Lendon C L, Myers A, Cumming A, Goate A M, St Clair D
Department of Psychiatry, Washington University Medical School, St. Louis, MO 63110, USA.
Neurosci Lett. 1997 Jun 13;228(3):212-4. doi: 10.1016/s0304-3940(97)00393-5.
Mutations in the presenilin 1 gene account for many cases of early onset familial Alzheimer's disease. Homozygosity for the 'T' allele of a polymorphism in the presenilin 1 gene has previously been reported to double the risk for Alzheimer's disease in a late onset Caucasian sample. Here we report that this polymorphism does not incur risk in a case control sample of early onset Alzheimer's disease, possibly suggesting a different disease etiology between the early and late onset forms.
早老素1基因的突变是早发性家族性阿尔茨海默病的许多病例的病因。早老素1基因多态性的“T”等位基因纯合子此前在一个晚发性白种人样本中被报道会使患阿尔茨海默病的风险加倍。在此我们报告，在早发性阿尔茨海默病的病例对照样本中，这种多态性不会引发风险，这可能表明早发性和晚发性形式之间存在不同的疾病病因。
