A susceptibility locus for primary Sjögren's syndrome at 7q11.23 was identified by Chinese scientists

From: Prof. Wang Jing’s Research Team


A new susceptibility locus for primary Sjögren's syndrome (pSS) at 7q11.23 in Han Chinese has been identified recently by a three-stage genome-wide association study (GWAS). This study was carried out by a research group consisting of Prof. Wang Jing’s research team from Key Laboratory of Mental Health, Institute of Psychology, Chinese Academy of Sciences, Prof. Zhang Fengchun’s research team from Peking Union Medical College Hospital and other researchers from 39 affiliations. The study was published online on Oct. 6, 2013 in Nature Genetics, as one of the latest highlights.


Sjögren's syndrome is a systemic autoimmune disease, which is characterized by lymphocytic infiltration of exocrine glands and epithelia at multiple sites. Patients exhibit a persistent feeling of dry eyes (keratoconjunctivitis sicca) and dry mouth (xerostomia). Sjögren's syndrome may occur alone (called as primary Sjögren's syndrome) or in association with another defined autoimmune disease such as systemic lupus erythematosus (called as secondary Sjögren's syndrome). Primary Sjögren's syndrome is one of the most common autoimmune diseases, with estimated prevalence of 0.05–4.8% globally and 0.77% in China. Compared with the healthy subjects, patients with pSS show obvious depressive symptoms, together with decrease of smell, taste and cognitive ability.


To reveal new genetic factors, the research group performed the first GWAS for primary Sjögren's syndrome in Han Chinese. In this study, 1845 cases and 3777 healthy controls (Han Chinese) were analyzed and two novel genes, GTF2IRD1 and GTF2I, were reported to be associated with pSS. Evidences have also supported the association between these two genes and neurocognitive defects in Williams-Beuren Syndrome. It is a breakthrough achieved collaboratively by Chinese scientists.


These findings indicated that pSS and diseases related with neurocognitive defects share common genes and potential pathogenic mechanism. On the basis of the achievements, Prof. Wang’s team will perform intersection analyses between autoimmune diseases and psychiatric disorders to reveal their relationship.


The study was funded by research projects from Chinese Academy of Sciences, Ministry of Science and Technology, Ministry of Health, and National Natural Science Foundation of China.


Li Y*, Zhang K*, Chen H*, …, Wang J# & Zhang F#. A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren’s syndrome at 7q11.23. Nature Genetics (2013) doi:10.1038/ng.2779 URL: http://www.nature.com/doifinder/10.1038/ng.2779