Analysis of Genes Involved in Body Weight Regulation by Targeted Re-Sequencing

PloS One
Anna-Lena VolckmarA Hinney

Abstract

Genes involved in body weight regulation that were previously investigated in genome-wide association studies (GWAS) and in animal models were target-enriched followed by massive parallel next generation sequencing. We enriched and re-sequenced continuous genomic regions comprising FTO, MC4R, TMEM18, SDCCAG8, TKNS, MSRA and TBC1D1 in a screening sample of 196 extremely obese children and adolescents with age and sex specific body mass index (BMI) ≥ 99th percentile and 176 lean adults (BMI ≤ 15th percentile). 22 variants were confirmed by Sanger sequencing. Genotyping was performed in up to 705 independent obesity trios (extremely obese child and both parents), 243 extremely obese cases and 261 lean adults. We detected 20 different non-synonymous variants, one frame shift and one nonsense mutation in the 7 continuous genomic regions in study groups of different weight extremes. For SNP Arg695Cys (rs58983546) in TBC1D1 we detected nominal association with obesity (pTDT = 0.03 in 705 trios). Eleven of the variants were rare, thus were only detected heterozygously in up to ten individual(s) of the complete screening sample of 372 individuals. Two of them (in FTO and MSRA) were found in lean individuals, nine in extremely obese. In ...Continue Reading

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Dec 9, 2016·FEBS Letters·Zhou ZhouHadi Al-Hasani
Jun 28, 2020·Pflügers Archiv : European journal of physiology·Alexandra Chadt, Hadi Al-Hasani
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Aug 17, 2021·Acta Neuropsychiatrica·Luz M GonzálezGuillermo Gervasini

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Methods Mentioned

BETA
PCRs
Assay
Genotyping
in silico methods
Exome Sequencing

Software Mentioned

Excel
Mutation Taster

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