Islet-brain 1/c-Jun N-terminal kinase interacting protein-1 (IB1/JIP-1) promoter variant is associated with Alzheimer's disease

Helbecque, Nicole; Abderrhamani, A; Meylan, Laure; Riederer, Beat M.; Mooser, Vincent; Miklóssy, Judith; Delplanque, J.; Boutin, Philippe; Nicod, Pascal; Haefliger, Jacques‐Antoine; Cottel, Dominique; Amouyel, Philippe; Froguel, Philippe; Waeber, Gérard

doi:10.1038/sj.mp.4001342

Cited by 3 publications

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“…The proline-directed tau kinases genes CSNK1D and the mitogen-activated protein kinase (MAPK) family comprising p38s (␣ and ␤), JNKs (1, 2 and 3) and its activator IB1, and ERKs (1 and 2) and their activators MEKs (1 and 2), were not associated with AD risk in the present study. However, the interaction between the minor allele of a polymorphism in the 5´regulatory region (−499, rs1554338) of IB1 and either the major allele of LRP1 (exon 3, rs1799986) [17] or the minor allele of LRP8 (exon 19, rs5174) [18] has been associated with AD risk.…”

Section: Discussionmentioning

confidence: 99%

Genetic Variation in the Tau Kinases Pathway May Modify the Risk and Age at Onset of Alzheimer's Disease

Vázquez-Higuera

Mateo

Sánchez‐Juan

et al. 2011

JAD

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Tau abnormal hyperphosphorylation and the formation of neurofibrillary tangles in the Alzheimer's disease (AD) brain is the result of upregulation of tau kinases. In a group of 729 Spanish late-onset AD patients and 670 healthy controls, we examined variations into a set of 20 candidate genes of kinases involved in tau phosphorylation at AD-related sites (PRKACB; CAMK2A; MARK1, 2, 3 and 4; CSNK1D; CDC2; RPS6KB1 and 2; p38α and β; IB1; JNK1, 2 and 3; MEK1 and 2; ERK1 and 2), to address hypotheses of genetic variation that might influence both AD risk and age at disease onset. There was an increased frequency of RPS6KB2 (intron 2, rs917570) minor allele in patients (50%) versus controls (39%) (OR = 1.52; 95% CI 1.30-1.77; p = 1.24 × 10-5 Bonferroni corrected), and the presence of this minor allele was significantly (p = 4.2 × 10-5) associated with a 3-years later onset of AD (mean age 74.1 years) when compared to age at onset of non-minor allele carriers (mean age 71.1 years). In APOE non-ε4 allele carriers, the combined effect of AD-associated risk alleles from the genes of CDC2, RPS6KB1 and 2, p38α, JNK (1, 2 and 3), MEK2, and ERK2 was significantly (p = 0.002) associated with a late-onset (>76 years) of AD. The CDC2 AGC haplotype derived from SNPs in introns 3 (rs2448347), 5 (rs2456772), and 7 (rs1871447) showed a protective effect against AD in APOE non-ε4 allele carriers (permutation p = 1.0 × 10-4) with a frequency of 9% in cases and 15% in controls. Common genetic variation in the tau kinases pathway does underlie individual differences not only in susceptibility to AD but also in disease phenotype (age at disease onset).

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Section: Discussionmentioning

confidence: 99%

Genetic Variation in the Tau Kinases Pathway May Modify the Risk and Age at Onset of Alzheimer's Disease

Vázquez-Higuera

Mateo

Sánchez‐Juan

et al. 2011

JAD

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Transcriptional Control of Nerve Cell Death, Survival and Repair

Cameron

Dragunow

Immediate Early Genes in Sensory Processing, Cognitive Performance and Neurological Disorders

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Association between LRP1 C766T polymorphism and Alzheimer’s disease susceptibility: a meta-analysis

Wang

Liu

Wang³

et al. 2017

Sci Rep

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Low density lipoprotein receptor-related protein 1 (LRP1) C766T polymorphism (rs1799986) has been extensively investigated for Alzheimer’s disease (AD) susceptibility. However, results in different studies have been contradictory. Therefore, we conducted a meta-analysis containing 6455 AD cases and 6304 controls from 26 independent case–control studies to determine whether there was an association between the LRP1 C766T polymorphism and AD susceptibility. The combined analysis showed that there was no significant association between LRP1 C766T polymorphism and AD susceptibility (TT + CT versus CC: OR = 0.920, 95% CI = 0.817–1.037, P = 0.172). In subgroup analysis, significant decreased AD susceptibility was found among Asian population in allele model (T versus C: OR = 0.786, 95% CI = 0.635–0.974, P = 0.028) and dominant model (TT + CT versus CC: OR = 0.800, 95% CI = 0.647–0.990, P = 0.040). Moreover, T allele of LRP1 C766T was statistically associated with late onset of AD (LOAD) (T versus C: OR = 0.858, 95% CI = 0.748–0.985, P = 0.029; TT + CT versus CC: OR = 0.871, 95% CI = 0.763–0.994, P = 0.040). In conclusion, our meta-analysis suggested that LRP1 C766T polymorphism was associated with lower risk of AD in Asian, and could reduce LOAD risk especially. Considering some limitations of our meta-analysis, further large-scale studies should be done to reach a more comprehensive understanding.

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Islet-brain 1/c-Jun N-terminal kinase interacting protein-1 (IB1/JIP-1) promoter variant is associated with Alzheimer's disease

Cited by 3 publications

References 0 publications

Genetic Variation in the Tau Kinases Pathway May Modify the Risk and Age at Onset of Alzheimer's Disease

Genetic Variation in the Tau Kinases Pathway May Modify the Risk and Age at Onset of Alzheimer's Disease

Transcriptional Control of Nerve Cell Death, Survival and Repair

Association between LRP1 C766T polymorphism and Alzheimer’s disease susceptibility: a meta-analysis

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