Table 1 -. General information on SNPs and haplotypes of TLR4, CARD14 and PSORS1C3 genes in psoriatic patients and controls.
SNP/Gene | Position | Type of Variant | Allele | MAF in psoriasis group | MAF in control group | 1000G MAF | HWE in Psoriasis Group (p) | HWE in Control Group (p) | HWE in all Population (p) |
---|---|---|---|---|---|---|---|---|---|
PSORS1C3/rs887464 | 6:31178143 | 5′ Flanking | G>A | 0.4014 | 0.3043 | 0.3722 | 0.0053 | 0.2895 | 0.1897 |
PSORS1C3/rs3868542 | 6:31178062 | 5′ Flanking | A>G | 0.3803 | 0.3696 | 0.41154 | 0.3880 | 0.9841 | 0.6268 |
PSORS1C3/rs11507945 | 6:31177978 | 5′ Flanking | C>T | 0.3239 | 0.2500 | 0.21705 | 0.9567 | 0.0777 | 0.6270 |
PSORS1C3/rs3871247 | 6:31177925 | 5′ Flanking | C>T | 0.3873 | 0.3370 | 0.41154 | 0.5017 | 0.3410 | 0.9970 |
PSORS1C3/rs369029873 | 6:31177834 | 5′ Flanking, exon 1 | G>A | 0.1690 | 0.2065 | 0.00002 | 0.2303 | 0.2105 | 0.0516 |
PSORS1C3/rs3130506 | 6:31177674 | 5′ Flanking, exon 1 | C>T | 0.6761 | 0.7065 | 0.31310 | 0.9706 | 0.3779 | 0.5895 |
PSORS1C3/rs3871246 | 6:31177654 | 5′ Flanking, exon 1 | A>G | 0.3592 | 0.3370 | 0.41034 | 0.3418 | 0.3410 | 0.9675 |
PSORS1C3/rs11967629 | 6:31177636 | Splice region variant | G>A | 0.3099 | 0.2500 | 0.21685 | 0.8061 | 0.0777 | 0.7716 |
PSORS1C3/+280 | 6:31177647 | Intron | G>A | 0.1620 | 0.0652 | 0.2655 | 0.8941 | 0.3101 | |
CARD14/rs11653893 | 17:80205031 | Intron | A>G | 0.5000 | 0.5000 | 0.35863 | 0.2051 | 0.3372 | 0.8987 |
CARD14/rs189286068 | 17:80205039 | Synonymous | C>T | 0.0282 | 0.0326 | 0.00279 | 0.9706 | 0.9742 | 0.9459 |
CARD14/c.3150 p.T812A/S | 17:80205070 | Missense | A>G/T | 0.0211 | 0.0213 | 0.9927 | 0.9972 | 0.9892 | |
CARD14/rs11652075 | 17:80205094 | Missense | C>T | 0.5845 | 0.5000 | 0.35304 | 0.5550 | 0.3372 | 0.5725 |
CARD14/rs61757652 | 17:80205117 | Synonymous | C>T | 0.1197 | 0.1739 | 0.10004 | 1.3132 | 0.3608 | 0.2066 |
CARD14/rs1486223942 | 17:80205169 | synonymous | C>T | 0.0141 | 0.0000 | 0.00001 | 0.9928 | N/A | 0.9957 |
CARD14/c.3285+54 | 17:80205259 | Intron | C>G | 0.0211 | 0.0000 | 0.9836 | N/A | 0.9902 | |
CARD14/rs376428578 | 17:80205308 | Intron | C>A | 0.1901 | 0.3696 | 0.00006 | 0.1299 | 0.0004 | 0.0007 |
TLR4/rs2149356 | 9:117711921 | Intron | T>G | 0.7210 | 0.6850 | 0.47883 | 0,9928 | 0,5624 | 0.6785 |
TLR4/c.331-428 | 9:117711961 | Intron | T>G | 0.1360 | 0.1520 | 0.4219 | 0.4767 | 0.2029 | |
TLR4/c.331-200 | 9:117712189 | Intron | G>A | 0.0143 | 0.0109 | 0.9927 | 0.9972 | 0.9901 | |
TLR4/c.331-102 | 9:117712277 | Intron | T>A | 0.0357 | 0.0109 | 0.9531 | 0.9972 | 0.9599 | |
TLR4/c.331-1 | 9:117712388 | Intron | G>C | 0.0143 | 0.0109 | 0.9927 | 0.9972 | 0.9901 | |
TLR4/rs770576183 | 9:117712401 | Missense | G>C | 0.0210 | 0.0000 | 0.00001 | 0.0000 | N/A | 0.0000 |
TLR4/rs1018673641 | 9:117712426 | Missense | A>T | 0.0790 | 0.0330 | 0.7753 | 0.9742 | 0.7873 | |
TLR4/c.371 p.L101 L | 9:117712429 | Synonymous | C>T | 0.1571 | 0.0978 | 0,07831 | 0,2105 | 0,01651 | |
TLR4/c.376 p.S102S | 9:117712434 | Synonymous | C>T | 0.1214 | 0.0217 | 0.5124 | 0.9887 | 0.6333 |
Position refers to the GRCh38.p10 assembly; MAF: Minor allele frequency; HWE: Hardy-Weinberg equilibrium was checked by Chi-squared test; N/A: Not available; 1000G MAF: MAF data from 1000 genomes project.