Assessment of Three New Loci from Genome-wide Association Study in Essential Tremor in Chinese population.
Assessment of Three New Loci from Genome-wide Association Study in Essential Tremor in Chinese population.
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中国人群特发性震颤全基因组关联研究中三个新位点的评估
DOI：
10.1038/s41598-017-08863-5
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发表时间：
2017-08-11
影响因子：
4.6
通讯作者：
Sun Q
中科院分区：
文献类型：
--
作者：
Zhang Y;Zhao Y;Zhou X;Li K;Yi M;Guo J;Yan X;Tang B;Sun Q
特发性震颤（ET）是最常见的震颤障碍。有证据表明，遗传学在病因学研究中起着至关重要的作用。一项新的欧洲人群全基因组关联研究（GWAS）发现了3个ET新位点，分别为STK 32 B中的rs 10937625、PPARGC 1A中的rs 17590046和CTNNA 3中的rs 12764057、rs 10822974和rs7903491。由于不同人群的遗传背景不同，我们在中国人群中对533例受试者进行了病例对照研究。rs 10937625基因型和等位基因频率在ET组和对照组中的分布差异有统计学意义（基因型= 0.037，OR = 0.69[0.48-0.98];等位基因= 0.033，OR = 0.82[0.69-0.99]）和rs7903491（基因型= 0.030，OR = 1.34[1.03-1.74];等位基因= 0.029，OR = 1.16[1.02-1.32]）。rs 17590046（基因型= 0.794;等位基因= 0.791）、rs 12764057（基因型= 0.337;等位基因= 0.337）、rs 10822974（基因型= 0.102;等位基因= 0.100）与ET无关联。本研究支持STK 32 B基因rs 10937625的C等位基因是中国人群ET的保护性因素，CTNNA 3基因rs7903491的G等位基因是中国人群ET的危险性因素。
Essential tremor (ET) is the most common tremor disorder. Evidences indicated that genetics plays an essential role in the researches of etiology. A new genome-wide association study (GWAS) from European population identified three novel loci in ET, which were rs10937625 inSTK32B, rs17590046 inPPARGC1A, and rs12764057, rs10822974 and rs7903491 inCTNNA3. Due to the different genetic background in different population, we performed a case-control study to investigate these variants in a cohort of 533 subjects in Chinese population. We found a significant difference in the distributions of genotypes and alleles frequencies between ET and control groups of rs10937625 (genotypep= 0.037, OR = 0.69[0.48–0.98]; allelep= 0.033, OR = 0.82[0.69–0.99]) and rs7903491 (genotypep= 0.030, OR = 1.34[1.03–1.74]; allelep= 0.029, OR = 1.16[1.02–1.32]) after adjusted for age and gender. And no associations were detected between rs17590046 (genotypep= 0.794; allelep= 0.791), rs12764057 (genotypep= 0.337; allelep= 0.337), rs10822974 (genotypep= 0.102; allelep= 0.100) and ET in Chinese population individually. Our research supports that C allele of rs10937625 inSTK32Bis a protective factor and G allele of rs7903491 inCTNNA3is a risk factor for ET in Chinese population.
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影响因子：
4.2
作者：
Ross JP;Rayaprolu S;Bernales CQ;Soto-Ortolaza AI;van Gerpen J;Uitti RJ;Wszolek ZK;Rajput A;Rajput AH;Rajput ML;Ross OA;Vilariño-Güell C
通讯作者：
Vilariño-Güell C
DOI：
10.1007/s12311-016-0826-5
发表时间：
2017-04
期刊：
Cerebellum (London, England)
影响因子：
--
作者：
Kuo SH;Wang J;Tate WJ;Pan MK;Kelly GC;Gutierrez J;Cortes EP;Vonsattel JG;Louis ED;Faust PL
通讯作者：
Faust PL
影响因子：
30.8
作者：
Stefansson H;Steinberg S;Petursson H;Gustafsson O;Gudjonsdottir IH;Jonsdottir GA;Palsson ST;Jonsson T;Saemundsdottir J;Bjornsdottir G;Böttcher Y;Thorlacius T;Haubenberger D;Zimprich A;Auff E;Hotzy C;Testa CM;Miyatake LA;Rosen AR;Kristleifsson K;Rye D;Asmus F;Schöls L;Dichgans M;Jakobsson F;Benedikz J;Thorsteinsdottir U;Gulcher J;Kong A;Stefansson K
通讯作者：
Stefansson K
影响因子：
4.1
作者：
Tio, Murni;Tan, Eng-King
通讯作者：
Tan, Eng-King
DOI：
10.1073/pnas.1419581111
发表时间：
2014-12-23
影响因子：
11.1
作者：
Gulsuner, Hilal Unal;Gulsuner, Suleyman;Tekinay, Ayse B.
通讯作者：
Tekinay, Ayse B.