Research Article
SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies
Table 3
Allelic frequencies and genotypes of common SIAE variants in JIA patients and controls.
| | | | Autoimmune JIA | sJIA | Controls | Europeans (NCBI) | | Total | oJIA | pJIA | | Number | Location | DNA numbering | cDNA numbering | Amino acid substitution | rs | Allele frequency | Genotypesa | Allele frequency | Genotypesa | Allele frequency | Genotypesa | Allele frequency | Genotypesa | Allele frequency | Allele frequency |
| | 1 | 5′ UTR | g.7560T>G | c.-36T>G | | rs555947628 | 0.009 | 0/1/46 | 0.011 | 0/0/11 | 0.000 | 0/0/11 | 0.000 | 0/0/117 | 0.000 | N/A | | 2 | 5′ UTR | g.7585T>A | c.-11T>A | | rs202021641 | 0.000 | 0/0/47 | 0.000 | 0/0/11 | 0.000 | 0/1/10 | 0.045 | N/A | N/A | 0.002 | | 3 | Exon 2 | g.11927A>G | c.212A>G | K71R | rs12282107 | 0.000 | 0/0/47 | 0.000 | 0/0/11 | 0.000 | 0/1/10 | 0.045 | N/A | N/A | 0.007 | | 4 | Intron 2 | g.11964G>A | c.229+20G>A | | rs512225 | 0.233 | 3/18/26 | 0.255 | 0/3/8 | 0.136 | 0/5/6 | 0.227 | N/A | N/A | 0.251 | | 5 | Exon 3 | g.20536A>G | c.265A>G | M89V | rs78778622 | 0.026 | 0/3/44 | 0.032 | 0/0/11 | 0.000 | 0/0/11 | 0.000 | N/A | N/A | 0.051 | | 6 | Exon 4 | g.26573T>C | c.468T>C | S156S | rs1942663 | 0.017 | 0/1/46 | 0.011 | 0/1/10 | 0.045 | 0/1/10 | 0.045 | N/A | N/A | 0.024 | | 7 | Intron 5 | g.31722C>T | c.722+37C>T | | rs79300393 | 0.009 | 0/1/46 | 0.011 | 0/0/11 | 0.000 | 0/0/11 | 0.000 | N/A | N/A | 0.023 | | 8 | Intron 5 | g.31750C>T | c.722+65C>T | | rs149793694 | 0.009 | 0/1/46 | 0.011 | 0/0/11 | 0.000 | 0/0/11 | 0.000 | N/A | N/A | N/A | | 9 | Intron 7 | g.33978C>T | c.966+39C>T | | rs142737112 | 0.009 | 0/1/46 | 0.011 | 0/0/11 | 0.000 | 0/0/11 | 0.000 | N/A | N/A | 0.005 | | 10 | Exon 8 | g.41490T>C | c.1020T>C | R340R | rs35451312 | 0.000 | 0/0/47 | 0.000 | 0/0/11 | 0.000 | 0/1/10 | 0.045 | N/A | N/A | 0.007 | | 11 | Intron 8 | g.41675A>G | c.1124+81A>G | | rs620499 | 0.069 | 0/8/39 | 0.085 | 0/0/11 | 0.000 | 0/1/10 | 0.045 | N/A | N/A | N/A | | 12 | Intron 8 | g.42499C>T | c.1125-68C>T | | rs77343428 | 0.017 | 0/1/46 | 0.011 | 0/1/10 | 0.045 | 0/1/10 | 0.045 | 0/4/103 | 0.023 | Ν/Α | | 13 | Intron 8 | g.42501T>C | c.1125-66T>C | | rs140288211 | 0.009 | 0/1/46 | 0.011 | 0/0/11 | 0.000 | 0/0/11 | 0.000 | 0/2/105 | 0.009 | N/A | | 14 | Exon 9 | g.42653T>C | c.1211T>C | F404S | rs201877149 | 0.000 | 0/0/47 | 0.000 | 0/0/11 | 0.000 | 0/0/11 | 0.000 | 0/1/106 | 0.005 | 0.002 | | 15 | Intron 9 | g.44078C>T | c.1321-24C>T | | rs138194723 | 0.078 | 0/8/39 | 0.085 | 0/1/10 | 0.045 | 0/1/10 | 0.045 | 0/10/107 | 0.043 | 0.029 | | 16 | Exon 10 | g.44181C>T | c.1400C>T | A467V | rs7941523 | 0.000 | 0/0/47 | 0.000 | 0/0/11 | 0.000 | 0/1/10 | 0.045 | 0/1/116 | 0.004 | 0.003 | | 17 | Exon 10 | g.44233G>A | c.1452G>A | Τ484T | rs7941327 | 0.009 | 0/1/46 | 0.011 | 0/0/11 | 0.000 | 0/1/10 | 0.045 | 0/3/114 | 0.013 | 0.024 | | 18 | 3′ UTR | g.44414G>C | c.61G>C | | rs145715586 | 0.000 | 0/0/47 | 0.000 | 0/0/11 | 0.000 | 0/0/11 | 0.000 | 0/1/116 | 0.004 | N/A |
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aGenotype: homozygous/heterozygous/wild type. The numbering of cDNA and amino acids corresponds to SIAE transcript: ENST00000263593.7.
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