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Croatian Medical Journal, Vol. 59 No. 5, 2018.

Original scientific paper

https://doi.org/10.3325/cmj.2018.59.232

Association of polymorphic variants in serotonin re-uptake transporter gene with Crohn’s disease: a retrospective casecontrol study

Katja Grubelic Ravić ; Department of Gastroenterology University Hospital Center Zagreb, Zagreb, Croatia
Frane Paić ; Laboratory for Epigenetic and Molecular Medicine, Departmentof Biology and Medical Genetics, Zagreb University School of Medicine, Zagreb, Croatia
Boris Vucelić ; Department of Gastroenterology University Hospital Center Zagreb, Zagreb, Croatia
Marko Brinar ; Department of Gastroenterology University Hospital Center Zagreb, Zagreb, Croatia
Silvija Čuković Čavka ; Department of Gastroenterology University Hospital Center Zagreb, Zagreb, Croatia
Nada Božina ; Clinical Institute of Laboratory Diagnoses, University Hospital Center Zagreb, Zagreb, Croatia
Željko Krznarić ; Department of Gastroenterology University Hospital Center Zagreb, Zagreb, Croatia
Mirjana Kalauz ; Department of Gastroenterology University Hospital Center Zagreb, Zagreb, Croatia
Dino Bešić ; Laboratory for Epigenetic and Molecular Medicine, Departmentof Biology and Medical Genetics, Zagreb University School of Medicine, Zagreb, Croatia
Tamara Nikuševa Martić ; Laboratory for Epigenetic and Molecular Medicine, Departmentof Biology and Medical Genetics, Zagreb University School of Medicine, Zagreb, Croatia

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Abstract

Aim To analyze the distribution of SLC6A4 gene polymorphisms
in Crohn’s disease (CD) patients and their association
with the disease.
Methods We evaluated the presence/absence of promoter
(5-HTTLPR, rs25531) and intron 2 (STin2 VNTR) polymorphic
variants of SLC6A4 gene in a retrospective case-control
study including 192 CD patients and 157 healthy controls
(HC). Genotyping was performed by polymerase chain reaction.
The association of polymorphisms with CD and its
clinical subtypes was analyzed using χ2 and Fisher exact
test, binary logistic regression, and haplotype analysis.Results CD patients and healthy controls had similar sex
(88 [45.8%] vs 84 [53.5%] women, respectively; P = 0.154)
and age (41.3 ± 12.8 years vs 41.7 ± 8.8 years, respectively,
P = 0.091) distribution. Significant differences were observed
in the STin2 genotype and allele distribution between
CD patients and healthy controls (P = 0.003 and
P = 0.002, respectively) and between the corresponding female
subgroups (P = 0.004 and P = 0.007, respectively), with
a significant negative association of biallelic ss (STin2.9 and
Stin2.10) STin2 genotype with CD (P = 0.013, age- and sexadjusted
odds ratio [OR] 0.5, 95% confidence interval [CI]
0.29-0.86; women: P = 0.006, age-adjusted OR 0.32, 95%
CI 0.14-0.72) and a significantly higher S-STin2.12 (5-HTTLPR/
rs25531: S-STin2: STin2.12) haplotype distribution in CD
patients (P = 0.004, OR 1.62, 95% CI 1.16-2.26). There was
no significant association between 5-HTTLRP and rs25531
genotype or allele frequencies and CD and between any
SLC6A4 polymorphic loci with clinical CD subtypes.
Conclusion STin2 VNTR polymorphism of SLC6A4 gene
may contribute to CD pathogenesis.

Keywords

Hrčak ID:

239185

URI

https://hrcak.srce.hr/239185

Publication date:

16.10.2018.

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