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] |
