Polymorphisms in the SERT gene genotyped on the diarrhoea predominant irritable bowel syndrome case/control samples
| Single nucleotide polymorphisms | |||||||
|---|---|---|---|---|---|---|---|
| Polymorphism | Ref SNP in dbSNP | GenBank Acc No | Sequence position | Location | Allele 1 | Allele 2 | Minor allele frequency* |
| 5HTT-T623C | ss5607073 | X76753 | bp 623 | 5′ end genomic | T | C | C (3.1%) |
| 5HTT-T3287C | rs25533 | X76753 | bp 3287 | 5′UTR | T | C | C (7.3%) |
| 5HTT-G674A | ss5607074 | U79746 | bp 674 | Intron 1a | G | A | A (9.4%) |
| 5HTT-C867T | rs2066713 | U79746 | bp 867 | Intron 1a | C | T | T (37.6%) |
| 5HTT-A2631C | SLC6A4U3, rs6354 | U79746 | bp 2631 | Exon 1b non-coding | A | C | C (17.4%) |
| 5HTT-G160A | rs140701 | X76758 | bp 160 | Intron 8 | G | A | A (45.8%) |
| 5HTT-G769T | rs1042173 | X76762 | bp 769 | 3′ UTR | G | T | G (48.6%) |
| Other polymorphisms | |||||||
|---|---|---|---|---|---|---|---|
| Polymorphism | Reference | GenBank Acc No | Sequence position | Location | Alleles | Allele frequencies* | |
| 5-HTT, 5-hydroxtryptamine transporter ( = SERT); bp, base pair; del, deletion; ins, insertion; SNP, single nucleotide polymorphism; VNTR, variable number of tandem repeats; s, short; l, long. | |||||||
| *Based on 448 control samples. | |||||||
| 5HTT-VNTR | 21 | X76754 | bp 843–1012 (n = 10 rep.) | Intron 2 | n = 9, 10, 11, 12 repeats | 9 = 1.0%; 10 = 36.9%; 11 = 0%; 12 = 62.1% | |
| SERT-P | 17 | X76753 | bp 1826–1869 (ins) | 5′ end genomic | del (s)/ins (l) | s = 42.8%; l = 57.1% | |