Genetically determined high activities of the TNF-alpha, IL23/IL17, and NFkB pathways were associated with increased risk of ankylosing spondylitis

Table 6 Association of the TNF haplotype combinations and risk of ankylosing spondylitis (AS). The haplotype combinations in TNF described 97% of the genotypes observed

Haplotype combinations	Haplotypes		N_AS (%)	N_Control (%)	OR^a	(95% CI)	P-value
Haplotype combinations	rs361525 G>A^b	rs1800629 G>A^c	N_AS (%)	N_Control (%)	OR^a	(95% CI)	P-value
11	G:G	G:G	523 (76)	469 (61)	1.00	–	–
22	G:G	A:A	9 (1)	25 (3)	0.32	(0.15–0.70)	0.005
12	G:G	G:A	125 (18)	210 (28)	0.53	(0.41–0.69)	< 0.0001
13	G:A	G:G	26 (4)	47 (6)	0.50	(0.30–0.81)	0.007
14	G:A	G:A	4 (1)	12 (2)	0.30	(0.10–0.93)	0.05

OR Odds ratio
^aOR was calculated for each haplotype combination by using the haplotype 11 as reference group
^bThe variant allele of TNF -238A rs361525A G > A has been shown to reduce expression of TNF-α [49]
^cThe variant allele of TNF -308A rs1800629 G > A has been shown to reduce mRNA level [48]

ISSN: 1471-2350