SNP | Chr | Position | Nearest gene | Allele | Samples | MAF achalasia | MAF HV | P_trend | P_CMH | OR | 95% CI |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2476601 | 1 | 114179091 | PTPN22 | A/G | Bel_NL_G | 0.13 | 0.10 | 3.23E-02 | 1.29 | 1.02 to 1.64 | |
Italy | 0.02 | 0.05 | 2.19E-02 | 0.4 | 0.18 to 0.89 | ||||||
Spain | 0.09 | 0.06 | 1.33E-01 | 1.4 | 0.90 to 2.18 | ||||||
Combined | 6.97E-02 | 1.2 | 0.99 to 1.47 | ||||||||
rs10494217 | 1 | 119270711 | TBX15 | T/G | Bel_NL_G | 0.14 | 0.11 | 8.87E-04 | 1.4 | 1.16 to 1.70 | |
Italy | 0.12 | 0.13 | 8.24E-01 | 0.96 | 0.63 to 1.45 | ||||||
Spain | 0.14 | 0.15 | 7.48E-01 | 0.95 | 0.68 to 1.31 | ||||||
Combined | 1.27E-02 | 1.22 | 1.04 to 1.42 | ||||||||
rs2274910 | 1 | 159118670 | ITLN1 | C/T | Bel_NL_G | 0.29 | 0.33 | 4.44E-02 | 1.18 | 1.00 to 1.40 | |
Italy | 0.29 | 0.29 | 8.93E-01 | 1.02 | 0.75 to 1.38 | ||||||
Spain | 0.27 | 0.29 | 4.79E-01 | 1.09 | 0.85 to 1.41 | ||||||
Combined | 5.25E-02 | 1.13 | 1.00 to 1.28 | ||||||||
rs1800896 | 1 | 205013520 | IL10 | G/A | Bel_NL_G | 0.51 | 0.47 | 3.37E-02 | 1.17 | 1.01 to 1.37 | |
Italy | 0.39 | 0.36 | 3.58E-01 | 1.14 | 0.86 to 1.51 | ||||||
Spain | 0.35 | 0.38 | 3.15E-01 | 0.89 | 0.70 to 1.13 | ||||||
Combined | 1.33E-01 | 1.09 | 0.97 to 1.23 | ||||||||
rs6785049 | 3 | 121016423 | NR1I2 | A/G | Bel_NL_G | 0.37 | 0.41 | 4.58E-02 | 1.17 | 1.00 to 1.37 | |
Italy | 0.45 | 0.38 | 2.18E-02 | 0.72 | 0.55 to 0.96 | ||||||
Spain | 0.43 | 0.43 | 7.75E-01 | 0.97 | 0.76 to 1.22 | ||||||
combined | 6.79E-01 | 1.02 | 0.91 to 1.15 | ||||||||
rs11707609 | 3 | 124986114 | MYLK | G/A | Bel_NL_G | 0.42 | 0.38 | 4.23E-02 | 1.16 | 0.99 to 1.35 | |
Italy | 0.39 | 0.42 | 2.96E-01 | 0.87 | 0.65 to 1.14 | ||||||
Spain | 0.41 | 0.47 | 4.70E-02 | 0.79 | 0.62 to 0.99 | ||||||
Combined | 9.97E-01 | 1 | 0.89 to 1.12 | ||||||||
rs4143832 | 5 | 131890876 | Unknown | C/A | Bel_NL_G | 0.16 | 0.20 | 1.04E-02 | 1.3 | 1.06 to 1.59 | |
Italy | 0.17 | 0.16 | 5.50E-01 | 0.89 | 0.62 to 1.29 | ||||||
Spain | 0.17 | 0.18 | 6.92E-01 | 1.06 | 0.78 to 1.44 | ||||||
Combined | 5.43E-02 | 1.16 | 1.00 to 1.35 | ||||||||
rs1800925 | 5 | 132020708 | IL13 | C/T | Bel_NL_G | 0.18 | 0.22 | 1.37E-02 | 1.26 | 1.04 to 1.53 | |
Italy | 0.20 | 0.19 | 7.49E-01 | 0.95 | 0.67 to 1.33 | ||||||
Spain | 0.17 | 0.21 | 9.92E-02 | 1.28 | 0.95 to 1.72 | ||||||
Combined | 1.20E-02 | 1.2 | 1.04 to 1.39 | ||||||||
rs2569190 | 5 | 139993100 | CD14 | A/G | Bel_NL_G | 0.49 | 0.45 | 2.56E-02 | 1.19 | 1.02 to 1.38 | |
Italy | 0.51 | 0.52 | 7.13E-01 | 0.95 | 0.72 to 1.25 | ||||||
Spain | 0.50 | 0.53 | 3.56E-01 | 0.9 | 0.71 to 1.13 | ||||||
combined | 2.85E-01 | 1.06 | 0.95 to 1.19 | ||||||||
rs12654778 | 5 | 148185934 | ADRB2 | A/G | Bel_NL_G | 0.40 | 0.36 | 3.69E-02 | 1.18 | 1.01 to 1.37 | |
Italy | 0.40 | 0.37 | 3.23E-01 | 1.15 | 0.87 to 1.53 | ||||||
Spain | 0.40 | 0.38 | 3.45E-01 | 1.12 | 0.89 to 1.42 | ||||||
Combined | 1.44E-02 | 1.16 | 1.03 to 1.30 | ||||||||
rs1799724 | 6 | 31650461 | LTA/TNFα | T/C | Bel_NL_G | 0.13 | 0.10 | 1.69E-03 | 1.46 | 1.16 to 1.85 | |
Italy | 0.18 | 0.19 | 7.52E-01 | 0.94 | 0.66 to 1.34 | ||||||
Spain | 0.15 | 0.08 | 4.38E-04 | 2.02 | 1.38 to 2.96 | ||||||
Combined | 1.17E-04 | 1.41 | 1.18 to 1.67 | ||||||||
rs3135388 | 6 | 32521029 | HLA-DRA | C/T | Bel_NL_G | 0.09 | 0.15 | 1.01E-04 | 1.63 | 1.28 to 2.07 | |
Italy | 0.04 | 0.06 | 3.33E-01 | 1.36 | 0.72 to 2.59 | ||||||
Spain | 0.06 | 0.06 | 9.16E-01 | 0.97 | 0.61 to 1.57 | ||||||
combined | 2.44E-04 | 1.46 | 1.19 to 1.78 | ||||||||
rs550014 | 6 | 154476586 | OPRM1 | A/G | Bel_NL_G | 0.22 | 0.27 | 1.95E-03 | 1.32 | 1.10 to 1.57 | |
Italy | 0.28 | 0.23 | 9.01E-02 | 0.75 | 0.55 to 1.02 | ||||||
Spain | 0.21 | 0.20 | 8.12E-01 | 0.97 | 0.73 to 1.29 | ||||||
Combined | 1.38E-01 | 1.11 | 0.97 to 1.27 | ||||||||
rs975537 | 7 | 30663882 | CRHR2 | A/T | Bel_NL_G | 0.20 | 0.24 | 1.02E-02 | 1.27 | 1.06 to 1.53 | |
Italy | 0.19 | 0.20 | 6.91E-01 | 1.07 | 0.76 to 1.52 | ||||||
Spain | 0.20 | 0.18 | 3.73E-01 | 0.88 | 0.65 to 1.18 | ||||||
Combined | 8.42E-02 | 1.13 | 0.98 to 1.31 | ||||||||
rs1468412 | 7 | 86271387 | GRM3 | A/T | Bel_NL_G | 0.25 | 0.29 | 8.22E-03 | 1.26 | 1.06 to 1.49 | |
Italy | 0.28 | 0.28 | 8.00E-01 | 1.04 | 0.77 to 1.41 | ||||||
Spain | 0.26 | 0.28 | 4.44E-01 | 1.11 | 0.86 to 1.44 | ||||||
Combined | 1.31E-02 | 1.18 | 1.03 to 1.34 | ||||||||
rs11195419 | 10 | 112829358 | ADRA2A | A/C | Bel_NL_G | 0.14 | 0.10 | 4.47E-04 | 1.51 | 1.20 to 1.91 | |
Italy | 0.13 | 0.11 | 3.86E-01 | 1.21 | 0.79 to 1.85 | ||||||
Spain | 0.11 | 0.12 | 5.52E-01 | 0.89 | 0.62 to 1.29 | ||||||
Combined | 6.43E-03 | 1.28 | 1.07 to 1.53 | ||||||||
rs929270 | 12 | 46398644 | P11 | G/A | Bel_NL_G | 0.29 | 0.26 | 4.89E-02 | 1.19 | 1.01 to 1.41 | |
Italy | 0.27 | 0.27 | 8.67E-01 | 1.03 | 0.75 to 1.40 | ||||||
Spain | 0.22 | 0.22 | 9.72E-01 | 1 | 0.75 to 1.32 | ||||||
Combined | 1.06E-01 | 1.11 | 0.98 to 1.27 | ||||||||
rs708486 | 14 | 51810721 | PTGDR | T/C | Bel_NL_G | 0.42 | 0.46 | 2.96E-02 | 1.18 | 1.02 to 1.38 | |
Italy | 0.50 | 0.48 | 5.10E-01 | 0.91 | 0.69 to 1.20 | ||||||
Spain | 0.44 | 0.45 | 7.82E-01 | 1.03 | 0.82 to 1.30 | ||||||
combined | 1.32E-01 | 1.09 | 0.97 to 1.23 | ||||||||
rs1014531 | 16 | 9763295 | GRIN2A | A/G | Bel_NL_G | 0.42 | 0.39 | 3.53E-02 | 1.18 | 1.01 to 1.37 | |
Italy | 0.37 | 0.43 | 1.13E-01 | 0.8 | 0.60 to 1.06 | ||||||
Spain | 0.43 | 0.40 | 3.16E-01 | 1.13 | 0.89 to 1.44 | ||||||
Combined | 1.47E-01 | 1.09 | 0.97 to 1.23 | ||||||||
rs1801275 | 16 | 27281901 | IL4R | A/G | Bel_NL_G | 0.18 | 0.22 | 1.59E-02 | 1.25 | 1.04 to 1.52 | |
Italy | 0.12 | 0.15 | 2.11E-01 | 1.28 | 0.85 to 1.93 | ||||||
Spain | 0.22 | 0.19 | 2.04E-01 | 0.83 | 0.63 to 1.11 | ||||||
combined | 1.08E-01 | 1.13 | 0.97 to 1.31 | ||||||||
rs2236754 | 17 | 68675676 | SSTR2 | G/A | Bel_NL_G | 0.25 | 0.21 | 1.26E-02 | 1.25 | 1.04 to 1.49 | |
Italy | NA | NA | NA | NA | NA | ||||||
Spain | 0.25 | 0.23 | 4.46E-01 | 1.11 | 0.85 to 1.45 | ||||||
Combined | 1.66E-02 | 1.20 | 1.03 to 1.40 | ||||||||
rs11078827 | 17 | 9926566 | GAS7 | C/T | Bel_NL_G | 0.52 | 0.48 | 2.95E-02 | 1.18 | 1.02 to 1.37 | |
Italy | 0.59 | 0.59 | 9.54E-01 | 1.01 | 0.76 to 1.33 | ||||||
Spain | 0.55 | 0.58 | 2.79E-01 | 0.88 | 0.70 to 1.11 | ||||||
Combined | 2.56E-01 | 1.07 | 0.95 to 1.20 | ||||||||
rs173365 | 17 | 41256855 | CRHR1 | T/C | Bel_NL_G | 0.47 | 0.43 | 4.64E-02 | 1.17 | 1.00 to 1.36 | |
Italy | 0.45 | 0.49 | 2.84E-01 | 0.86 | 0.66 to 1.13 | ||||||
Spain | 0.46 | 0.48 | 4.70E-01 | 1.09 | 0.87 to 1.38 | ||||||
Combined | 1.43E-01 | 1.09 | 0.97 to 1.22 | ||||||||
rs2292382 | 18 | 45878935 | MYO5B | G/T | Bel_NL_G | 0.11 | 0.15 | 1.08E-02 | 1.34 | 1.07 to 1.68 | |
Italy | 0.10 | 0.11 | 7.12E-01 | 1.09 | 0.69 to 1.72 | ||||||
Spain | 0.10 | 0.14 | 3.20E-02 | 1.46 | 1.03 to 2.09 | ||||||
Combined | 1.67E-03 | 1.33 | 1.11 to 1.58 |
Shown from left to right are: National Center for Biotechnology Information (NCBI) dbSNP database accession numbers (SNP), chromosome and chromosomal position (Chr, Position), nearest gene (Gene), two nucleotides of the SNP, first allele is the risk allele (Allele), frequency of the minor allele in patients (MAF achalasia) and HVs (MAF HV) (MA of Bel_NL_G cohort taken as MA in Italian and Spanish cohorts), Armitage's trend test (P_trend), Cochran–Mantel–Haenszel meta-analysis (P_CMH), allelic OR and lower and upper bound of the corresponding 95% CI.
HLA, human leucocyte antigens; HV, healthy volunteer; LTA, lymphotoxin-α; MAF, minor allele frequency; SNP, single nucleotide polymorphism; TNFα, tumour necrosis factor-α.