Table 2.
Associations of Obesity-Related Genetic Loci With Body Mass Index and Body Weight in Chinese Women, 1996–2007
| Trait and SNP | Chromosomea | Base Positiona | Nearest Gene | Effective Allele and Frequency (Proportion)b | Community Controls (n = 2,076) | Breast Cancer Cases (n = 2,069) | Type 2 Diabetes Cases (n = 885) | All Women (n = 5,030) | ||||
| Per-Allele Effectc | P Valued | Per-Allele Effect | P Value | Per-Allele Effect | P Value | Per-Allele Effect | P Value | |||||
| BMIe | ||||||||||||
| rs2815752f | 1 | 72585028 | NEGR1 | A (0.92) | 0.03 | 0.87 | 0.07 | 0.74 | 0.01 | 0.99 | 0.05 | 0.71 |
| rs10913469 | 1 | 176180142 | SEC16Bg | C (0.21) | 0.35 | 4.0 × 10−3 | 0.26 | 0.03 | 0.23 | 0.26 | 0.28 | 4.1 × 10−4 |
| rs6548238f | 2 | 624905 | TMEM18 | C (0.90) | 0.16 | 0.34 | 0.01 | 0.93 | 0.30 | 0.32 | 0.12 | 0.29 |
| rs7647305 | 3 | 187316984 | ETV5 | C (0.95) | −0.64 | 4.6 × 10−3 | 0.57 | 0.01 | 0.74 | 0.07 | 0.10 | 0.49 |
| rs10938397 | 4 | 44877284 | GNPDA2 | G (0.29) | −0.10 | 0.35 | 0.08 | 0.49 | 0.31 | 0.10 | 0.05 | 0.52 |
| rs6235 | 5 | 95754654 | PCSK1g | C (0.34) | 0.09 | 0.37 | −0.01 | 0.96 | 0.25 | 0.18 | 0.07 | 0.29 |
| rs4712652 | 6 | 22186594 | PRL | G (0.12) | 0.06 | 0.70 | −0.22 | 0.17 | −0.34 | 0.21 | −0.13 | 0.20 |
| rs2844479 | 6 | 31680935 | BAT2 | T (0.56) | 0.29 | 3.4 × 10−3 | 0.05 | 0.62 | 0.13 | 0.46 | 0.16 | 0.01 |
| rs4074134 | 11 | 27603861 | BDNF | G (0.54) | 0.13 | 0.19 | 0.18 | 0.08 | −0.16 | 0.36 | 0.10 | 0.15 |
| rs10838738 | 11 | 47619625 | MTCH2g | G (0.33) | 0.21 | 0.05 | 0.07 | 0.53 | −0.04 | 0.83 | 0.10 | 0.13 |
| rs7138803f | 12 | 48533735 | FAIM2 | A (0.28) | −0.06 | 0.57 | 0.07 | 0.53 | 0.21 | 0.28 | 0.04 | 0.60 |
| rs7498665 | 16 | 28790742 | SH2B1g | G (0.11) | 0.16 | 0.31 | 0.42 | 6.6 × 10−3 | 0.70 | 7.6 × 10−3 | 0.38 | 1.8 × 10−4 |
| rs9939609f | 16 | 52378028 | FTOg | A (0.12) | 0.27 | 0.07 | 0.22 | 0.16 | 0.62 | 0.01 | 0.32 | 4.0 × 10−3 |
| rs1424233 | 16 | 78240252 | MAF | A (0.67) | 0.01 | 0.92 | 0.05 | 0.66 | −0.18 | 0.31 | −0.02 | 0.82 |
| rs1805081 | 18 | 19394430 | NPC1g | G (0.23) | −0.18 | 0.13 | −0.19 | 0.12 | 0.18 | 0.39 | −0.12 | 0.13 |
| rs17782313f | 18 | 56002077 | MC4R | C (0.20) | 0.41 | 1.1 × 10−4 | 0.19 | 0.12 | 0.68 | 1.0 × 10−3 | 0.37 | 4.6 × 10−6 |
| rs29941 | 19 | 39001372 | KCTD15 | C (0.23) | 0.12 | 0.29 | −0.04 | 0.75 | −0.11 | 0.60 | 0.02 | 0.77 |
| Body weight | ||||||||||||
| rs2815752f | 1 | 72585028 | NEGR1 | A (0.92) | 0.08 | 0.86 | 0.23 | 0.64 | 0.00 | 1.00 | 0.15 | 0.64 |
| rs10913469 | 1 | 176180142 | SEC16Bg | C (0.21) | 0.91 | 2.6 × 10−3 | 0.64 | 0.04 | 0.60 | 0.24 | 0.71 | 3.5 × 10−4 |
| rs6548238f | 2 | 624905 | TMEM18 | C (0.90) | 0.44 | 0.28 | 0.00 | 1.00 | 0.75 | 0.32 | 0.29 | 0.29 |
| rs7647305 | 3 | 187316984 | ETV5 | C (0.95) | −1.49 | 8.0 × 10−3 | 1.50 | 8.6 × 10−3 | 1.81 | 0.07 | 0.31 | 0.41 |
| rs10938397 | 4 | 44877284 | GNPDA2 | G (0.29) | −0.25 | 0.36 | 0.17 | 0.52 | 0.77 | 0.09 | 0.11 | 0.53 |
| rs6235 | 5 | 95754654 | PCSK1g | C (0.34) | 0.21 | 0.41 | 0.03 | 0.91 | 0.65 | 0.16 | 0.20 | 0.24 |
| rs4712652 | 6 | 22186594 | PRL | G (0.12) | 0.15 | 0.70 | −0.54 | 0.17 | −0.78 | 0.24 | −0.31 | 0.22 |
| rs2844479 | 6 | 31680935 | BAT2 | T (0.56) | 0.73 | 3.2 × 10−3 | 0.10 | 0.69 | 0.35 | 0.42 | 0.40 | 0.01 |
| rs4074134 | 11 | 27603861 | BDNF | G (0.54) | 0.31 | 0.22 | 0.40 | 0.12 | −0.36 | 0.39 | 0.22 | 0.18 |
| rs10838738 | 11 | 47619625 | MTCH2g | G (0.33) | 0.51 | 0.05 | 0.15 | 0.56 | −0.05 | 0.92 | 0.26 | 0.13 |
| rs7138803f | 12 | 48533735 | FAIM2 | A (0.28) | −0.17 | 0.54 | 0.16 | 0.57 | 0.52 | 0.27 | 0.08 | 0.65 |
| rs7498665 | 16 | 28790742 | SH2B1g | G (0.11) | 0.41 | 0.29 | 1.05 | 7.0 × 10−3 | 1.75 | 6.7 × 10−3 | 0.95 | 1.7 × 10−4 |
| rs9939609f | 16 | 52378028 | FTOg | A (0.12) | 0.67 | 0.07 | 0.49 | 0.21 | 1.63 | 8.1 × 10−3 | 0.79 | 1.4 × 10−3 |
| rs1424233 | 16 | 78240252 | MAF | A (0.67) | 0.03 | 0.91 | 0.11 | 0.68 | −0.46 | 0.30 | −0.05 | 0.79 |
| rs1805081 | 18 | 19394430 | NPC1g | G (0.23) | −0.49 | 0.09 | −0.50 | 0.09 | 0.53 | 0.31 | −0.31 | 0.11 |
| rs17782313f | 18 | 56002077 | MC4R | C (0.20) | 1.05 | 5.9 × 10−4 | 0.51 | 0.09 | 1.67 | 1.1 × 10−3 | 0.94 | 2.6 × 10−6 |
| rs29941 | 19 | 39001372 | KCTD15 | C (0.23) | 0.33 | 0.26 | −0.12 | 0.69 | −0.21 | 0.68 | 0.07 | 0.71 |
Abbreviations: BAT2, HLA-B-associated transcript 2; BDNF, brain-derived neurotrophic factor; BMI, body mass index; ETV5, ets variant 5; FAIM2, Fas apoptotic inhibitory molecule 2; FTO, fat mass- and obesity-associated; GNPDA2, glucosamine-6-phosphate deaminase 2; HLA-B, human leukocyte antigen B; KCTD15, potassium channel tetramerization domain containing 15; MAF, v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian); MC4R, melanocortin 4 receptor; MTCH2, mitochondrial carrier homolog 2 (Caenorhabditis elegans); NEGR1, neuronal growth regulator 1; NPC1, Niemann-Pick disease, type C1; PCSK1, proprotein convertase subtilisin/kexin type 1; PRL, prolactin; SEC16B, SEC16 homolog B (Saccharomyces cerevisiae); SH2B1, SH2B adaptor protein 1; SNP, single nucleotide polymorphism; TMEM18, transmembrane protein 18.
Chromosome and base position were based on the March 2006 genome assembly (human genome version 18 (University of California, Santa Cruz), Build 36.1 (National Center for Biotechnology Information)).
Frequency of the BMI- or weight-increasing allele (increasing effect defined by initially reported genome-wide association studies in populations of European ancestry; effective allele defined by nucleotide on forward strand in this study) in the Chinese community controls.
Change in BMI or body weight (kg) for each copy of the effective allele.
P values were not corrected for multiple tests.
Weight (kg)/height (m)2.
This SNP was one of the 5 SNPs directly typed using Affymetrix SNP Array 6.0 (Affymetrix, Inc., Santa Clara, California). All other SNPs were imputed using MACH 1.0 (http://www.sph.umich.edu/csg/abecasis/MACH/).
The tested SNPs are located on the corresponding genes: SEC16B rs10913469 (intron), PCSK1 rs6235 (missense Ser690Thr in exon 14), MTCH2 rs10838738 (intron), SH2B1 rs7498665 (missense Ala484Thr in exon 5), FTO rs9939609 (intron), and NPC1 rs1805081 (missense His215Arg in exon 5).