Table 4

The CRPS-1 combined cohorts SNP allele results analysed by sex

CRPS-1 cohort by sexGeneANO10P2RX7PRKAG1SLC12A9Individual with any SNP rare allele
SNPrs41289586rs28360457rs1126930rs80308281
AllelesArg234HisArg307GlnThr89SerIle350Thr
Female heterozygotes7/703/703/702/7017/70*
Female homozygotes0/700/703/700/70
Male heterozygotes4/142/142/143/148/14
Total11/845/8411/845/8425/84†
  • For each SNP, the number of females and males that were a heterozygote is given; for ANO10, P2RX7 and SLC12A9, there were no homozygotes. For PRKAG1 alone, three study individuals were homozygotes, and all three were female. For each SNP column, the bottom row shows the total number of individuals who were heterozygous or homozygous for the rare allele. The final column shows the number of females and then males who were heterozygous or homozygous for the rare allele, as well as the total for the combined CRPS-1 cohorts.

  • *‘Any SNP rare allele’ total for females includes both heterozygous and homozygous results.

  • †Three individuals had two rare allele SNPs, and one had three. So, in total, 25 individuals were heterozygous or homozygous for one or more rare SNP alleles.

  • CRPS-1, complex regional pain syndrome type 1.