Rs1880753 SNP boosts PSP/CBD risk and triggers earlier onset.
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Rs1880753 consistently raises PSP/CBD disease risk under additive model. Rs1880753 shortens age at onset under additive model. Rs1880753 sits 160 kb upstream of tau gene. Rs1880753 lies 50 kb upstream of CRHR1 gene. Rs1880753 likely acts as cis-element regulating tau or CRHR1 expression. Rs45502095 H1 variant accelerates age at onset under recessive model. H1C haplotype fails replication for PSP/CBD. H1E′A haplotype fails replication for PSP/CBD. H1E′C sub-haplotype strongly associates with PSP. H1E′C sub-haplotype strongly associates with CBD. H1Q sub-haplotype strongly associates with PSP. H1Q sub-haplotype strongly associates with CBD. H1E′C includes MAPT and CRHR1 genes. H1Q includes MAPT and CRHR1 genes. Risk variant for PSP/CBD likely resides in H1E′C or H1Q.

Genetics Science Health

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