title: Five known tagging DLL3 SNPs are not associated with congenital scoliosis: A case-control association study in a Chinese Han population.
abstract: Genetic etiology hypothesis is widely accepted in the development of congenital scoliosis (CS). The delta-like 3 (DLL3) gene, a member of the Notch signaling pathway, was implicated to contribute to human CS. In this study, a case-control association study was conducted to determine the association of single nucleotide polymorphism (SNP) in the DLL3 gene with CS in a Chinese Han Population. Five known tagging SNPs of the DLL3 gene were genotyped among 270 Chinese Han subjects (128 nonsyndromic CS patients and 142 matched controls). CS patients were divided into 3 types: type I-failure of formation (29 cases), type II-failure of segmentation (50 cases), and type III-mixed defects (49 cases). The 5 SNPs were analyzed by the allelic and genotypic association analysis, genotype-phenotype association analysis, and haplotype analysis. Allele frequencies of 5 tagging SNPs (SNP1: rs1110627, SNP2: rs3212276, SNP3: rs2304223, SNP4: rs2304222, and SNP5: rs2304214) in CS cases and controls were comparable and there were no available inheritance models. The SNPs were not associated with clinical phenotypes. Moreover, the 5 makers in the DLL3 gene were found to be in strong linkage disequilibrium (LD). Both global haplotype and individual haplotype analyses showed that the haplotypes of SNP1/SNP2/SNP3/SNP4/SNP5 did not correlate with the disease (P >0.05). Together, these data suggest that genetic variants of the DLL3 gene are not associated with CS in the Chinese Han population.
authors.affiliation: Department of Orthopaedics, Beijing Friendship Hospital, Capital Medical University Department of Orthopaedics, Peking Union Medical College Hospital Department of Cell Biology, Capital Medical University, Xicheng, Beijing, China.
authors.forename: Yong
authors.initials: Y
authors.lastname: Yang
authors.forename: Bing-Qiang
authors.initials: BQ
authors.lastname: Wang
authors.forename: Zhi-Hong
authors.initials: ZH
authors.lastname: Wu
authors.forename: Hai-Yan
authors.initials: HY
authors.lastname: Zhang
authors.forename: Gui-Xing
authors.initials: GX
authors.lastname: Qiu
authors.forename: Jian-Xiong
authors.initials: JX
authors.lastname: Shen
authors.forename: Jian-Guo
authors.initials: JG
authors.lastname: Zhang
authors.forename: Yu
authors.initials: Y
authors.lastname: Zhao
authors.forename: Yi-Peng
authors.initials: YP
authors.lastname: Wang
authors.forename: Qi
authors.initials: Q
authors.lastname: Fei
mesh_terms: D000293:Adolescent; D016022:Case-Control Studies; D002648:Child; D002681:China; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012600:Scoliosis / Q000235:genetics*; D016324:Sequence Tagged Sites
chemical_list: C496666:DLL3 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins