In a whole-exome sequencing study of a family with probable AD-type dementia without pathogenic variants in known autosomal dominant dementia disease genes and negative for the apolipoprotein E (APOE) ε4 allele, we identified an extremely rare TREM2 coding variant, that is, a glycine-to-tryptophan substitution at amino acid position 145 (NM_018965.3:c.433G>T/p.[Gly145Trp]).
In a whole-exome sequencing study of a family with probable AD-type dementia without pathogenic variants in known autosomal dominant dementia disease genes and negative for the apolipoprotein E (APOE) ε4 allele, we identified an extremely rare TREM2 coding variant, that is, a glycine-to-tryptophan substitution at amino acid position 145 (NM_018965.3:c.433G>T/p.[Gly145Trp]).
In a whole-exome sequencing study of a family with probable AD-type dementia without pathogenic variants in known autosomal dominant dementia disease genes and negative for the apolipoprotein E (APOE) ε4 allele, we identified an extremely rare TREM2 coding variant, that is, a glycine-to-tryptophan substitution at amino acid position 145 (NM_018965.3:c.433G>T/p.[Gly145Trp]).
We finally identified a rare nonsynonymous variant, rs572750141 (NM_030974.3:p.Gly186Arg), in SHARPIN that was potentially associated with increased risk of LOAD (corrected P = 8.05 × 10<sup>- 5</sup>, odds ratio = 6.1).
Among ε4/ε4 individuals, AD risk increased substantially in a dose-dependent manner with the number of <i>APOE</i> promoter SNP rs405509 <i>T</i> alleles in EastAs <i>(TT</i>: OR (odds ratio) = 27.02, <i>p</i> = 8.80 × 10<sup>-94</sup>; <i>GT</i>: OR = 15.87, <i>p</i> = 2.62 × 10<sup>-9</sup>) and EuroAs (<i>TT</i>: OR = 18.13, <i>p</i> = 2.69 × 10<sup>-108</sup>; <i>GT</i>: OR = 12.63, <i>p</i> = 3.44 × 10<sup>-64</sup>), and rs405509-<i>T</i> homozygotes had a younger onset and more severe cortical atrophy than those with <i>G</i>-allele.
An additional 12 SNPs were associated with the PD phenotype at P ≤ 0.05 (APOE: rs405509, rs439401; TOMM40: rs8106922, and KIBRA: rs4320284, rs11740112, rs10040267, rs13171394, rs6555802, rs2241368, rs244904, rs6555805, and rs10475878).
Among ε4/ε4 individuals, AD risk increased substantially in a dose-dependent manner with the number of <i>APOE</i> promoter SNP rs405509 <i>T</i> alleles in EastAs <i>(TT</i>: OR (odds ratio) = 27.02, <i>p</i> = 8.80 × 10<sup>-94</sup>; <i>GT</i>: OR = 15.87, <i>p</i> = 2.62 × 10<sup>-9</sup>) and EuroAs (<i>TT</i>: OR = 18.13, <i>p</i> = 2.69 × 10<sup>-108</sup>; <i>GT</i>: OR = 12.63, <i>p</i> = 3.44 × 10<sup>-64</sup>), and rs405509-<i>T</i> homozygotes had a younger onset and more severe cortical atrophy than those with <i>G</i>-allele.
Also, we replicated previous reports of GBA coding variants (rs2230288: p.E365K; rs75548401: p.T408M) being associated with greater motor and cognitive decline over time, and an APOE E4 tagging variant (rs429358) being associated with greater cognitive deficits in patients.
Also, we replicated previous reports of GBA coding variants (rs2230288: p.E365K; rs75548401: p.T408M) being associated with greater motor and cognitive decline over time, and an APOE E4 tagging variant (rs429358) being associated with greater cognitive deficits in patients.
We try to explore whether long-term consumption of two healthy dietary patterns (low-fat [LF] diet or Mediterranean diet [MedDiet]) interacts with the apolipoprotein E (APOE) single-nucleotide polymorphisms (SNPs: rs439401, rs440446 and rs7412) modulating postprandial hypertriglyceridemia (ppHTG) in coronary heart disease (CHD) patients.
<b>Results</b>: Three out of 10 eligible SNPs were shown to be associated with risk of ischemic stroke. rs1800947 in <i>CRP</i> gene (additive model: OR = 2.08, 95% CI: 1.00-4.23) and rs1169288 in <i>HNF1A</i> gene (additive model: OR = 1.45, 95% CI: 1.03-2.06) were associated with an increased risk of ischemic stroke. rs440446 in <i>APOE</i> gene (additive model: OR = 0.63, 95%CI: 0.44-0.88) was associated with a decreased risk of ischemic stroke.
We tested if the ε4 major isoform of the APOE gene and rs405509 and rs440446 promoter and intron-1 polymorphisms predicted risk of any dementia or Alzheimer's disease with diagnoses derived from the Hospital Discharge and Causes of Death Registers in 1453 participants of the Helsinki Birth Cohort Study.
The objective of this study was to determine whether three common genetic polymorphisms [apolipoprotein (APOE) ε4 (rs42938 and rs7412), brain derived neurotrophic factor (BDNF) Met (rs6265), and catechol-O-methyltransferase (COMT) Val (rs4680)] are associated with increased psychiatric symptomatology in individuals with pharmacoresistant epilepsy.
We evaluated the influence of CETP (rs5882 and rs708272), APOE (rs7412, rs429358) and LPL (rs328) gene polymorphisms on triglyceride (TG) response to oral fat tolerance test (OFTT) meal in patients with well-controlled type 2 diabetes mellitus (T2DM).
The AD-associated SNPs rs405509 and rs439401 increased the risk of leprosy per se and multibacillary leprosy (P < 0·005), but the APOE-ε4 allele did not.
The current study aimed to investigate the genetic association between FH disease and ApoE gene polymorphisms (rs429358 and rs7412) in the Saudi population.
Data included demographic information, genetic sampling for the APOE gene and single-nucleotide polymorphisms (SNPs; rs405509, rs429358, rs7412), and daily transcranial Doppler ultrasounds to evaluate for CV.
Two APOE cSNPs (rs429358 and rs7412) resulting in three isoforms and M129V (rs1799990) polymorphism of PRNP were examined for their association with WD and its clinical phenotypes.
Data included demographic information, genetic sampling for the APOE gene and single-nucleotide polymorphisms (SNPs; rs405509, rs429358, rs7412), and daily transcranial Doppler ultrasounds to evaluate for CV.