Publication   Genetic association study   Ethnicity (sample size)   Body weight (sample size)   Genetic variation/susceptibility locus   Occurrence   Feeding behavior and body weight alterations   Biochemical alteration   Energy and glucose homeostasis
Hager et al., 1998  Genome-wide scan for human obesity-susceptibility loci using model-free multipoint linkage analysis  French Caucasian (514)  Overweight (72), obese (107), morbidly obese (196), and non-obese controls (139)  Chromosomal locus 5q13.2 (CART gene)  Higher allele frequencies in overweight and obese sibpairs  N/A  Linkage with ↑ serum leptin levels  ↑ Fasting glucose and insulin levels
Challis et al., 2000  Mutational analysis and population genetics  British Caucasian (902)  Morbidly obese (91) and non-obese (811)  1475A>G SNP (3′-UTR of exon 3)  NSD in allele frequency between obese and control subjects  Potential link to early-onset obesity; ↓ waist-to-hip ratio in male heterozygotes  Potential interference with fat distribution and contribution to dyslipidaemia  ↓ Fasting plasma insulin and fasting triglycerides in male heterozygotes
del Giudice et al., 2001  Single-strand conformation polymorphism and automatic sequencing  Italian (230)  Obese (130) and non-obese controls (100)  Leu34Phe missense mutation in pro-CART (729G>C in exon 2)  A large family of obese subjects across three generations  Hyperphagia and severe early-onset obesity even when heterozygous for allele  Altered post-translational processing; intracellular missorting of proCART; bioactive CART deficiency in the serum; ↑ serum leptin levels  ↓ Resting metabolic rates; linked to type II diabetes
Yamada et al., 2002  Single-strand conformation polymorphism and direct sequencing  Japanese (558)  Overweight and obese (528), non-obese controls (30)  6 polymorphic sites at 5′-flanking region, e.g., −156A>G [corresponds to −175A>G (Guerardel et al., 2005)], −929G>C  Higher allele frequencies in obese subjects than controls  ↑ Genetic predisposition to obesity when in linkage disequliibrium  N/A  Potential association with type II diabetes
Guerardel et al., 2005  Sequence variability screen and haplotype analysis  French Caucasian (660)  Morbidly obese (292) and non-obese controls (368)  1475A>G SNP (3′-UTR of exon 3)  Higher allele frequencies in morbidly obese subjects than controls  N/A  N/A  N/A
Guerardel et al., 2005  Sequence variability screen and haplotype analysis  French Caucasian (989)  Morbidly obese (621) and non-obese controls (368)  5′ SNPs: −3608T>C, −3607C>T, −1702C>T, −175A>G; 3′UTR SNP: ΔA1457  Higher allele frequencies in morbidly obese subjects than controls; association enhanced with the SNP haplotype structure 3608T>C (or 175A>G) and −1702C>T, combined to ΔA1457  N/A  N/A  N/A
Guerardel et al., 2005  Sequence variability screen and haplotype analysis  French (2340) and Swiss (385) Caucasian  Moderately obese (619), morbidly obese (1006) and non-obese controls (1100)  −3608T>C SNP (promoter region)  Higher allele frequencies  ↑ Genetic predisposition to obesity  Potential modulation of nuclear protein binding affinity  N/A
Vasseur et al., 2007  Sequence variability screen and haplotype analysis  French Caucasian (840)  General population sample  5′ SNPs: −3608T>C, −1702C>T, −175A>G (promoter region)  NSD in allele frequency between subjects with different BMI; strong linkage disequilibrium between the SNPs, haplotypic effect attributed to −3608T>C  N/A  ↓ Plasma LDL-cholesterol level and LDL/HDL ratio; potential protection against atherogenesis  Potential association with lipid metabolism and atherogenicity
Rigoli et al., 2010  Family-based association methods  Italian (320)  Overweight (103), obese (30) and non-obese controls (187)  1475A>G SNP (3′-UTR of exon 3)  Higher allele frequencies in overweight (0.07) and obese (0.08) children compared to non-obese unrelated controls (children and/or adults) (0.02); preferential transmission of 1475G allele from heterozygous parents to overweight and obese offspring  Early-onset obesity  N/A  N/A