Schematic Diagram of Mutations in the Encoded Proteins of <i>NLRP12/NLRP3/NLRC4/PLCG2</i> Genes Associated with FCAS.

<p>Rectangles with different colors indicate specific protein domains. The solid blue line indicates the position of the reported mutation, and the solid red line shows the p.Trp408* mutation related to our study.</p

A c.1223G>A Mutation in <i>NLRP12</i> Identified in an FCAS Family.

<p>(a) Flow diagram of the filtering analysis of the exome sequencing data. The data from the patients and controls were compared, and known SNPs and InDels were excluded as described in the Materials and Methods section. The causative mutation was identified after a comprehensive analysis. (b) The c.1223G>A mutation in patient III-5 compared to the control was confirmed by Sanger sequencing. The position is indicated by an arrow. (c) Sequence alignment of multiple species. The red line shows the position of the p.Trp408X mutation.</p

Clinical Summary of the Individuals in this Study.

<p>M, Male; F, Female; +, Affected; -, Not affected.</p

Structural Difference between Wild-type and C-terminal Truncated <i>NLRP12</i> Proteins.

<p>Function predictions of the truncated protein and the wild-type (full-length) <i>NLRP12</i> were carried out. The truncated protein (p.Trp408X) is represented in green. The full length protein is represented in blue. It is clear that the mutation disrupts the integrity of the <i>NLRP12</i> protein.</p

NLRP12 Gene Mutations and Diseases.

<p>ND, Not detectable; NA, No answer.</p

Summary of the Exome Sequencing Data.

<p>Summary of the Exome Sequencing Data.</p

Genotype-Phenotype Association Study Reveals <i>CFI</i>-Rs13104777 to be a Protective Genetic Marker Against Acute Anterior Uveitis

<p><i>Purpose</i>: To investigate the roles of <i>CFI</i>, genotype-phenotype associations were identified in AAU.</p> <p><i>Methods</i>: A case–control study was conducted in a total of 575 subjects consisting of 279 AAU patients and 296 healthy controls. Genotypic analyses were performed using Sequenom MassARRAY technology. Analyses were stratified to a series of clinical ophthalmic confounding factors.</p> <p><i>Results</i>: A lower frequency of the <i>CFI</i>-rs13104777 C allele was found in the AAU cohort compared with the controls, and, thus, was significantly associated with AAU pathogenesis (<i>p</i> = 0.041, OR = 0.712, 95% CI: 0.513–0.987). Stratified analysis also demonstrated the associations may differ depending on the HLA-B27 status and laterality status.</p> <p><i>Conclusions</i>: This study has revealed a significant genetic role for <i>CFI</i>-rs13104777 in AAU. This influence may be dependent on human leukocyte antigen (HLA)-B27 and disease laterality. Overall, the results provide evidence for a pathogenic role for <i>CFI</i> in AAU and expand our knowledge on the genetic basis of AAU.</p