变性是圈养猎豹发病与死亡的主要诱因之一。引发该疾病的自我聚集型AA蛋白，是血清淀粉样A（SAA）蛋白降解的副产物。SAA1基因的转录诱导，依赖于启动子区域内的CCAAT增强子结合蛋白β（C/EBPβ）与核因子κB（NF-κB）顺式作用元件。在猎豹中，推定的NF-κB结合位点处存在单个鸟苷酸缺失，对应两个等位基因。本研究开发了一种新型基因分型检测方法以筛选此类等位基因。研究结果显示，SAA1A −97delG等位基因与圈养猎豹（n=58）的血清SAA蛋白浓度降低相关，提示该位点的遗传差异或可影响AA淀粉样变性的患病率。然而，在经尸检确诊为AA淀粉样变性阳性与阴性的个体（n=48）中，SAA1A −97delG等位基因的频率并无显著差异。因此，尽管有证据表明携带更多SAA1A −97delG等位基因可使圈养猎豹血清SAA蛋白浓度降低，从而产生潜在的保护作用，但在北美种群中，该基因型与该病并无关联。上述结果表明，其他因素在圈养猎豹AA淀粉样变性的发病机制中发挥更为关键的作用。