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. 2019 May 23;12:667–684. doi: 10.2147/DMSO.S199542

Table 1.

Candidate genes and genetic variants included in this study

Gene Chromosome location Biological relevance dbSNP# SNP location MAF* Previous studies
Agouti related protein (AGRP) 16q22 Endogenous antagonist of melanocortin receptors (MC4R and MC3R) that regulates appetite and energy expenditure. rs5030980 Exon 3 0.015

  • Associated with BMI in European Americans (n=1,982) and body weight in Quebec families (n=874).53,54

  • No association with BMI in Dutch adults (n=582) and Latvian population (n=789).12,57
Melanocortin 4 receptor (MC4R) 18q21.3/18q22 Stimulation of MC4R leads to a reduction in energy intake and an increased basal energy expenditure. rs17782313 188 kb downstream of MC4R 0.240

  • No association with biochemical or anthropometric variables in individuals with Northern Han Chinese ancestry (n=3,859).64

  • No relation with anthropometric and dietary parameters in a Brazilian childhood cohort followed-up since birth (n=745).14

  • Associated with obesity susceptibility in a Japonese (n=1,129), Caucasian (n=1,361) and North Indians cohorts (n=696).35,59,65
Brain-derived neurotrophic factor (BDNF) 11p13 Protein involved in neuronal survival, maturation and differentiation during central nervous system development. rs4074134 ~31 kb of 3’-flanking of BDNF 0.252

  • Associated with BMI, WC, fasting and postprandial glucose, fasting serum insulin and HOMA-IR in subjects with Northern Han Chinese ancestry (n=3,859).64

  • Linked to BMI and body weight in large mixed cohort (n=31,392).66

  • Risk factor for obesity in a Japanese cohort (n=1,129).35
Ghrelin (GHRL) 3p26 Orexigenic peptide that modulates appetite, gastrointestinal motility, gastric acid release and pancreatic secretions. rs696217 Exon 4 0.083

  • Carriers of the mutant allele (T) showed a significant reduction in BMI after 52 weeks of bariatric surgery (n=100)67

  • Positively associated with BMI and obesity susceptibility in a Japanese cohort (n=5,112).10

  • No association with obesity, eating behavior and glucose metabolisms in French families (n=2,334).51
Neuropeptide Y (NPY) 7q15.1 This peptide regulates energy homeostasis thought binds to its receptor on PVN . rs535870237 17-bp deletion at 5’UTR 0.00039

  • Observed in one Mexican American family (n=934).58
Fat Mass Obesity-Associated gene (FTO) 16q12.2 Demethylation enzyme involved in controlling of energy homeostasis, DNA methylation and abiogenesis rs9939609 Intron 1 0.340

  • No association with obesity phenotype in Egyptian adolescents and children; however, the presence of the risk allele was linked to higher LDL cholesterol (n=200).42

  • Associated with morbid obesity risk in the Brazilian adults (n=239) and Mexican population (n=1,156).13,44

  • Associated with satiety sensations (n=70), food intake control (n=97), food choice (n=97) and cardiorespiratory fitness (n=420).25,49,68

Abbreviations: BMI, Body mass index; dbSNP, Single nucleotide polymorphism database; HOMA-IR, Homeostatic model assessment - Insulin resistance; LDL, Low density lipoprotein; MAF, Minor allele frequency; MC3R, Melanocortin 3 receptor; PVN, Paraventricular nucleus; SNP, Single nucleotide polymorphism; UTR, Untranslated region; WC, Waist circumference.