Copy number variations of obesity relevant loci associated with body mass index in young Chinese |
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| Authors: | Chen Sun Min Cao Juan Shi Lijuan Li Lin Miao Jie Hong Bin Cui Guang Ning |
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| Affiliation: | 1. Laboratory of Endocrinology and Metabolism, Institute of Health Sciences, Shanghai Institutes for Biological Sciences (SIBS), Chinese Academy of Sciences (CAS) & Shanghai Jiao Tong University School of Medicine (SJTUSM), Shanghai, China;2. Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrinology and Metabolism, Endocrine and Metabolic E-Institutes of Shanghai Universities (EISU) and Key Laboratory for Endocrinology and Metabolism of Chinese Health Ministry, Rui-jin Hospital, Shanghai Jiao-Tong University School of Medicine, Shanghai, China |
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| Abstract: | Obesity is one of the most complex human diseases that are widely concerned and studied. More recently, copy number variations (CNVs) emerge as another important genetic marker to influence various human diseases. To elucidate the relationship between obesity and CNVs, this current study selected obesity-related candidate CNVs and analyzed their association with body mass index (BMI). Results showed that a CNV locus, 8q24.3, was significantly different (P = 0.0070) in CNV frequency between the obese and healthy controls in a young eastern Chinese cohort, while no statistical significance was observed in other seven candidate loci including well reported 10q11.22 and 16p11.2 loci. The association of 8q24.3 CNVs with BMI of the subjects only showed marginal significance, while the copy number (CN) of 5p15.33 had a significant correlation with the BMI of the subject. These results suggested that 8q24.3 CN gains was associated with obesity, and 5p15.33 might also contribute to obesity pathogenesis, highlighting the importance of these CNVs for obesity risks, as well as providing new evidence for CNVs in the pathology of common diseases. |
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| Keywords: | aCGH, Array-Based Comparative Genomic Hybridization ALT, Alanine Transaminase AST, Aspartate Transaminase BHQ, Black Hole Quencher BMI, Body Mass Index CI, Confidence Interval CN, Copy Number CNV, Copy Number Variation Cp, Crossing Point DBP, Diastolic Blood Pressure DGV, Database of Genomic Variants GGT, Gamma-Glutamyl Transpeptidase GWAS, Genome Wide Association Study HDL, High-Density Lipoprotein HEX, Hexachloro-Fluorescein LDL, Low-Density Lipoprotein MGB, Minor Groove Binder NGS, Next Generation Sequencing OR, Odds Ratio PCN, Predicted Copy Number SBP, Systolic Blood Pressure SNP, Single Nucleotide Polymorphism TC, Total Cholesterol TG, Triglyceride |
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