Редактирование: DSG2 (раздел)

==Publications==

{{medline-entry
|title=Association and interaction effects of Alzheimer's disease-associated genes and lifestyle on cognitive aging in older adults in a Taiwanese population.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/28199971
|abstract=Genome-wide association studies and meta-analyses implicated that increased risk of developing Alzheimer's diseases (AD) has been associated with the [[ABCA7]], [[APOE]], [[BIN1]], [[CASS4]], [[CD2AP]], [[CD33]], [[CELF1]], [[CLU]], [[CR1]], [[DSG2]], [[EPHA1]], [[FERMT2]], [[HLA-DRB1]], [[HLA-DRB4]], [[INPP5D]], [[MEF2C]], [[MS4A4A]], [[MS4A4E]], [[MS4A6E]], [[NME8]], [[PICALM]], [[PLD3]], [[PTK2B]], [[RIN3]], [[SLC24A4]], [[SORL1]], and [[ZCWPW1]] genes. In this study, we assessed whether single nucleotide polymorphisms (SNPs) within these 27 AD-associatedgenes are linked with cognitive aging independently and/or through complex interactions in an older Taiwanese population. We also analyzed the interactions between lifestyle and these genes in influencing cognitive aging. A total of 634 Taiwanese subjects aged over 60 years from the Taiwan Biobank were analyzed. Mini-Mental State Examination (MMSE) scores were performed for all subjects to evaluate cognitive functions. Out of the 588 SNPs tested in this study, only the association between [[CASS4]]-rs911159 and cognitive aging persisted significantly (P = 2.2 x 10-5) after Bonferroni correction. Our data also showed a nominal association of cognitive aging with the SNPs in six more key AD-associated genes, including [[EPHA1]]-rs10952552, [[FERMT2]]-rs4901317, [[MEF2C]]-rs9293506, [[PLD3]]-rs11672825, [[RIN3]]-rs1885747, and [[SLC24A4]]-rs67063100 (P = 0.0018~0.0097). Additionally, we found the interactions among [[CASS4]]-rs911159, EPHA-rs10952552, [[FERMT2]]-rs4901317, [[MEF2C]]-rs9293506, or [[SLC24A4]]-rs67063100 on cognitive aging (P = 0.004~0.035). Moreover, our analysis suggested the interactions of [[SLC24A4]]-rs67063100 or [[MEF2C]]-rs9293506 with lifestyle such as alcohol consumption, smoking status, physical activity, or social support on cognitive aging (P = 0.008~0.041). Our study indicates that the AD-associated genes may contribute to the risk of cognitive aging independently as well as through gene-gene and gene-lifestyle interactions.
|mesh-terms=* Age Factors
* Aged
* Alleles
* Alzheimer Disease
* Cognitive Aging
* Epistasis, Genetic
* Female
* Gene-Environment Interaction
* Genetic Association Studies
* Genetic Predisposition to Disease
* Humans
* Life Style
* Male
* Middle Aged
* Polymorphism, Single Nucleotide
* Risk Factors
* Taiwan
|keywords=* Alzheimer’s diseases
* Gerotarget
* Mini-Mental State Examination
* cognitive aging
* gene-gene and gene-lifestyle interactions
* single nucleotide polymorphisms
|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5421828
}}
{{medline-entry
|title=Age-dependent clinical and genetic characteristics in Japanese patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/23514727
|abstract= Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease caused by desmosomal gene mutations, and presents as ventricular tachycardia and sudden cardiac death. Although the mean age at onset or diagnosis of ARVC/D are reported to be around the 30-40s, the age-dependent clinical and genetic differences remain unknown.  A total of 35 consecutive Japanese probands (23 male) who were clinically diagnosed with ARVC/D were enrolled in the present study, and genetic analysis of [[PKP2]], [[DSP]], [[DSG2]], and [[DSC2]] was done. The mean age at the first symptom and at diagnosis was 38.6±14.8 years and 40.5±17.7 years, respectively. Probands in whom the onset was cardiopulmonary arrest were significantly younger (22.3±15.3 years) than those with arrhythmia (41.1±13.2 years) or congestive heart failure (45.7±8.5 years). On genetic screening, 19 mutation carriers were identified. Although there was no age dependence for each gene mutation carrier, carriers with [[PKP2]] premature stop codon developed the disease at a significantly younger age than other mutation carriers.  The initial clinical manifestations in some young probands were very severe, and [[PKP2]] mutations with a premature stop codon would be associated with disease onset at a younger age. 
|mesh-terms=* Adolescent
* Adult
* Age Factors
* Aged
* Aging
* Arrhythmogenic Right Ventricular Dysplasia
* Asian Continental Ancestry Group
* Desmocollins
* Desmoglein 2
* Desmoplakins
* Female
* Humans
* Japan
* Male
* Middle Aged
* Mutation
* Plakophilins

|full-text-url=https://sci-hub.do/10.1253/circj.cj-12-1446
}}