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. 2020 May 7;24(5):309–317. doi: 10.1089/gtmb.2019.0255

Appendix Table A1.

Details of Single Nucleotide Polymorphisms Selected for This Study

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)
a

Major/Minor allele based on the current and published studies.

b

MAF of European population submitted in 1000 Genome Project (dbSNP).

c

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.