Estimating genetic and environmental contributions to complex traits and diseases. Use of migration, twin, candidate gene and genome-wide association designs.

Bin Wang

    Research output: ThesisThesis fully internal (DIV)

    166 Downloads (Pure)

    Abstract

    The current thesis applied migration, twin, candidate gene, genome-wide association and genetic risk score study designs to evaluate genetic (G) and environmental (E) influences on human complex traits and diseases.
    The migration study found the Yi people in China to be sensitive to the transition to an urbanized lifestyle. The undergoing urbanization in China may lead to increasing numbers of Yi-migrant-like people at higher risk of cardiovascular disease. Three twin studies estimated the effect of G, E and their interaction. Twin pairs discordant for type 1 diabetes indicated that the environmental factors causing type 1 diabetes discordant status were not the same as those involved with thyroid autoimmunity. A twin study on dry eye disease found genetic factors contribute moderately to its diagnosis, symptoms and signs.

    In the largest twin study so far, estimated heritability’s for systolic blood pressure, diastolic blood pressure, height and BMI were 0.401, 0.297, 0.866 and 0.639, respectively. The gene-BMI interaction analysis showed that BMI did not have a modifying effect on genetic and environmental influences on blood pressure. Two candidate gene studies in Chinese showed that the association of rs2241766 with type 2 diabetes was not significant in Yi minority and Han majority people, and SNP rs8049367 was significantly associated with developmental dyslexia. A GWAS found four SNPs mapping to the SPOCK1 gene associated with mathematics ability. Finally, the last study found, for most traits, that variances explained by adult-based genetic risk scores in adolescents were comparable with or slightly smaller than those in adults.
    Original languageEnglish
    QualificationDoctor of Philosophy
    Awarding Institution
    • University of Groningen
    Supervisors/Advisors
    • Snieder, Harold, Supervisor
    Award date30-Jun-2021
    Place of Publication[Groningen]
    Publisher
    DOIs
    Publication statusPublished - 2021

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