The impact of low-frequency genetic variation on metabolic traits of blood serum

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master_Nzau_Makenzi_2019.pdf (12.77 MB)

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Perustieteiden korkeakoulu | Master's thesis
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Date

2019-06-17

Department

Major/Subject

Complex Systems

Mcode

SCI3060

Degree programme

Master’s Programme in Life Science Technologies

Language

en

Pages

51+5

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Abstract

The effect of genetic variation on blood serum metabolite composition has mainlybeen investigated with regard to common variation (CV) or rare Mendelian vari-ation. However, the effect of intermediate, low-frequency variation remains lesscharacterized. This thesis investigates the hypothesis, that low-frequency variationresulting in loss-of-function in metabolic genes induces extreme metabolite accu-mulation or depletion on carrier individuals within blood serum with respect topopulation mean. Prior results of Mendelian metabolic diseases suggest a set ofcandidate metabolites and metabolic genes. The results of CV studies suggest acontrasting gene set. Thus, enrichment of metabolite distribution tails by loss-of-function variant carriers was statistically tested. The results do not support thepresented hypothesis

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Supervisor

Saramäki, Jari

Thesis advisor

Tukiainen, Taru
Ripatti, Samuli

Keywords

metabolomics, genomics, RVAS, Inborn error of metabolism, outlier, loss-of-function

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https://urn.fi/URN:NBN:fi:aalto-201906264210

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[dipl] Perustieteiden korkeakoulu / SCI