Several studies have reported an association between the UBQ-8i (rs12344615) polymorphism of the UBQLN1 gene and risk of Alzheimer's disease (AD), but these findings remain controversial.
Allele C of rs12344615 of the UBQLN1 gene is not a risk factor for MCI or AD (OR = 0.88, CI95% 0.60-1.31 p7equal;s0.542 and OR = 0.73, CI95% 0.51-1.02 p=0.079, respectively).
Allele C of rs12344615 of the UBQLN1 gene is not a risk factor for MCI or AD (OR = 0.88, CI95% 0.60-1.31 p7equal;s0.542 and OR = 0.73, CI95% 0.51-1.02 p=0.079, respectively).
Only two UBQLN1 coding variants were detected in the familial and sporadic ALS DNA set; one, the missense mutation p.E54D, was identified in a single patient with atypical motor neuron disease consistent with Brown-Vialetto-Van Laere syndrome (BVVLS), for whom c20orf54 mutations had been excluded.
Only two UBQLN1 coding variants were detected in the familial and sporadic ALS DNA set; one, the missense mutation p.E54D, was identified in a single patient with atypical motor neuron disease consistent with Brown-Vialetto-Van Laere syndrome (BVVLS), for whom c20orf54 mutations had been excluded.
Only two UBQLN1 coding variants were detected in the familial and sporadic ALS DNA set; one, the missense mutation p.E54D, was identified in a single patient with atypical motor neuron disease consistent with Brown-Vialetto-Van Laere syndrome (BVVLS), for whom c20orf54 mutations had been excluded.
Recently, a single nucleotide polymorphism (SNP, A-->G) in intron 8 of UBQLN 1 at the rs12344615 site (UBQ-8i) on chromosome 9q22 was associated with a higher risk of late-onset Alzheimer's disease (AD).