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A genome-wide association study identifies new genes associated with developmental dysplasia of the hip 期刊论文

编号：

a91a29b3-2c3a-45f0-9c80-dda2aed2d5ca
作者：

Yan, Wenjin^[1] Hao, Zheng^[2] Tang, Shuyan^[3] Dai, Jin^[1] Zheng, Liming^[1] Yu, Pengjun^[1] Yan, Wenqiang^[1] Han, Xiao^[1] Xu, Xingquan^[1] Shi, Dongquan^[1] Ikegawa, Shiro^[4] Teng, Huajian^[5] Jiang, Qing^[1,5]
语种：

英文
期刊：

CLINICAL GENETICS ISSN：0009-9163 2019 年 95 卷 3 期 (345 - 355) ; MAR
收录：
关键词：

developmental dysplasia of the hip genome-wide association study heat shock 70 kDa protein 8 rs61930502 type II diabetes mellitus pathway
摘要：

Developmental dysplasia of the hip (DDH) is one of the most common congenital malformations and covers a spectrum of hip disorders from mild dysplasia to irreducible dislocation. The pathological mechanisms of DDH are poorly understood, which hampers the development of diagnostic tools and treatments. To gain insight into its disease mechanism, we explored the potential biological processes that underlie DDH by integrating pathway analysis tools and performing a genome-wide association study (GWAS). A total of 406 DDH-associated genes (P < 0.001) were identified by our GWAS using a Chinese Han cohort consisting of 386 DDH cases and 500 healthy controls (Set A). We verified the significant loci (P < 10(-5)) in another Chinese Han cohort consisting of 574 DDH patients and 569 healthy controls (Set B). An intronic Single Nucleotide Polymorphism (SNP) (rs61930502) showed significant association in Set A and Set B (P = 2.65 x 10(-7) and 2.0 x 10(-4), respectively). The minor allele, rs61930502-A, which tended to prevent DDH showed a dominant effect. Heat shock 70 kDa protein 8 (HSPA8) showed the most direct interactions with other proteins which were coded by DDH-associated genes in the protein-protein interaction analysis. Interestingly, Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis suggested a relation between DDH and the genes involved in type II diabetes mellitus pathway (P = 0.0067). Our genetic and protein interaction evidence could open avenues for future studies of DDH.
推荐引用方式
GB/T 7714：

Yan Wenjin,Hao Zheng,Tang Shuyan, et al. A genome-wide association study identifies new genes associated with developmental dysplasia of the hip [J].CLINICAL GENETICS,2019,95(3):345-355.
APA：

Yan Wenjin,Hao Zheng,Tang Shuyan,Dai Jin,&Jiang Qing.(2019).A genome-wide association study identifies new genes associated with developmental dysplasia of the hip .CLINICAL GENETICS,95(3):345-355.
MLA：

Yan Wenjin, et al. "A genome-wide association study identifies new genes associated with developmental dysplasia of the hip" .CLINICAL GENETICS 95,3(2019):345-355.

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