Background Glaucoma is the irreversible vision loss and contributes second leading cause of blindness worldwide. Matrix metalloproteinase‐9 (MMP‐9) is involved with remodeling and destruction of extracellular matrix. Elevated MMP‐9 levels and various functional variants of MMP‐9 have been associated with glaucoma in different population. In the current investigation, we tested association of MMP‐9 common variants with different clinical categories of glaucoma in Chinese population. Materials and Methods We enrolled total of 396 glaucoma patients those reported to hospital comprising of 212 primary angle closure glaucoma (PACG) cases and 184 primary open‐angle glaucoma POAG patients. In addition, 329 normal individuals from similar geographical areas were enrolled as healthy controls. Five common single nucleotide polymorphisms (rs3918242, rs3918254, rs2250889, rs3918249, and rs17576) were genotyped by PCR‐RFLP. Plasma levels of MMP‐9 were quantified by ELISA. Results Heterozygotes (GC) and allele “G” for rs2250889 polymorphism were more frequent in PACG cases compared with healthy controls (GC: P < .0001, OR = 2.26; G: P < .0001, OR = 1.19). Similarly, heterozygous mutant and minor allele for rs3918242 polymorphism were more prevalent in POAG in comparison with healthy controls. Interestingly, distribution of rs17576 variant was statistically higher in both PACG and POAG cases than healthy controls. Furthermore, analysis of plasma MMP‐9 with MMP‐9 polymorphisms revealed significant association of rs2250889, rs3918242, and rs17576 with plasma levels of the protein. Conclusions MMP‐9 mutants are associated with elevated plasma MMP‐9 and predisposed to development of glaucoma.

Systemic lupus erythematosus (SLE) is a complex autoimmune disease with immunological defects caused by abnormal immune regulation and excessive production of autoantibodies. Interferon regulatory factor 4 (IRF4) as a lymphocyte-restricted member of the IRF family is expressed exclusively in immune system cells and is essential for the development of T helper-2 (Th2) cells, IL17-producing T helper (Th17) cells, and IL9-producing T helper (Th9) cells. Some studies have shown that IRF4 is important in the development of autoimmune diseases. The role of IRF4 in human SLE has not been extensively studied. This article will discuss the relationship between the IRF4 gene polymorphism (single nucleotide polymorphism rs872071) and the susceptibility to SLE in a Chinese Han population. A case-control study was performed with 663 SLE patients and 658 healthy controls. The results showed that IRF4 gene polymorphism (rs872071) was not significantly different between SLE patients and healthy controls [A/G vs. G/G: p = 0.543, odds ratio (OR) = 0.872, 95 % confidence interval (CI) 0.562-1.355; G vs. A: p = 0.512, OR = 1.058, 95 % CI 0.893-1.254; A/A + A/G vs. G/G: p = 0.475, OR = 0.857, 95 % CI 0.562-1.308]. Similarly, in a subgroup analysis of clinical manifestation of lupus nephritis (LN), no significant differences were found between the non-LN group and the LN group (G/G vs. A/G vs. A/A: χ(2) = 0.611, p = 0.631; G vs. A: χ(2) = 0.411, p = 0.521).These findings suggest that the IRF4 gene polymorphism is not associated with SLE in a Chinese Han population; further studies are needed to establish the role of IRF4 in SLE with a larger sample size.