Association of Toll-like receptor 2 polymorphisms with gout

Abstract

Abstract. Gout is the most common autoinflammatory arthritis characterized by elevated serum urate and recurrent attacks of intra-articular crystal deposition of monosodium urate (MSU) in tissues. The pathogenesis of gout has not been fully determined, although certain genetic factors are involved in the development of gout. Accumulated data suggested that MSU crystal-induced inflammation is a paradigm of innate immunity. As Toll-like receptors (TLRs) are the underlying mechanisms of the innate immune response, the present study aimed to investigate whether TLR2 polymorphisms are associated with gout. Two single-nucleotide polymorphisms (Arg677Trp and Arg753Gln, rs5743708) in TLR2 were genotyped by polymerase chain reaction-restriction fragment length polymorphism and the -196 to -174 del polymorphism was investigated using the allele-specific polymerase chain reaction in 431 individuals (215 patients with gout and 216 healthy controls). TLR2 Arg677Trp and Arg753Gln genotyping indicated that all the positive samples were of the wild-type genotype. No significant differences in genotype (χ 2 =1.686, P=0.430) and allele (χ 2 =1.430, P=0.232) frequencies of the -196 to -174 del polymorphism between the patients with gout and the control groups was observed. Our results suggested that the TLR2 Arg677Trp, Arg753Gln and the -196 to -174 del polymorphisms were not associated with susceptibility to primary gouty arthritis.

Clinical significance of the single nucleotide polymorphism TLR2 R753Q in heart transplant recipients at risk for cytomegalovirus disease

“…The relative frequency of the heterozygous TLR2 R753Q polymorphism varies with geographic region and population studied -0% in Asia [20,21], 9% in the US [10], and 1.3%-11.4% in Europe [22][23][24][25][26][27]. In concordance, we found a relative frequency of the heterozygous polymorphism of 5.7% and of the homozygous mutated polymorphism of 0.4% in the general Austrian population.…”

Associations of plasma homocysteine levels with peripheral systolic blood pressure and noninvasive central systolic blood pressure in a community-based Chinese population

“…However, whether homocysteine (Hcy) is a risk factor for hypertension still remains controversial. Several findings in conventional observational analyses supported a positive association between Hcy concentration and blood pressure (BP) 2–4 as well as higher Hcy in hypertensive patients compared to normotensive patients in case-control studies 5–7 , but subsequent prospective studies yielded considerably weaker associations 8–10 . In contrast, observations that homocysteine-lowering therapies with folic acid-based treatments were associated with decreases in BP raise the possibility that the link between Hcy and BP is causal 11–14 .…”

Investigation on the association between NLRP3 gene polymorphisms and susceptibility to primary gout

“…Previous studies reported that the prevalence of gout in eastern China is approximately 2% in men and 0.5% in women, while it was less than 0.1% overall 10 years ago (Miao et al, 2008). The development of gout is caused by multiple factors, including environmental and genetic factors (Qing et al, 2013;Cai et al, 2014;Li et al, 2014;Roddy and Choi, 2014).…”