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Irritable bowel syndrome

From SNPedia

Irritable bowel syndrome(IBS) is a functional disorder that is a diagnosis of exclusion. IBS is distinct from Inflammatory bowel disease(IBD), which is considered to be an autoimmune condition. IBS is classified into subtypes: diarrhea predominant(IBS-D), constipation-predominant (IBS-C), alternating pattern (IBS-A) .

IBS has been connected to polymorphisms in the serotonin transporter gene, (SLC6A4) [PMID 24069428].

The following mutations have also been implicated in studies [PMID 24574707]:

Gene Alteration SNP Reference
HTR3A -42C > T [PMID 18614545]
HTR3B 386A > C [Gastroenterology. 2009;136 5 Suppl 1:A170.]
HTR3C 489C > A [Gastroenterology. 2009;136 5 Suppl 1:A155-156]
HTR3E rs62625044 [PMID 18614545]
α2-adrenergic receptor α2C del 322-325 [PMID 15138209]
α2A-1291C > G [PMID 15138209, PMID 20044998]
COMT α2A-1291 C > G [PMID 19833115]
Val158Met [PMID 21437260, PMID 12595695]
CNR1 (AAT)n triplet repeat [PMID 20505532]
rs806378 [PMID 22957021]
CRH-R1 rs7209436 rs242924 [PMID 21803011]
BDNF Val166Met [Gastroenterology. 2010;138 Suppl 1:348.]
OPRM1 118A > G [Gastroenterology. 2010;138 Suppl 1:348.]
IL-10 -1082 A > G [PMID 22897390, PMID 23898383, PMID 22740130]
396 T > G [PMID 22740130]
-819T > G [PMID 23595519]
TNF alpha -308G > A [PMID 22897390]
-238G > A [PMID 19844779]
GNβ3 825C > T [PMID 22855291]
TLR9+ -1237T > C [PMID 20044998]
2848 G> A [PMID 20044998]
IL1R Pst-I 1970C > T [PMID 19844779]
IL4 -590C > T [PMID 20044998, PMID 20177758]
-33T [PMID 20177758]
IL6 -174G > C [PMID 20044998, PMID 19844779]