2021
DOI: 10.3233/jad-201140 View full text |Buy / Rent full text
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Abstract: We aimed to evaluate the association of PLCG2 rs72824905 variant with Alzheimer’s disease (AD) and multiple sclerosis (MS) using large-scale genetic association study datasets. We selected 50,024 AD cases and 467,330 controls, and 32,367 MS cases and 36,012 controls. We found moderate heterogeneity of rs72824905 in different studies. We found significant association between rs72824905 G allele and reduced AD risk (OR = 0.66, 95% CI 0.59–0.74, p = 5.91E-14). Importantly, rs72824905 G allele could also significa… Show more

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“…In 2017, the protective and rare coding variant rs72824905 in PLCG2 (P522R variant) was first reported to be significantly associated with the risk of AD, and this association has been confirmed in GWAS studies in several different populations in subsequent years (Sims et al, 2017;Conway et al, 2018;Dalmasso et al, 2019;Chen et al, 2021;de Rojas et al, 2021). Recently, the P522R variant has become the most studied variant of PLCG2.…”
Section: Phospholipase C-gamma-2 Variants In Alzheimer's Diseasementioning
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“…In 2017, the protective and rare coding variant rs72824905 in PLCG2 (P522R variant) was first reported to be significantly associated with the risk of AD, and this association has been confirmed in GWAS studies in several different populations in subsequent years (Sims et al, 2017;Conway et al, 2018;Dalmasso et al, 2019;Chen et al, 2021;de Rojas et al, 2021). Recently, the P522R variant has become the most studied variant of PLCG2.…”
Section: Phospholipase C-gamma-2 Variants In Alzheimer's Diseasementioning
“…Of note, the PLCG2 P522R variant is also associated with a reduced risk for dementia subtypes other than AD, such as Lewy body and frontotemporal dementia, and is positively associated with longevity ( van der Lee et al, 2019 ; Chen et al, 2021 ). Taken together, various findings suggest that modulation of PLCγ2 signaling may be very promising for the development of AD and other neurological diseases.…”
Section: Discussion and Prospectsmentioning