Genotype-phenotype association
Multivariate Analysis of Genotype–Phenotype Association
... multivariate genotype–phenotype mapping (MGP) separates phenotypic features under strong genetic control from less genetically determined features and thus permits an analysis of the multivariate structure ...
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Detecting significant genotype–phenotype association rules in bipolar disorder: market research meets complex genetics
... Our second finding, rule #6221, showed an association with simple phobia. Two of the three contributing SNPs are located within genes. SNP rs4757144 is located in an intron region of the aryl hydrocarbon receptor ...
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Multiple genotype–phenotype association study reveals intronic variant pair on SIDT2 associated with metabolic syndrome in a Korean population
... SID1 transmembrane family member 2 (SIDT2) is a lysosomal integral membrane protein that promotes insu- lin secretion [30]. Recently, Gao et al. [31] described its ac- tivity in insulin secretion. Sidt2 −/− mice exhibit ...
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Genotype phenotype association analysis identifies the role of α globin genes in modulating disease severity of β thalassaemia intermedia in Sri Lanka
... at genotype phenotype associations of βTI outside the Mediterranean ...clinical phenotype in βTI are ...globin genotype and copy number and known genetic modifiers of haemoglobin F ...
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Efficient techniques for genotype‐phenotype correlational analysis
... A subset of single nucleotide polymorphisms (SNPs) can be used to capture the majority of the information of genotype-phenotype association studies. The primary purpose of this research is to select ...
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Head-and-neck squamous cell carcinoma risk in smokers: no association detected between phenotype and AHR, CYP1A1, CYP1A2, or CYP1B1 genotype
... Worldwide, head-and-neck squamous cell carcinoma (HNSCC) is the sixth most common cancer. An in- creased risk of HNSCC among cigarette smokers is well known. In addition, high-risk types of human papilloma virus (HPV) ...
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Frequency of Alu insertions within the ACE and PR loci in Northwestern Mexicans
... Distribution of Alu polymorphisms shows variability among different world populations [18]. In Mexico, stud- ies concerning the frequency of these biomarkers have been conducted mainly in populations of central and ...
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Metagenome Wide Association of Microbial Determinants of Host Phenotype in Drosophila melanogaster
... gene-based genotype-phenotype association is a valuable tool for identifying bacterial determinants of host traits when employing monoassociated gnotobiotic ani- ...assigning phenotype to ...
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Genotype-phenotype correlations in recessive RYR1-related myopathies
... There has been a recent explosion in the identification of new cases of congenital myopathies due to RYR1 mu- tations, particularly those with recessive inheritance. It is thus now possible to perform mutation ...
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Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta
... Thirty-seven mutations were identified in the COL1A1 / COL1A2 genes and were associated with OI type I, III and IV by direct sequencing in our Taiwanese patients, including 28 COL1A1 mutations and 9 COL1A2 muta- tions. ...
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Genotype-phenotype correlation in Pompe disease, a step forward
... We then tested if the contemporary presence of the DD (ACE) and XX (ACTN3) genotypes, if found in the same patient, will again be associated with some of the clinical features examined. In fact (see results) the DD/XX ...
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Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype
... However, genotype-phenotype correlation studies have not been straightforward and inter- and intra- familial variability in clinical characteristics partially remain unresolved ...
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TBC1D24 genotype–phenotype correlationEpilepsies and other neurologic features
... amino acids, completely conserved among Drosophila species and in key amino acids across species, signi- fying the importance of these domains (figure 2B). Interestingly, the second motif (figure 2B) contains the site of ...
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Genotype phenotype relationship in hereditary amyotrophic lateral sclerosis
... Amyotrophic lateral sclerosis (ALS) is the most common adult-onset motor neuron disease. It is characterized by neuronal loss and degeneration of the upper motor neurons (UMNs) and lower motor neurons (LMNs), and is ...
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Orodental phenotype and genotype findings in all subtypes of hypophosphatasia
... the phenotype and the overlap of the clinical subtypes: for instance, infantile and childhood HP share some clinical symptoms, and patients with adult HP often recall child- hood rickets or premature exfoliation ...
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Visualizing genotype × phenotype relationships in the GAW15 simulated data
... each genotype in affecteds (plot type ...as genotype-specific mean and var- iance, were estimated from the observed data for the spec- ified ...trait association analysis using the Monks-Kaplan ...
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The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype
... C9ORF72 is the most common cause of familial amyo- trophic lateral sclerosis (ALS), frontotemporal lobar dementia (FTLD) and ALS–FTLD, as well as contrib- uting to sporadic forms of these diseases. Screening of large ...
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The Effectiveness of Genetic Algorithms In General Game Playing
... Each encoding in the population (a genotype) is chosen in turn and decoded into the corresponding neural network (a phenotype). This network is then employed in [r] ...
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Associations between the phenotype and genotype of MnSOD and catalase in periodontal disease
... Polymorphisms of antioxidants can modulate genetic activity and formation of antioxidants. In vitro, the alanine allele (MnSOD TC/CC) increased the activity of the MnSOD homotetramer and produced more-efficient import of ...
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Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness
... DNA isolation, PCR amplification, dHPLC (denatured High Performance Liquid Chromatography) and sequencing Informed consent for genotype assessment was obtained from patients (or parents) for being included in the ...
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