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New evidence for associations between vitamin D receptor polymorphism and obesity: case-control and family-based studies


Association between vitamin D receptor (VDR) genetic polymorphism and obesity was observed in several case-control studies. This study hypothesized that these associations could be verified in family-based study. We aimed at investigating the associations between VDR SNPs and obesity (BMI ≥ 28 kg/m2) by case-control study with 688 subjects and family-based study with 419 pedigrees. The results of case-control study suggested that rs3847987 (AC vs CC, Adjusted OR: 1.938, 95% CI: 1.359–2.763, P = 0.000405) was associated with obesity. Allele C of rs3847987 was risk factors for obesity (P = 0.006). Furthermore, association of rs3847987 with BMI was verified in family-based study (Z = 2.077, P = 0.037811). In addition, sibling with AC genotype of rs3847987 had significant higher BMI than CC genotype in the same family (P = 0.03). Therefore, it could be concluded that VDR genetic polymorphism (rs3847987) may be associated with obesity.

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This work was supported by the National Natural Science Foundation of China (Nos. 81703270, 81573151, 81573243) and the National Key Research and Development Program “Precision Medicine Initiative” of China (No. 2016YFC0900803).

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Correspondence to Wenjie Li.

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This study complied with the Declaration of Helsinki. The protocol was reviewed and approved by the Life Science Ethics Review Committee of Zhengzhou University. All the subjects signed an informed consent when they took part in this study.

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Yu, S., Li, X., Yu, F. et al. New evidence for associations between vitamin D receptor polymorphism and obesity: case-control and family-based studies. J Hum Genet 65, 281–285 (2020).

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