Exome sequencing in Thai patients with familial obesity

• DOI: 10.4238/gmr.15028311
• Publication Date: 2016-07-15T14:10:34Z
• Authors: S. Kaewsutthi; J. Santiprabhob; B. Phonrat; A. Tungtrongchitr; P. Lertrit; R. Tungtrongchitr
• Keywords: Exome

Obesity is a major worldwide health issue, with increasing prevalence in adults and children from developed developing countries. causes several chronic diseases, including cardiovascular respiratory osteoarthritis, hypertension, stroke, type II diabetes, obstructive sleep apnea, types of cancer. Previous genome-wide association studies have identified genes associated obesity, LEP, LEPR, POMC, PCSK1, FTO, MC3R, MC4R, GNPDA2, TMEM18, QPCTL/GIPR, BDNF, ETV5, MAP2K5/SKOR1, SEC16B, SIM1, TNKS/MSRA. However, most these variants are found the intronic or intergenic regions, making it difficult to elucidate underlying mechanisms. Therefore, this study, we performed whole exome sequencing protein-coding regions total genome (exome) two obese one normal subject belonging same Thai family identify responsible for obesity. We 709 functional that were differentially expressed between subjects; these, 65 predicted be deleterious protein structure function. The minor allele frequency 14 (ALOX5AP, COL9A2, DEFB126, GDPD4, HCRTR1, MLL3, OPLAH, OR4C45, PRIM2, RXFP2, TIGD6, TRPM8, USP49, ZNF596) was low, indicating causal could complex traits diseases. Genotyping revealed TRPM8 regulation feeding behavior energy expenditure. These constituted network pathways, lipid metabolism, signaling transduction, immune, membrane transport, gene seemed play important roles