Table 1.
Summary of main polymorphisms associated with BMI and obesity phenotypes in different populations
| Gene/Name | MAF | Variation location role | Associations with BMI | BMI association, p= | N | Age | Sex | Ethnic Group | Study Design (reference) |
|---|---|---|---|---|---|---|---|---|---|
|
ADRA2A A1780G |
0.16 | 3’-UTR | AA: 24.5, AG:35, GG:37 (BMI kg/m2 in African Americans) | 0.05* | 235 | 18-49 | both | White and African Americans | cross-sectional single center (36) |
|
ADRB3 Trp64Arg |
0.09 | non-synonymous | +0.24 (BMI kg/m2 Δ between carrier and WT) | 0.0002* | 44833 | NA | both | Overall | meta-analysis of 97 studies (26) |
| ADRB3 Trp64Arg |
0.09 | non-synonymous | +0.08 (BMI kg/m2 Δ between carrier and WT) | 0.363 | 23198 | NA | both | Caucasian | meta-analysis of 53 studies (26) |
| ADRB3 Trp64Arg |
0.09 | non-synonymous | +0.31 (BMI kg/m2 Δ between carrier and WT) | 0.001* | 16061 | NA | both | East Asian | meta-analysis of 90 studies (26) |
| ADRB3 Trp64Arg |
0.09 | non-synonymous | +0.27 (BMI kg/m2 Δ between carrier and WT) | 0.258 | 5574 | NA | both | Other | meta-analysis of 29 studies (26) |
|
UCP-3 Tyr210Tyr |
0.42 | Exon 5 | +0.29/+1.23 (BMI kg/m2 Δ of heterozygotes/homozygotes from WT) | HT 0.457 H 0.019* |
382 | 40-80 | Male | Dutch Caucasian | cross-sectional single center (32) |
| UCP-3 | 0.45 | Exon 7 | +0.38/+1.11 (BMI kg/m2 Δ of heterozygotes/ homozygotes from WT) | HT: 0.363 H: 0.033 |
382 | 40-80 | Male | Dutch Caucasian | cross-sectional single center (32) |
| UCP-2 +3474 45bp-insdel | 0.24 | 3’-UTR, exon 8 | +2/+3 (BMI kg/m2 Δ of hetero/ homozygotes from WT) | HT: NS H: 0.005 |
603 | Adult | Both (289F) | German Caucasian | cross-sectional single center (30) |
| UCP-2 - 866G>A | 0.372 | Intergenic | +0.4/+0.5 (BMI kg/m2 Δ of heterozygotes/ homozygotes from WT) | 0.036 | 737 | 7-8 | Both (347F) | Korean | cross-sectional single center (31) |
| UCP-2 -866G>A | 0.372 | Intergenic | +0.4 (BMI kg/m2 Δ from WT) | 0.22 | 732 | 20-74 | both (295F) | Korean | cross-sectional single center (31) |
| FTO | 0.44 | Intron | +0.7/+1.3 (BMI kg/m2 Δ of heterozygotes/ homozygotes from WT) | 0.013 | 947 | Adult | both | American (Utah pedigrees) | longitudinal single center study (37) |
| FTO | 0.44 | Intron | +0.08/+0.49 (BMI kg/m2 Δ of hetero-homozygotes vs. WT) | 0.003 | 2422 | 4-10 | both | Scottish Caucasian | cross-sectional single center (38) |
|
GNB3 C825T |
0.303 | synonymous | higher percentage of homozygotes with BMI>25 or >27 kg/m2 | BMI>25: 0.03 BMI>27: 0.01 |
277 | 23.9±3.4 | male | German Caucasian | multicenter study (39) |
| GNB3 C825T |
0.303 | synonymous | different genotype distributions by weight | <0.001 | 960 | 24.6±4.4 | male | Chinese | multicenter study (39) |
| GNB3 C825T |
0.303 | synonymous | different genotype distributions by weight | <0.05 | 713 | 22 mean | male | Black Africans | multicenter study (39) |
|
SLC6A4 5-HTTLPR |
0.41 | 44bp del/ins in Promoter | 1.47±1.09 vs. 0.51±1.4, (BMI SS+SL vs. LL). OR for overweight: 1.85 | SS+SL<0.002 LL <0.02 |
172 | 16±2 | both | Argentina, rural area, ? ethnicity | population-based, cross- sectional high school students (40) |
| SLC6A4 5-HTTLPR |
0.41 | 44bp deletion/insertion in promoter | different genotype distribution in different BMI groups, OR for obesity=1.36, SS vs. LL | Distribution: <0.0002* OR: 0.026* |
1329 | 34.6±0.3 | both | Argentina, factory workers, ? ethnicity | population-based crossover study (41) |
| SLC6A4 5-HTTLPR |
0.41 | 44bp deletion/insertion in promoter | Males overall: OR for overweight & obese=1.69 (SS vs. LL): White males: OR=2.01 SS vs. SL; Hispanic males: OR 1.37 SS vs. LL; NS for females | OR M: 0.04 overall M 0.01 White 0.0007 Hispanic 0.047 |
1584 | Adolescent | both | USA, Caucasian and Hispanic origin, unrelated | subset of the National Longitudinal Study of Adolescent Health (42) |
BMI=body mass index; del-ins=deletion/insertion; Δ=difference; HT=heterozygote; H=homozygous variant; M=males;OR=odds ratio; WT=“wild” type, more frequent polymorphism