Elementary, my dear Watson, the clue is in the genes…or is it?

2003 ◽  
Author(s):  
ANNETTE KARMILOFF-SMITH
Keyword(s):  
Regulation Of Gene Expression ◽  
Gene Interaction ◽  
Developmental Time ◽  
Vital Role ◽  
Adult Brain ◽  
Environment Interaction ◽  
Gene Environment Interaction ◽  
Gene Environment ◽  
Infant Brain ◽  
The Brain

This chapter argues that there is no one-to-one, direct mapping between specific sets of genes and cognitive-level outcomes. Rather, there are very indirect mappings, with the regulation of gene expression more likely to contribute to very broad differences in developmental timing, neuronal type, neuronal density, firing thresholds, neurotransmitter types, etc. It presents the neuroconstructivist framework where gene/gene interaction, gene/environment interaction and, crucially, the process of ontogeny itself (pre- and postnatal development) are all considered to play a vital role in how genes are expressed and how the brain progressively sculpts itself, slowly becoming specialised over developmental time. The infant brain is not simply a miniature version of the adult brain.

scholarly journals Gene–gene and gene-environment interactions on cord blood total IgE in Chinese Han children

2021 ◽  
Vol 17 (1) ◽  
Author(s):  
Li Hua ◽  
Quanhua Liu ◽  
Jing Li ◽  
Xianbo Zuo ◽  
Qian Chen ◽  
...  
Keyword(s):  
Environmental Factors ◽  
Cord Blood ◽  
Synergistic Effects ◽  
Gene Interaction ◽  
Independent Effect ◽  
Environment Interaction ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Gene Environment Interaction ◽  
Gene Environment

Abstract Background IL13, IL4, IL4RA, FCER1B and ADRB2 are susceptible genes of asthma and atopy. Our previous study has found gene–gene interactions on asthma between these genes in Chinese Han children. Whether the interactions begin in fetal stage, and whether these genes interact with prenatal environment to enhance cord blood IgE (CBIgE) levels and then cause subsequent allergic diseases have yet to be determined. This study aimed to determine whether there are gene–gene and gene-environment interactions on CBIgE elevation among the aforementioned five genes and prenatal environmental factors in Chinese Han population. Methods 989 cord blood samples from a Chinese birth cohort were genotyped for nine single-nucleotide polymorphisms (SNPs) in the five genes, and measured for CBIgE levels. Prenatal environmental factors were collected using a questionnaire. Gene–gene and gene-environment interactions were analyzed with generalized multifactor dimensionality methods. Results A four-way gene–gene interaction model (IL13 rs20541, IL13 rs1800925, IL4 rs2243250 and ADRB2 rs1042713) was regarded as the optimal one for CBIgE elevation (testing balanced accuracy = 0.5805, P = 9.03 × 10–4). Among the four SNPs, only IL13 rs20541 was identified to have an independent effect on elevated CBIgE (odds ratio (OR) = 1.36, P = 3.57 × 10–3), while the other three had small but synergistic effects. Carriers of IL13 rs20541 TT, IL13 rs1800925 CT/TT, IL4 rs2243250 TT and ADRB2 rs1042713 AA were estimated to be at more than fourfold higher risk for CBIgE elevation (OR = 4.14, P = 2.69 × 10–2). Gene-environment interaction on elevated CBIgE was found between IL4 rs2243250 and maternal atopy (OR = 1.41, P = 2.65 × 10–2). Conclusions Gene–gene interaction between IL13 rs20541, IL13 rs1800925, IL4 rs2243250 and ADRB2 rs1042713, and gene-environment interaction between IL4 rs2243250 and maternal atopy begin in prenatal stage to augment IgE production in Chinese Han children.

scholarly journals Digenic Inheritance and Gene-Environment Interaction in a Patient With Hypertriglyceridemia and Acute Pancreatitis

2021 ◽  
Vol 12 ◽  
Author(s):  
Qi Yang ◽  
Na Pu ◽  
Xiao-Yao Li ◽  
Xiao-Lei Shi ◽  
Wei-Wei Chen ◽  
...  
Keyword(s):  
Acute Pancreatitis ◽  
Gene Interaction ◽  
Response To Treatment ◽  
Environment Interaction ◽  
Gene Environment Interaction ◽  
Digenic Inheritance ◽  
Gene Environment ◽  
Heavy Alcohol Consumption ◽  
History Of ◽  
The Common

The etiology of hypertriglyceridemia (HTG) and acute pancreatitis (AP) is complex. Herein, we dissected the underlying etiology in a patient with HTG and AP. The patient had a 20-year history of heavy alcohol consumption and an 8-year history of mild HTG. He was hospitalized for alcohol-triggered AP, with a plasma triglyceride (TG) level up to 21.4 mmol/L. A temporary rise in post-heparin LPL concentration (1.5–2.5 times of controls) was noted during the early days of AP whilst LPL activity was consistently low (50∼70% of controls). His TG level rapidly decreased to normal in response to treatment, and remained normal to borderline high during a ∼3-year follow-up period during which he had abstained completely from alcohol. Sequencing of the five primary HTG genes (i.e., LPL, APOC2, APOA5, GPIHBP1 and LMF1) identified two heterozygous variants. One was the common APOA5 c.553G > T (p.Gly185Cys) variant, which has been previously associated with altered TG levels as well as HTG-induced acute pancreatitis (HTG-AP). The other was a rare variant in the LPL gene, c.756T > G (p.Ile252Met), which was predicted to be likely pathogenic and found experimentally to cause a 40% loss of LPL activity without affecting either protein synthesis or secretion. We provide evidence that both a gene-gene interaction (between the common APOA5 variant and the rare LPL variant) and a gene-environment interaction (between alcohol and digenic inheritance) might have contributed to the development of mild HTG and alcohol-triggered AP in the patient, thereby improving our understanding of the complex etiology of HTG and HTG-AP.

scholarly journals The ecological genetics of growth in Drosophila 1. Body size and developmental time on different diets 1. Body size and developmental time on different diets

1960 ◽  
Vol 1 (2) ◽  
pp. 288-304 ◽  
Author(s):  
Forbes W. Robertson
Keyword(s):  
Body Size ◽  
Development Time ◽  
Small Body ◽  
Growth Period ◽  
Developmental Time ◽  
Ecological Genetics ◽  
Genetic Differences ◽  
Environment Interaction ◽  
Gene Environment Interaction ◽  
Gene Environment

1. The interrelations between environment and the phenotypic expression of genetic differences have not received the attention they merit. Laboratory studies in quantitative inheritance, either by choice of character or experimental conditions, have not shed much light on this problem. Selection for the same character in different environments is likely to involve qualitative differences in physiology and development. Comparative study of such changes will throw light on the genetics of development generally, which in turn is relevant to how far the selection response can be pushed in a given direction. Since statistical variation between individuals must ultimately be interpreted in biological terms, the unnatural barriers between quantitative and physiological genetics must be broken down to clear the way for a greater variety of experimental analysis and a more widely based approach to the interpretation of individual differences in populations. The ecology of the animal provides the point of departure and guide to the kind of environmental variation which should be studied first. Since the suggested approach cuts across the conventional limits of quantitative, physiological and population genetics and exploits the concepts and methods of these alternative approaches to a common end, it is convenient to have a descriptive label. The term ‘ecological genetics’ has been adopted.2. This introductory paper is the first of a series dealing with experiments orientated along these lines. Since environmental variation largely consists of variation in the quantity and composition of the diet, the growth of individuals from a cage population of Drosophila melanogaster and also other strains has been studied on a variety of aseptic, synthetic diets. Body size and duration of the larval period are taken as measures of growth. There is a well-marked ability to regulate body size, by extending the duration of development, provided the diet is not too deficient. When the diet is further reduced development time is further lengthened and body size is reduced as well.3. To test for genetic differences in reaction to the diet, strains have been created by selecting for large or small body size, and their performance, together with that of the cross between them, has been compared with the performance of unselected individuals on alternative diets for the first few generations of mass selection. There is evidence of gene-environment interaction quite early in selection, and after six generations striking differences were detected. It is concluded that genetic differences in reaction to different sub-optimal diets are widespread in the population.4. The within-culture variance is increased by growing larvae on progressively more deficient diets and is approximately twice as great on a low-protein diet as on the usual live yeast medium. This increase is attributed to the segregation of genetic differences which are unimportant and contribute little to the variance under more favourable conditions.5. Comparison of body size and development time in repeated tests with two diets lacking fructose or deficient in ribonucleic acid revealed evidence of a plasticity of response to minor nutritional variation which is characterized by a positive association between body size and the duration of the growth period. This relationship is the reverse of that associated with crude variation in the diet which leads to a negative association between development time and body size. This plasticity of response probably represents an aspect of physiological homeostasis. Genetic differences in the magnitude and direction of this response probably contribute to gene-environment interaction generally, and this probably accounts for apparent discrepancies in alternative estimates of the response to selection for large and small body size when these are based on deviations from the unselected. This suggests the need for determining how far body size may be increased either by altering the growth rate or by extending the growth period, and also how far strains differentiated in such respects differ in their reaction to controlled differences in nutrition.

Gene-Environment Interaction in the Determination of Levels of Haemostatic Variables Involved in Thrombosis and Fibrinolysis

1997 ◽  
Vol 78 (01) ◽  
pp. 457-461 ◽  
Author(s):  
S E Humphries ◽  
A Panahloo ◽  
H E Montgomery ◽  
F Green ◽  
J Yudkin
Keyword(s):  
Environment Interaction ◽  
Gene Environment Interaction ◽  
Gene Environment
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