Andreoli Virginia, Nicoletti Giuseppe, Romeo Nelide, Condino Francesca, La Russa Antonella, Liguori Maria, Manna Ida, Spadafora Patrizia, Quattrone Aldo, Cittadella Rita
Institute of Neurological Sciences, National Research Council, C/da Burga, Pianolago di Mangone, Italy.
Neurochem Res. 2007 Sep;32(9):1445-9. doi: 10.1007/s11064-007-9329-6. Epub 2007 Apr 4.
Tumor Necrosis Factor Receptor Super Family 6 gene (TNFRSF6), also known as FAS, encodes the Fas antigen, a cell surface receptor mediating cell apoptosis, situated on chromosome 10q located near the region of linkage to sporadic Alzheimer's disease (sAD). FAS levels have been reported elevated in the brain of AD patients. Due to both positional and pathobiological criteria, the association of the FAS antigen with this pathology is of great interest. We have tested two SNPs in the FAS gene in 223 Italian patients with non-familial AD from Southern Italy (Calabria region) and 211 healthy control subjects. No significant differences in allelic and genotypic distributions were found between cases and controls, or late and early-onset AD patients, thus suggesting that these polymorphisms do not represent an AD risk factor in our population.
肿瘤坏死因子受体超家族6基因（TNFRSF6），也称为FAS，编码Fas抗原，一种介导细胞凋亡的细胞表面受体，位于10号染色体q上，靠近与散发性阿尔茨海默病（sAD）的连锁区域。据报道，AD患者大脑中的FAS水平升高。基于位置和病理生物学标准，Fas抗原与这种病理的关联备受关注。我们在来自意大利南部（卡拉布里亚地区）的223名非家族性AD意大利患者和211名健康对照受试者中检测了FAS基因中的两个单核苷酸多态性（SNP）。病例组与对照组之间，以及晚发型和早发型AD患者之间，在等位基因和基因型分布上均未发现显著差异，因此表明这些多态性在我们的人群中不代表AD的危险因素。
