Association of ulcerative colitis with solute-linked carrier family 26
member A3 gene polymorphisms and its expression in colonic tissues
in Chinese patients
Accepted: 22 May 2018 /Published online: 31 May 2018
Springer-Verlag GmbH Germany, part of Springer Nature 2018
Purpose Abnormalities of the solute-linked carrier family 26 member A3 (SLC26A3) are implicated in the pathogenesis of
several diseases including ulcerative colitis (UC). The short communication aimed at investigating the associations of UC with
SLC26A3 (rs17154444, rs7810937, rs7785539, rs2108225 and rs6951457) polymorphisms and its expression in colonic tissues.
Methods The techniques of SNaPshot method, quantitative real-time PCR and immunohistochemical analysis were conducted.
Results and conclusion We found that the rs2108225 variation in SLC26A3 might increase the risk of UC and affect its
expression at both the mRNA and protein levels in colonic tissues of patients with UC. Moreover, the rs17154444 variation
might influence the severity of UC.
The abnormal intestinal epithelial ion transport has been
confirmed as a key factor for promoting intestinal secretion
In recent years, the coupled operation of Na
exchangers, which can affect the major route of
electrolyte absorption in the human large intestine, has re-
ceived more and more attention . The solute-linked car-
rier family 26 member A3 (SLC26A3) protein has been
reported to be predominantly expressed in the colon .
And it is mainly responsible for transporting Cl
across the apical cell membrane in exchange of HCO3
anion . The gene SLC26A3, which is mapped to chromo-
some 7q22-q31, comprises 21 exons and encodes a 764-
amino acid protein . Several single nucleotide polymor-
phisms (SNPs) have been identified to influence the expres-
sion and function of SLC26A3 at the transcriptional level. A
majority of studies to date have mainly focused on the five
common SNPs, namely rs17154444, rs7810937,
rs7785539, rs2108225 and rs6951457. The present study
aimed to ascertain whether SLC26A3 variations and its ex-
pression in colonic tissues might influence UC susceptibil-
ity in the Chinese population.
A total of 512 patients with UC and 658 healthy individuals
were collected. The genotypes of SLC26A3 were examined
by SNaPshot method as described previously . For his-
tological detection, 52 patients were selected from patients
with UC and 52 patients with benign colonic polyps were
recruited as controls. The expressions at mRNA and protein
levels of SLC26A3 were examined by quantitative real-time
PCR and immunohistochemical analysis as described pre-
viously . We presented that the frequency of allele G and
genotype GG of rs2108225 were significantly higher in pa-
tients with UC than in the controls (Table 1).ThealleleC
and genotypes (TC + CC) of rs17154444 were increased in
patients with severe UC compared to the controls. Besides,
the haplotype TAGGA formed by the five SNPs above was
more frequent in patients with UC than in the controls.
Furthermore, the quantitative real-time PCR analysis and
Xiao-xiao Shao and Dao-po Lin contributed equally to this work.
* Yi Jiang
Department of Gastroenterology, The Second Affiliated Hospital and
Yuying Children’s Hospital of Wenzhou Medical University, 109
West Xueyuan Road, Wenzhou 325000, Zhejiang Province, China
International Journal of Colorectal Disease (2018) 33:1169–1172