Appendix Table A1.
SNP | Chromosomal position (GRCh38.p12) | Gene: consequence | Allelesa | MAFb | MAF in controls (current study) | HWE in controls (current study) | References |
---|---|---|---|---|---|---|---|
rs4898c | chrX:47585586 | TIMP1: Synonymous Variant | T/C | 0.46 | 0.39 | 0.09 | Indelicato et al. (2006), Skarmoutsou et al. (2012) |
SYN1: Intron Variant | |||||||
MIR4769: 2KB Upstream Variant | |||||||
rs344781 | chr19:43670636 | PLAUR: 2KB Upstream Variant | A/G | 0.25 | 0.25 | 1.00 | Manetti et al. (2011) |
rs1126579 | chr2:218136011 | CXCR2: 3 Prime UTR Variant | C/T | 0.49 | 0.37 | 0.66 | Renzoni et al. (2000), Salim et al. (2012) |
rs1341239 | chr6:22303975 | PRL: 2KB Upstream Variant | G/T | 0.35 | 0.35 | 0.46 | Fojtíková et al. (2010) |
rs1799724 | chr6:31574705 | TNF: 2KB Upstream Variant | C/T | 0.09 | 0.18 | 0.79 | Sato et al. (2004), Otieno et al. (2007) |
LTA: 500B Downstream Variant | |||||||
rs1799964 | chr6:31574531 | TNF: 2KB Upstream Variant | T/C | 0.21 | 0.22 | 0.39 | Sato et al. (2004), Otieno et al. (2007) |
LTA: 500B Downstream Variant | |||||||
LOC100287329: 2KB Upstream Variant | |||||||
rs1800890 | chr1:206776020 | IL19: Intron Variant | T/A | 0.37 | 0.25 | 0.35 | Hudson et al. (2005), Peng et al. (2012b) |
rs1800896 | chr1:206773552 | IL19: Intron Variant | A/G | 0.45 | 0.38 | 0.79 | Ates et al. (2008), Salim et al. (2013) |
IL10: 2KB Upstream Variant | |||||||
rs2430561 | chr12:68158742 | IFNG: Intron Variant | T/A | 0.46 | 0.49 | 0.12 | Wastowski et al. (2009) |
rs3117230 | chr6:33107858 | HLA-DPB1: Downstream Variant | A/G | 0.23 | 0.14 | 0.55 | Zhou et al. (2009) |
rs3128930 | chr6:33107889 | HLA-DPB1: Downstream Variant | G/A | 0.26 | 0.16 | 0.12 | Zhou et al. (2009) |
rs3128965 | chr6:33088122 | HLA-DPB1: 3 Prime UTR Variant | G/A | 0.19 | 0.14 | 0.55 | Zhou et al. (2009) |
rs6918698 | chr6:131952117 | CCN2: 2KB Upstream Variant | G/C | 0.49 | 0.47 | 0.68 | Fonseca et al. (2007), Kawaguchi et al. (2009) |
rs7574865 | chr2:191099907 | STAT4: Intron Variant | G/T | 0.23 | 0.32 | 0.76 | Dieude et al. (2009), Gourh et al. (2009), Rueda et al. (2009), Tsuchiya et al. (2009), Allanore et al. (2011), Liang et al. (2012), Peng et al. (2012a), Yi et al. (2013), Zheng et al. (2013), Zochling et al. (2014), Xu et al. (2016) |
rs9399005 | chr6:131947824 | CCN2: 500B Downstream Variant | C/T | 0.30 | 0.27 | 0.80 | Granel et al. (2010) |
rs12528892 | chr6:32725729 | HLA-DQA2:Upstream variant | C/T | 0.07 | 0.02 | 0.84 | Mayes et al. (2014) |
rs131654 | chr22:21562901 | UBE2L3: Intron Variant | T/G | 0.33 | 0.24 | 0.52 | Hasebe et al. (2012) |
rs2298428 | chr22:21628603 | YDJC: Missense Variant | C/T | 0.18 | 0.27 | 0.00 | Hasebe et al. (2012) |
Major/Minor allele based on the current and published studies.
MAF of European population submitted in 1000 Genome Project (dbSNP).
Calculations for this SNP in the current study were performed using only the female patient genotypes since it is located on the X-chromosome.
HWE, Hardy–Weinberg equilibrium; MAF, minor allele frequency; SNP, single nucleotide polymorphism.