Genetic variations in LIGHT are associated with susceptibility to ankylosing spondylitis in a Chinese Han population

Abstract

Ankylosing spondylitis (AS) is a common chronic autoimmune disease characterized by inflammation of axial skeleton and has strong genetic susceptibility. Single nucleotide polymorphisms (SNPs) have been found playing an important role in the development of AS. This study intends to explore whether the susceptibility to AS is associated with rs2171513 C > T, rs1077667 G > A in LIGHT (lymphotoxin, expressed on T lymphocytes) and rs12609318 A > G in B and T lymphocyte attenuator (BTLA) in a Chinese Han population. We studied a total of 497 AS patients and 387 healthy controls in the current research. Clinical characteristics were recorded when they were recruited. Single nucleotide polymorphisms (SNPs) were genotyped by polymerase chain reaction (PCR) and high-resolution melting methods (HRM). Statistically significant difference was found in both co-dominant model (GG vs. GA vs. AA) (p = 4.00E-06) and alleles (p = 4.59E-08) of rs1077667 between patients and controls. There was also a significant difference in alleles of rs2171513 (p = 0.037) between patients and controls. We found rs1077667 in LIGHT and rs2171513 in BTLA with susceptibility to AS, while 12609318 in LIGHT associate with susceptibility to AS. Our results showed that LIGHT might be involved in pathogenesis of AS.