The Study On Mutant Genes Of Cold Urticaria Familiy And The Association Between Thyriod Autobodies And Chronic Urticaria:a Meta-analysis

This study is divided into two chapters,the first chapter is The Study on mutant genes of cold urticaria family,and the second chapter is a meta-analysis of the association between thyriod autobodies and chronic urticaria.Chapter 1 abstract:Objective Two FCU families and 16 cases of cold urticaria,which living in Ordos,Inner Mongolia,China of Han nationality,were tested for the presence or absence of mutated genes and compared with the existing genes.To investigate the occurrence,phenotypic characteristics,genetic patterns,pathogenic genes and their mechanisms of familial cold urticaria.Methods DNA was extracted from the venous blood of the 16 cases of cold urticaria and the 71 petients,who come from two families of probands,family members with the same disease and unaffected family members.All exon sequencing was used for detecting the presence or absence of pathogenic mutations.Results The proband of family Ⅰ and the family members with the same disease have the same clinical characteristics as cold urticaria can be diagnosed with familial cold urticaria;the proband of family Ⅱ and the family with the same disease are suspicious familial cold urticaria.SLC44A3--NM₀01258342 Exon6:c.563C>A:p.A188 D,NM₀01258343:exon6:c.467C>A:p.A156D,NM₀01301079:Exon6:c.C431C>A:p.A144D,NM₁52369:exon6:c.C527C>A:p.A176D,NM₀01114106:exon7:c.671C>A:p.A224D,NM₀01258340:exon7:c.671C>A:p.A224D,NM₀01258341:exon7:c.575C>A:p.A192D;were detected at 1p21.3 in patients of family I:TRMT5--NM₀20810:exon5:C.1481C>T:p.T494M is detected at 14q23.1in patients of family I;2 of 16 patients with cold urticaria detected TRMT5--NM₀20810:exon5:c.C1481C>T:p.T494M;family Ⅱ didn’t detected the SLC44A3 and TRMT5 mutant genes;the Mutant Genes of CIAS1,NLRP12,PLCG2 and NLRC4 weren’t detected in the family Ⅰ.Conclusions（1）Family Ⅰ is FCU and Family Ⅱ is Suspicious FCU.（2）FCU family Ⅰdetected SLC44A3 and TRMT5 which are new mutant genes.（3）Two patients with sporadic cold urticaria detected TRMT5 mutant gene.（4）The SLC44A3 and TRMT5 mutant genes weren’t detected in FCU family Ⅱ.（5）The CIAS1,NLRP12,PLCG2 and NLRC4 mutant genes weren’t detected in family Ⅰ.Chapter 2 abstract:Objective To systematically review the association between thyriod autobodies and chronic urticaria.Methods We searched The Cochrane Library、PubMed、The Web of Science、EMBase、CNKI、VIP、WanFang Data and Sinomed to collect studies on the association between thyriod autobodies and chronic urticaria from inception to November,2018.Two reviewers independently screened literature,extracted data and assessed the risk of bias of included studies,then,meta-analysis was performed by using Stata 12.0 software.Results A total of 25 case-control studies were included,including 2224 patients with chronic urticaria and 1617 controls.The results of Meta-analysis showed that:Compared with the control group,the positive rate of anti-thyroid peroxidase antibody[OR=7.67,95%CI（4.92～11.95）,P<0.001]and the positive rate of anti-thyroglobulin antibody[OR=7.77,95%CI（4.55～13.26）,P<0.001]significantly increased the risk of chronic urticaria.There was no significant difference between TPO-Ab positive rate and TG-Ab positive rate in the chronic urticaria group[OR=1.08,95%ci（0.87～1.35）,P=0.499].Results form Meta-analysis showed that the distribution of residential areas and detection method being used were potential influential factors.Conclusions The incidence of chronic urticaria is correlated with thyroid autoantibodies,but there is no significant difference between different antibodies and the occurrence of chronic urticaria.The results are related to the regional distribution and detection methods.