Background
The
IRF5
and
TYK2
gene polymorphisms are associated with autoimmune diseases. However, the relationship between the
IRF5
and
TYK2
gene polymorphisms and RA risk in the Chinese Han population was inconsistent.
Material/Methods
A total of 578 RA patients (case group) and 578 healthy controls (control group) were assessed in a case-control study. Genotyping of
IRF5
(Exon 6 insertion/deletion (in/de), rs2004640, rs2070197, rs10954213) and
TYK2
(rs280500, rs280519, rs280521, rs8108236, rs12720253) was performed by direct sequencing method. Data analysis was performed by SHEsis.
Results
The rs2004640T allele (
P
=0.0003) and the dominant (
P
=0.001) and recessive (
P
=0.01) models of rs2004640 were associated with RA risk after stringent Bonferroni correction (0.05/4). The
IRF5
exon 6 (in), rs2070197 and rs10954213 were not associated with RA (
P
>0.05). Two haplotypes of
IRF5
(DTAT and DTGG) were associated with RA susceptibility (
P
<0.05). In addition, the frequencies of
TYK2
rs280500A, rs280521A, and rs8108236A were significantly higher in the RA group compared with the control group (
P
<0.05).
TYK2
rs280500, rs280521, and rs8108236 were associated with RA susceptibility in the dominant model, but the same was not observed for rs280519 and rs12720253 (
P
<0.05). Furthermore, 3 risk haplotypes (AAAGT, AGGAT, and GAAAT) and a protective haplotype (GAGGT) of
TYK2
gene were associated with RA susceptibility (
P
<0.05).
Conclusions
Our results suggest that
IRF5
rs2004640,
TYK2
rs280500, rs280521, rs8108236, and haplotypes
IRF5
(DTAT and DTGG) and
TYK2
(AAAGT, AGGAT, GAAAT, and GAGGT) are susceptible factors for RA in a Chinese Han population.