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      Association between S1K3 SNP rs12225230 with obese phenotype in children

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          Objective To assess the associations between the single-nucleotide polymorphism (SNP) rs12225230 of salt inducible kinase 3 ( SIK3) and obesity/central obesity in children, and to provide evidence for screening intervention for obesity in children and adolescents.

          Methods A cluster sampling of 2 030 children aged 7–18 years in Beijing were enrolled and height, weight and waist circuinference were measured according to the manufacturer. The genotype frequency of SNP rs12225230 was detected by matrix-assisted laser analysis/ionization time-of-flight mass spectrometry (MALDI-TOF MS). Logistic regression and multiple linear regression were applied to analyze the associations between SNP rs12225230 and overweight/obesity and central obesity. Polyphen2 database was used to predict the effect of SNP rs12225230 on the protein function of SIK3. GTEx database was used to explore expression quantitative trait loci (eQTL) of SNP rs12225230.

          Results C allele of SNP rs12225230 was a risk allele for obesity and severe obesity in children ( OR obesity=1.50, 95% CI = 1.10–2.04, P = 0.01; OR severe obesity = 1.72, 95% CI = 1.23–2.39, P<0.01). The SNP rs12225230 was positively associated with waist circuinference and waist height ratio (β waist circumference = 1.40, 95% CI = 0.28–2.52, P =0.01; β waist height ratio = 0.01, 95% CI = 0.00–0.02, P =0.01). C allele of SNP rs12225230 may be harmful to the function of the protein encoded by the SIK3, and was positively related to the expression of the APOA1 in the heart tissue.

          Conclusion SNP rs12225230 is associated with obesity and central obesity in children, and SNP rs12225230 may affect the expression of the APOA1 in children, but its association with lipid metabolism needs to be verified.


          【摘要】 目的 探讨盐诱导激酶 3 ( SIK3) 基因单核苷酸多态性 rs12225230 与儿童青少年肥胖相关表型的关联, 为儿童青 少年肥胖的筛査干预提供证据。 方法 整群抽取北京市 2 030 名 7~18 岁儿童青少年为研究对象, 进行身体测量及超重肥 胖分组。利用基质辅助激光解析/电离飞行时间质谱 (MALDI-TOF MS) 检测单核苷酸多态性 rs12225230 基因型频率。分 别采用 Logistic 回归和多元线性回归分析单核苷酸多态性 rs12225230 与肥胖、中心性肥胖相关表型的关联。使用 Polyphen2 数据库分析单核苷酸多态性 rs12225230 对 SIK3 基因蛋白质功能的影响;使用 GTEx 数据库探索与单核苷酸多态性 rs12225230 相关联的组织特异性基因表达。 结果 单核苷酸多态性 rs12225230 C 等位基因是儿童青少年肥胖、重度肥胖 发生的危险因素 ( OR 肥胖 = 1.50, 95% CI =1.10~2.04, P = 0.01; OR 重度肥胖=1.72, 95% CI =1.23~2.39, P<0.01)。单核苷酸多态 性 rs12225230 C 等位基因与腰围、腰髙比存在正相关 (β 腰围= 1.40, 95% CI = 0.28~2.52, P=0.01; β 腰高比=0.01, 95% CI =0.00~0.02, P=0.01); 单核苷酸多态性 rs12225230 C 等位基因对 SIK3 基因编码的蛋白质可能存在功能损害, 且与心脏组织中 APOA1 基因表达升髙相关。 结论 SIK3 基因单核苷酸多态性 rs12225230 与儿童青少年肥胖、中心性肥胖相关, 且与 APOA1 表达相关, 但与脂代谢之间的关联尚需进一步论证。

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          Author and article information

          Chinese Journal of School Health
          Chinese Journal of School Health (China )
          01 November 2022
          01 November 2022
          : 43
          : 11
          : 1634-1637
          [1] 1Department of Maternal and Child Health, School of Public Health, Peking University, Beijing (100191), China
          Author notes
          *Corresponding author: WANG Hui, E-mail: huiwang@ 123456bjmu.edu.cn
          © 2022 Chinese Journal of School Health

          This is an open-access article distributed under the terms of the Creative Commons Attribution 4.0 Unported License (CC BY-NC 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. See https://creativecommons.org/licenses/by-nc/4.0/.

          Self URI (journal-page): http://www.cjsh.org.cn
          Journal Article

          Ophthalmology & Optometry,Pediatrics,Nutrition & Dietetics,Clinical Psychology & Psychiatry,Public health
          Child,Genes,Regression analysis,Obesity


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