A genetic association study.
The aim of this study was to determine whether variants of ABO, SOX6, and CDH13 are associated with the susceptibility of AIS in Chinese Han population.
A recent large-scale genome-wide association study reported three novel loci in CDH13, ABO, and SOX6 genes associated with adolescent idiopathic scoliosis (AIS) in Japanese population. However, the association of these three genes with AIS in other populations remains obscure.
The SNPs rs4513093, rs687621, and rs1455114 were genotyped in 1208 female patients and 2498 healthy controls. Samples for the expression analysis in paraspinal muscles were collected from 49 AIS and 33 congenital scoliosis (CS) patients during surgical interventions. Chi-square analysis was used to assess the difference regarding genotype and allele frequency between cases and controls. Tissue expressions of ABO, CDH13, and SOX6 were compared between AIS and CS patients by the Student t test.
SNPs rs4513093 of CDH13 and rs687621 of ABO were found to be significantly associated with AIS with an odds ratio of 0.8691 and 1.203, respectively. There was no significant association of rs1455114 with AIS. Moreover, AIS patients were found to have significantly increased expression of ABO. As for expression of CDH13 and SOX6, no remarkable difference was found between the two groups.
The association of CDH13 and ABO variants with AIS was successfully replicated in the Chinese Han population. More studies are warranted to explore the functional role of ABO in the development of AIS.
Level of Evidence: N/A
SNP rs4513093, rs687621, and rs1455114 were genotyped in 1208 female patients and 2498 healthy controls from Chinese population. The expression analysis was performed in 49 adolescent idiopathic scoliosis and 33 congenital scoliosis patients. rs4513093 and rs687621 were found significantly associated with AIS. Moreover, patients were found to have significantly increased expression of ABO.
Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, China.
Address correspondence and reprint requests to Leilei Xu, PhD, The Affiliated Drum Tower Hospital of Nanjing University Medical School, Zhongshan Road 321, Nanjing 210008, China; E-mail: firstname.lastname@example.org
Received 24 December, 2018
Revised 21 February, 2019
Accepted 14 March, 2019
Drs. ZW and YW contribute equally to this research.
The Natural Science Foundation of China (No.81661168013, No. 81772304, and No. 81871747) and Joint Research Scheme sponsored by the National Natural Science Foundation of China and the Research Grants Council of the Hong Kong Special Administrative Region (N_CUHK416/16) funds were received in support of this work.
The manuscript submitted does not contain information about medical device(s)/drug(s).
No relevant financial activities outside the submitted work.