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. 2018 Nov 29;41(4):727–734. doi: 10.1590/1678-4685-GMB-2017-0312

Table 5. Analyses of combined alleles of PTPN22 and CTLA4 genes, haplotypes and genotypes of -550 and -221 promoter region and exon 1 of MBL2 gene in TS patients and controls.

PTPN22 CTLA4 Frequencies in TS Frequencies in controls p-value OR (95% C.I.)
G A 0.6512 0.5697 Reference 1.00
G G 0.3372 0.3939 0.16 0.76 (0.52-1.11)
A A 0.0116 0.027 0.25 0.39 (0.08 - 1.93)
A G 0 0.0093 1 0.00 (-Inf - Inf)
Global haplotype association p-value: 0.14
MBL producers and haplotype Frequencies in TS Frequencies in controls p-value OR (95% C.I.)
High MBL producers
LYA 0.3827 0.4272 Reference 1.00
HYA 0.2586 0.2694 0.89 1.04 (0.62 1.73)
Low MBL producers
LXA 0.1453 0.1467 0.69 1.12 (0.64 1.94)
Deficient MBL producers
LYO 0.1464 0.0861 0.13 1.75 (0.85 3.60)
HYO 0.0669 0.0706 0.84 1.10 (0.45 2.67)
Global haplotype association p-value: 0.63
MBL producers and genotypes TS group (n = 65) Control (n = 150) p-value OR (95%C.I.)
High MBL producers
HYA/HYA
HYA/LYA 27 (0.42) 76 (0.51) Reference Reference
LYA/LYA
Low MBL producers
LXA/LXA
LYA/LXA
HYA/LXA
HYA/HYO 32 (0.49) 63 (0.42) 0.278 1.42(0.74-2.76)
HYA/LYO
LYA/LYO
Deficient MBL producers
HYO/LXA
HYO/LYO
LYO/LXA 6 (0.09) 11 (0.07) 0.558 1.53(0.42-5.06)
LYO/LYO
HYO/HYO