RGD Reference Report - Association of SLC6A4 5-HTTLPR and TRPV1 945G>C with functional dyspepsia in Korea. - Rat Genome Database

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Association of SLC6A4 5-HTTLPR and TRPV1 945G>C with functional dyspepsia in Korea.

Authors: Hwang, Sung Wook  Kim, Nayoung  Jung, Hye-Kyung  Park, Ji Hyun  Choi, Yoon Jin  Kim, Heebal  Kim, Jaemin  Kim, Joo Sung  Jung, Hyun Chae 
Citation: Hwang SW, etal., J Gastroenterol Hepatol. 2014 Oct;29(10):1770-7. doi: 10.1111/jgh.12596.
RGD ID: 36947385
Pubmed: PMID:24720453   (View Abstract at PubMed)
DOI: DOI:10.1111/jgh.12596   (Journal Full-text)


BACKGROUND AND AIM: The association of various genetic polymorphisms with functional dyspepsia (FD) has been suggested, but the results were still controversial. The aim of the present study was to assess the association of GNB3 825C>T, SLC6A4 5-HTTLPR, ADRA2A-1291C>G, CCK-1R intron 779T>C, and TRPV1 945G>C polymorphisms with FD based on Rome III criteria in Korea.
METHODS: Study subjects were prospectively recruited from visitors to Seoul National University Bundang Hospital between 2009 and 2012. One hundred and twelve FD patients and 269 controls were enrolled.
RESULTS: In SLC6A4 5-HTTLPR polymorphism, the frequency of S/S genotype was significantly lower than that of L/L + L/S genotype in FD compared to controls (P < 0.05). After stratification according to Helicobacter pylori infection, the S/S genotype was significantly associated with H. pylori-positive epigastric pain syndrome (EPS) patients (adjusted odds ratio (OR) 0.46; 95% confidence interval (CI) 0.22-0.99; P = 0.048). In TRPV1 945G>C polymorphism, the frequency of C/C genotype was lower in FD compared to controls (P = 0.057). The C carrier and C/C genotype was significantly associated with postprandial distress syndrome (PDS) and EPS, respectively (adjusted OR 0.47 and 0.43; 95% CI 0.25-0.90 and 0.20-0.93; P = 0.021 and 0.033). After stratification, the significant associations remained in H. pylori-positive PDS and EPS patients (adjusted OR 0.37 and 0.28; 95% CI 0.16-0.88 and 0.09-0.85; P = 0.024 and 0.025).
CONCLUSIONS: The genetic polymorphism of SLC6A4 5-HTTLPR and TRPV1 945G>C could be one of the pathophysiological factors of FD, especially in the case of H. pylori-positive patients in Korea.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
SLC6A4HumanDyspepsia susceptibilityIAGP DNA:haplotypes and multiple:RGD 
Slc6a4RatDyspepsia susceptibilityISOSLC6A4 (Homo sapiens)DNA:haplotypes and multiple:RGD 
Slc6a4MouseDyspepsia susceptibilityISOSLC6A4 (Homo sapiens)DNA:haplotypes and multiple:RGD 
SLC6A4HumanHelicobacter Infections  IAGP DNA:repeats:promoter:RGD 
Slc6a4RatHelicobacter Infections  ISOSLC6A4 (Homo sapiens)DNA:repeats:promoter:RGD 
Slc6a4MouseHelicobacter Infections  ISOSLC6A4 (Homo sapiens)DNA:repeats:promoter:RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
SLC6A4HumanEpigastric pain susceptibilityIAGP DNA:haplotypes and multiple:RGD 
Objects Annotated

Genes (Rattus norvegicus)
Slc6a4  (solute carrier family 6 member 4)

Genes (Mus musculus)
Slc6a4  (solute carrier family 6 (neurotransmitter transporter, serotonin), member 4)

Genes (Homo sapiens)
SLC6A4  (solute carrier family 6 member 4)


Additional Information