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Table 2 SLC11A1 polymorphisms and comparison of MAF with other populations from HapMap and dbSNP

From: SLC11A1 polymorphisms and host susceptibility to cutaneous leishmaniasis in Pakistan

Polymorphism Region Genotype Cases (%) Controls (%) A1a A2b MAFc Caucasian Asian African
274C/T Exon 3 CC 206 (75.2) 86 (72.3) T C 0.1272 0.216 0.112 0.158
   CT 68 (24.8) 33 (27.7)       
   TT 0 0       
577–18G/A Intron 5 GG 274 (100) 119 (100) G 0.053 0.062 0.139
   GA 0 0       
   AA 0 0       
639 + 22C/T Intron 7 CC 208 (75.9) 88 (74.0) T C 0.1361 0.212 0.698 0.1195
   CT 57 (20.8) 30 (25.2)       
   TT 9 (3.3) 1 (0.8)       
825A/G Exon 9 AA 0 0 G 0.001 0.0 0.056
   AG 0 0       
   GG 274 (100) 119 (100)       
A318V Exon 9 CC 274 (100) 119 (100) C 0.0 0.0 0.0
   CT 0 0       
   TT 0 0       
V443A Exon 13 TT 262 (95.62) 110 (92.44) C T 0.027 0.005 0.0167 0.0015
   CT 12 (4.38) 9 (7.56)       
   CC 0 0       
D543N Exon 15 GG 252 (91.97) 115 (96.64) A G 0.033 0.009 0.088 0.058
   GA 22 (8.03) 4 (3.36)       
   AA 0 0       
1729 + 55del4 3′UTR TGTG (+/+) 250 (91.2) 113 (94.96) (−) (+) 0.042 0.01e 0.18e 0.31f
   TGTG (+/−)d 1 (0.36) 0       
   TGTG (−/−) 23 (8.39) 6 (5.04)       
  1. aMinor allele
  2. bMajor allele
  3. cMinor allele frequency
  4. d + = insertion of TGTG; − = deletion of TGTG
  5. eData from [19]
  6. fData from [21]