Table 1. SNPs of immune related genes in chromosome 17 from FM cohorts and transmission analysis from FM trios1,2,3.
FM Patients | ||||||||
---|---|---|---|---|---|---|---|---|
Gene | AA Change | AA Pos | Ref Allele | Hetero | Homo | Var Allele | MAF | ExAc Freq |
CCL11 | Ala>Thr | 23 | 65 | 29 | 6 | 41 | 20.50% | 18.32% |
CCL8 | Lys>Gln | 69 | 76 | 22 | 2 | 26 | 13.00% | 15.51% |
CCL23 | Val>Met | 123 | 4 | 26 | 70 | 166 | 83.00% | 81.03% |
CCL4 | Ser>Thr | 80 | 53 | 41 | 6 | 53 | 26.50% | 23.22% |
Ref Allele | Hetero | Homo | Var allele | MAF | ExAC Freq | |||
CCL11 | Ala>Thr | 23 | 139 | 72 | 9 | 90 | 20.45% | 18.32% |
CCL8 | Lys>Gln | 69 | 86 | 30 | 4 | 38 | 15.83% | 15.31% |
CCL23 | Met>Val | 123 | 80 | 33 | 7 | 47 | 19.58% | 18.97% |
CCL4 | Ser>Thr | 80 | 129 | 88 | 9 | 105 | 24.09% | 23.22% |
Transmitted | Not Transmitted | P value | ||||||
CCL11 | Ala>Thr | 23 | 81 | 52 | 0.0074 | |||
CCL8 | Lys>Gln | 69 | 33 | 37 | NS | |||
CCL23 | Met>Val | 123 | 42 | 36 | NS | |||
CCL4 | Ser>Thr | 80 | 80 | 77 | NS |
1 Upper: raw Illumina sequencing data of 100 FM patients taken from S1 Table. MAF = minor allele frequency. Note: for CCL23 in the ExAc dbase Val>Met is reported as the MAF (bold type), but should be Met>Val. This discrepancy is corrected in the validation section (Middle). NS, not significant.
2 Middle: validated data by direct sequencing of 220 FM samples for CCL11 and CCL4, and 120 FM samples for CCL8 and CCL23. The corrected minor allele for CCL11 (Val) and the MAF are shown in bold.
3 Lower: transmission analysis includes 220 trios for CCL11 and CCL4, and 120 trios for CCL8 and CCL23. P-values are one-sided on the presumption that the variant allele confers higher risk of FM.