A genetic case–control association
The aim of this study was to investigate the association
with the susceptibility of adolescent idiopathic scoliosis
(AIS) in Chinese Han population.
Summary of Background Data.
A recent exome-wide association
study identified a missense variant rs13107325 in SLC39A8
that was associated with AIS. However, there was a lack of study validating the association
of this novel mutation with AIS in other populations.
The variant rs13107325 was genotyped in 965 AIS patients and 976 healthy controls by allelic specific multiple ligase detection reactions. Variants located in the coding region of SLC39A8
were identified by exon sequencing for 192 AIS patients and 192 controls. Paraspinal muscles from 36 AIS patients and 36 age-matched congenital scoliosis patients were collected for the gene
expression analysis. Comparison between the cases and controls was performed with the χ2
test for genotyping data or with Student t
test for gene
For the missense variant rs13107325, there was no case of mutation detected in the patients or the controls. All the subjects had homozygous genotype CC. Exon sequencing revealed that a coding variant rs11097773 of SLC39A8
had a significantly different distribution of minor allele frequency between patients and controls (7.81% vs.
= 0.002). The mRNA expression of SLC39A8
in the patients was remarkably lower than that in the controls (0.0015 ± 0.00026 vs.
0.0021 ± 0.00033, P
of previously reported novel mutation (rs13107325 in SLC39A8
) with AIS was not replicated in the Chinese population. Interestingly, a novel coding variant rs11097773 of SLC39A8
is found significantly associated with AIS. Moreover, the expression of SLC39A8
was obviously decreased in AIS patients. Further study is warranted to clarify the functional role of rs11097773 in the development of AIS.
Level of Evidence: 3