Screening and Evaluation of Deleterious SNPs in APOE Gene of Alzheimer’s Disease

Masoodi, Tariq; Shammari, Sulaiman A. Al; Al-Muammar, May N.; Alhamdan, Adel A.

doi:10.1155/2012/480609

Cited by 18 publications

(14 citation statements)

References 35 publications

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“…ApoE4 has been confirmed as an important factor for dementia and progress of cognitive impairment in the elderly [100,101]. ApoE protein, Aβ, and tau protein interact in a specific way, which may be the biological basis for ApoE effect on dementia development [102]. The ApoE ε4 allele polymorphism is an independent risk factor for MCI, and cognitive level in ε4 carriers is lower than noncarriers [103].…”

Section: Insulin Resistance and The Apoe ε4 Allelementioning

confidence: 99%

Insulin resistance and cognitive dysfunction

Wang

2015

Clinica Chimica Acta

104

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Section: Insulin Resistance and The Apoe ε4 Allelementioning

confidence: 99%

Insulin resistance and cognitive dysfunction

Wang

2015

Clinica Chimica Acta

104

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“…Larger stability decreases, however, were predicted only for the I585V and L653R variants. Discrepancies in the prediction results obtained from different in silico analysis tools are expected as shown in several similar studies [47], [48]. These are probably due to the overall limitations of in silico analysis and the limitations encountered, for instance, due to lack of structural or functional data for many proteins.…”

Section: Discussionmentioning

confidence: 90%

Functional Properties of Rare Missense Variants of Human CDH13 Found in Adult Attention Deficit/Hyperactivity Disorder (ADHD) Patients

et al. 2013

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The CDH13 gene codes for T-cadherin, a GPI-anchored protein with cell adhesion properties that is highly expressed in the brain and cardiovascular system. Previous studies have suggested that CDH13 may be a promising candidate gene for Attention Deficit/Hyperactivity Disorder (ADHD). The aims of this study were to identify, functionally characterize, and estimate the frequency of coding CDH13 variants in adult ADHD patients and controls. We performed sequencing of the CDH13 gene in 169 Norwegian adult ADHD patients and 63 controls and genotyping of the identified variants in 641 patients and 668 controls. Native and green fluorescent protein tagged wild type and variant CDH13 proteins were expressed and studied in CHO and HEK293 cells, respectively. Sequencing identified seven rare missense CDH13 variants, one of which was novel. By genotyping, we found a cumulative frequency of these rare variants of 2.9% in controls and 3.2% in ADHD patients, implying that much larger samples are needed to obtain adequate power to study the genetic association between ADHD and rare CDH13 variants. Protein expression and localization studies in CHO cells and HEK293 cells showed that the wild type and mutant proteins were processed according to the canonical processing of GPI-anchored proteins. Although some of the mutations were predicted to severely affect protein secondary structure and stability, no significant differences were observed between the expression levels and distribution of the wild type and mutant proteins in either HEK293 or CHO cells. This is the first study where the frequency of coding CDH13 variants in patients and controls is reported and also where the functional properties of these variants are examined. Further investigations are needed to conclude whether CDH13 is involved in the pathogenesis of ADHD or other conditions.

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“…In addition, these significant SNP could also be used to cluster different races, showing that these AD‐associated SNP represented different genomic backgrounds of the studied races. Differences in the prevalence of a disease, and carrier and genotype frequencies among racial groups are well known, and recent advances in genetic studies are very promising . Although the actual cause of AD has yet to be determined, many studies have reported that AD is most likely influenced by genetic factors.…”

Section: Discussionmentioning

confidence: 99%