Screening for coding variants in FTO and SH2B1 genes in Chinese patients with obesity.
Screening for coding variants in FTO and SH2B1 genes in Chinese patients with obesity.
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中国肥胖患者 FTO 和 SH2B1 基因编码变异的筛选
DOI：
10.1371/journal.pone.0067039
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Yu Y
中科院分区：
文献类型：
--
作者：
Zheng Z;Hong L;Huang X;Yang P;Li J;Ding Y;Yao RE;Geng J;Shen Y;Shen Y;Fu Q;Yu Y
目的探讨中国肥胖儿童FTO和SH2B1基因的潜在功能变异。方法对338例中国汉族肥胖儿童和221例年龄和性别匹配的瘦子进行FTO和SH2B1外显子及其侧翼区PCR产物的Sanger测序。结果在FTO和SH2B1中分别鉴定出7个和5个罕见的非同义变异。肥胖和瘦弱儿童FTO和SH2B1罕见非同义变异的总频率相似（分别为2.37%和0.90% vs. 1.81%和1.36%,P < 0.05）。然而，FTO的七个变异中有四个是新的，并且都是肥胖儿童所特有的（p>0.05）。没有一种新的变异一直被预测为有害的。SH2B1的5个变异中有4个是新发现的，1个是肥胖儿童所特有的（p < 0.05）。一种一直被预测为有害的SH2B1基因变体（L293R）是精益控制所特有的。虽然罕见的错义突变在女孩的肥胖和瘦控制中比男孩更常见，但差异没有统计学意义。此外，FTO和SH2B1罕见错义突变的患病率在不同民族之间相似。结论FTO和SH2B1基因罕见的错义突变并不会增加中国汉族儿童肥胖的风险。
Objective To investigate potential functional variants in FTO and SH2B1 genes among Chinese children with obesity. Methods Sanger sequencing of PCR products of all FTO and SH2B1 exons and their flanking regions were performed in 338 Chinese Han children with obesity and 221 age- and sex-matched lean controls. Results A total of seven and five rare non-synonymous variants were identified in FTO and SH2B1, respectively. The overall frequencies of FTO and SH2B1 rare non-synonymous variants were similar in obese and lean children (2.37% and 0.90% vs. 1.81% and 1.36%, P>0.05). However, four out of the seven variants in FTO were novel and all were unique to obese children (p>0.05). None of the novel variants was consistently being predicted to be deleterious. Four out of five variants in SH2B1 were novel and one was unique to obese children (p>0.05). One variant (L293R) that was consistently being predicted as deleterious in SH2B1 gene was unique to lean control. While rare missense mutations were more frequently detected in girls from obesity as well as lean control than boys, the difference was not statistically significant. In addition, it's shown that the prevalence of rare missense mutations of FTO as well as SH2B1 was similar across different ethnic groups. Conclusion The rare missense mutations of FTO and SH2B1 did not confer risks of obesity in Chinese Han children in our cohort.
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影响因子：
64.8
作者：
Han, Zhifu;Niu, Tianhui;Chai, Jijie
通讯作者：
Chai, Jijie
影响因子：
30.8
作者：
通讯作者：
--
影响因子：
6.9
作者：
Deliard, Sandra;Panossian, Saarene;Mentch, Frank D.;Kim, Cecilia E.;Hou, Cuiping;Frackelton, Edward C.;Bradfield, Jonathan P.;Glessner, Joseph T.;Zhang, Haitao;Wang, Kai;Sleiman, Patrick M. A.;Chiavacci, Rosetta M.;Berkowitz, Robert I.;Hakonarson, Hakon;Zhao, Jianhua;Grant, Struan F. A.
通讯作者：
Grant, Struan F. A.
影响因子：
7.1
作者：
Bauer, Florianne;Elbers, Clara C.;van der Schouw, Yvonne T.
通讯作者：
van der Schouw, Yvonne T.
影响因子：
5.3
作者：
Duan, CJ;Yang, HY;Rui, LY
通讯作者：
Rui, LY