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Obesity (Silver Spring). 2017 Apr;25(4):757-764. doi: 10.1002/oby.21775. Epub 2017 Feb 22.

Genomic variants at 20p11 associated with body fat mass in the European population.

Pei YF#1,2, Ren HG#3, Liu L2,4, Li X2,4, Fang C5, Huang Y5, Hu WZ2,4, Kong WW2,4, Feng AP2,4, You XY2,4, Zhao W2,4, Shen H6, Tian Q6, Zhang YH1,2, Deng HW6, Zhang L2,4.

Author information

Department of Epidemiology and Health Statistics, School of Public Health, Medical College, Soochow University, Suzhou, PR China.
Jiangsu Key Laboratory of Preventive and Translational Medicine for Geriatric Diseases, Soochow University, Suzhou, PR China.
Laboratory of Molecular Neuropathology, Department of Pharmacology, School of Pharmaceutical Sciences, Medical College, Soochow University, Suzhou, PR China.
Center for Genetic Epidemiology and Genomics, School of Public Health, Medical College, Soochow University, Suzhou, PR China.
Department of Endocrinology, The Second Affiliated Hospital, Soochow University, Suzhou, PR China.
Department of Biostatistics and Bioinformatics, School of Public Health and Tropical Medicine, Tulane University, New Orleans, Louisiana, USA.
Contributed equally



Body fat mass (BFM) is more homogeneous and accurate than body total mass in measuring obesity but has rarely been studied. Aiming to uncover the genetic basis of fat-induced obesity, a genome-wide association meta-analysis of BFM, after adjustment by body lean mass, was performed in the European population.


Three samples of European ancestry were included in the meta-analysis: the Framingham Heart Study (N = 6,004), the Kansas City osteoporosis study (N = 2,207), and the Omaha osteoporosis study (N = 968).


At the genome-wide significance level (α = 5.0×10-8 ), a cluster of 10 single-nucleotide polymorphisms (SNPs) at chromosomal region 20p11 that were associated with BFM (lead SNP rs2069126, P = 1.82×10-9 , closest gene SLC24A3) was identified in 9,179 subjects. One of the top SNPs, rs6046308 (P = 3.74×10-8 ), was found to be nominally significant for body fat percentage in another independent study (P = 0.03, N = 75,888) and was reported to transregulate the expression of the MPZ gene at 1q23.3 (unadjusted P = 9.78×10-6 , N = 1,490). Differential gene expression analysis demonstrated that SLC24A3 and CFAP61 at the identified locus were differentially expressed in tissues of people with versus without obesity (P = 3.40×10-5 and 8.72×10-4 , N = 126 and 70), implying their potential role in fat development.


These results may provide new insights into the biological mechanism that underlies fat-induced obesity pathology.

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