Polymorphisms in the human apolipoprotein-J/clusterin gene: ethnic variation and distribution in Alzheimer's disease

Tycko, Benjamin; Feng, L.; Nguyen, L.; Francis, Aren; Hays, Allison; Chung, Wai-Yee; Tang, Ming-Xin; Stern, Yaakov; Sahota, Amrik; Hendrie, Hugh; Mayeux, R.

Apolipoprotein-J/clusterin (APOJ/CLI) shares many biological properties with apolipoprotein-Ε (APOE) including, but not limited to, avid binding with β-amyloid peptide. Thus, APOJ/CLI warrants scrutiny as a candidate Alzheimer’s disease (AD) susceptibility gene. We identified seven nucleotide sequence polymorphisms in APOJ/ CLI, two of which, in exon 7, alter the predicted amino acid sequence. The JVIIB variant is an asparagine-to-histidine substitution, which deletes a glycosylation signal at amino acid 317; the JVIIC variant is an aspartate-to-asparagine substitution, which forms a new glycosylation signal at position 328. Both of these coding variants, as well as two neutral polymorphisms in exon 2, were more frequent in African-Americans than Hispanics and were rare in Caucasians. However, no individual coding or noncoding variant was consistently associated with AD. At the population level, APOJ/CLI polymorphisms are frequent among persons of African descent, but probably do not alter susceptibility to AD.



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February 11, 2022