Association of polymorphic variants in serotonin re-uptake transporter gene with Crohn's disease: a retrospective case-control study

Scientific paper - Case study

• Author: Katja Grubelic Ravić
• Author: Frane Paić
• Author: Boris Vucelić
• Author: Marko Brinar
• Author: Silvija Čuković-Čavka
• Author: Nada Božina
• Author: Željko Krznarić
• Author: Mirjana Kalauz
• Author: Dino Bešić
• Author: Tamara Nikuševa Martić
• Author's institution: University of Zagreb; School of Medicine
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences

Abstract (english)

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 sex-adjusted 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 (english): Adult; Alleles; Case-Control Studies; Crohn Disease/genetics; Female; Gene Frequency; Genotyping Techniques; Humans; Introns/genetics; Male; Middle Aged; Minisatellite Repeats/genetics; Odds Ratio; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; Retrospective Studies; Serotonin Plasma Membrane Transport Proteins/genetics
• Language: english
• Publication type: Scientific paper - Case study
• Publication status: Published
• Peer review: Peer review
• Publication version: Published version
• Journal title: Croatian Medical Journal
• Numbering: vol. 59, no. 5, pp. 232-243
• p-ISSN: 0353-9504
• DOI: https://doi.org/doi:10.3325/cmj.2018.59.232
• URN:NBN: urn:nbn:hr:105:059274
• Publication: 2018-10-31
• Document URL: http://doi.org/10.3325/cmj.2018.59.232
• Type of resource: Text
• Access conditions: Open access
• Created on: 2024-03-28 09:50:20