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CD226 haplotype associated with pulmonary fibrosis in patients with systemic sclerosis
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A three-variant haplotype of CD226 is associated with the genetic predisposition to systemic sclerosis-related pulmonary fibrosis, although the three genetic variants individually do not influence that susceptibility, according to recent findings.
Researchers conducted a multicenter study of seven European populations of Caucasian ancestry to test the influence of CD226 loci on systemic sclerosis (SSc) susceptibility, clinical phenotypes and autoantibody status. The study included 2,131 patients with SSc and 3,966 controls. Using TaqMan expression assays, researchers genotyped rs763361, rs34794968 and rs727088, all CD226 single nucleotide polymorphisms (SNPs).
None of the SNPs showed evidence of association with the global disease or the subphenotypes during pooled analyses. Researchers did find, however, a significant association for the TCG haplotype (SNP order: rs763361, rs34794968, rs727088) with patients who were lung fibrosis positive (OR=1.27; 95% CI, 1.05-1.54) when haplotype block analysis was conducted. They also observed a trend for the TCG haplotype when they compared the lung fibrosis-positive patients and the lung fibrosis-negative group (OR=1.24; 95% CI, 0.99-1.56). The relationship was considered statistically insignificant, researchers said, possibly because the lung fibrosis-negative subgroup (n=1,572) was smaller than the control group.
“Our data suggest that previously autoimmune-associated CD226 gene polymorphisms play a role in the SSc pulmonary fibrosis events in European Caucasian populations,” researcher Lara Bossini-Castillo, the Institute of Parasitology and Biomedicine López-Neyra in Granada, Spain, told Healio.com. “Since the genetic network underlying the fibrotic process in SSc is still unknown, the novel associations must be independently replicated to establish the real players in fibrosis and lung involvement. … great effort must be done to carry out genetic studies, including lung involvement genetic susceptibility analyses.”
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