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  1. Badamasi IM, Lye MS, Ibrahim N, Stanslas J
    J Neural Transm (Vienna), 2019 06;126(6):711-722.
    PMID: 31111219 DOI: 10.1007/s00702-019-02014-y
    Major depressive disorder (MDD) is primarily hinged on the presence of either low mood and/or anhedonia to previously pleasurable events for a minimum of 2 weeks. Other clinical features that characterize MDD include disturbances in sleep, appetite, concentration and thoughts. The combination of any/both of the primary MDD symptoms as well as any four of the other clinical features has been referred to as MDD. The challenge for replicating gene association findings with phenotypes of MDD as well as its treatment outcome is putatively due to stratification of MDD patients. Likelihood for replication of gene association findings is hypothesized with specificity in symptoms profile (homogenous clusters of symptom/individual symptoms) evaluated. The current review elucidates the genetic factors that have been associated with insomnia symptom of MDD phenotype, insomnia symptom as a constellation of neuro-vegetative cluster of MDD symptom, insomnia symptom of MDD as an individual entity and insomnia feature of treatment outcome. Homozygous CC genotype of 3111T/C, GSK3B-AT/TT genotype of rs33458 and haplotype of TPH1 218A/C were associated with insomnia symptom of MDD. Insomnia symptom of MDD was not resolved in patients with the A/A genotype of HTR2A-rs6311 when treated with SSRI. Homozygous short (SS) genotype-HTTLPR, GG genotype of HTR2A-rs6311 and CC genotype of HTR2A-rs6313 were associated with AD treatment-induced insomnia, while val/met genotype of BDNF-rs6265 and the TT genotype of GSK-3beta-rs5443 reduced it. Dearth of association studies may remain the bane for the identification of robust genetic endophenotypes in line with findings for genotypes of HTR2A-rs6311.
    Matched MeSH terms: Endophenotypes*
  2. Jani R, Byrne R, Love P, Agarwal C, Peng F, Yew YW, et al.
    PMID: 32121357 DOI: 10.3390/ijerph17051573
    Caregivers' perceptions of children's pickiness are relatively scarce in relation to the five core food groups and their importance in providing a nutritionally balanced diet. Furthermore, there is no validated questionnaire that examines child-reported food preferences in an age-appropriate manner, and the use of terms such as a "picky eater" can be attributed to environmental and genetic factors. Despite potential links between children's food preferences and endophenotype bitter taste, associations between bitter taste sensitivity and picky eating is relatively unexplored. The proposed cross-sectional study aims to develop and validate a parent-reported core-food Picky Eating Questionnaire (PEQ) and child-reported Food Preference Questionnaire (C-FPQ) and simultaneously investigate environmental and phenotype determinants of picky eating. The study will be conducted in three stages: Phase 1, piloting PEQ and C-FPQ questionnaires (15-20 primary caregivers and their children aged 7-12 years); Phase 2 and 3, validating the revised questionnaires and evaluating the 6-n-propylthiouracil (PROP) bitter taste sensitivity to examine perception to bitter taste (369 primary caregivers and their children). Study findings will generate new validated tools (PEQ, C-FPQ) for use in evidence-based practice and research and explore picky eating as a behavioural issue via the potential genetic-phenotype basis of bitter taste sensitivity.
    Matched MeSH terms: Endophenotypes*
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