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. 2018 Jun 21;13(6):e0198625. doi: 10.1371/journal.pone.0198625

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.