Tingting Pang1,2, Liping Du3, Fuzhen Li1, Yizong Liu1,2, Xin Ma1,2, Qingfeng Cao3, Liying Shi1, Na Li1, Aize Kijlstra4, Peizeng Yang5,6. 1. Department of Ophthalmology, the First Affiliated Hospital of Zhengzhou University, Henan Province Eye Hospital, Henan International Joint Research Laboratory for Ocular Immunology and Retinal Injury Repair, Zhengzhou, People's Republic of China. 2. The Academy of Medical Sciences, Zhengzhou University, Zhengzhou, People's Republic of China. 3. The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, People's Republic of China. 4. University Eye Clinic Maastricht, Maastricht, Limburg, The Netherlands. 5. Department of Ophthalmology, the First Affiliated Hospital of Zhengzhou University, Henan Province Eye Hospital, Henan International Joint Research Laboratory for Ocular Immunology and Retinal Injury Repair, Zhengzhou, People's Republic of China. peizengycmu@126.com. 6. The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, People's Republic of China. peizengycmu@126.com.
Abstract
BACKGROUND: Previous studies have shown that aberrant T lymphocyte apoptosis is involved in the pathogenesis of uveitis. Genetic variants of apoptotic pathway-related factors (including PDCD1, PDCD1LG2, FAS, and FASLG) may affect apoptosis and in turn predict susceptibility to autoimmune disease. This has not yet been studied in pediatric idiopathic uveitis (PIU) and juvenile idiopathic arthritis (JIA)-associated uveitis and was therefore the subject of the study presented here. METHODS: Fourteen single-nucleotide polymorphisms (SNPs) of several apoptosis-related pathway genes were analyzed in 1238 PIU patients, 128 JIA-associated uveitis patients and 1114 healthy controls using the iPLEX Gold Assay and MassARRAY platform. RESULTS: A lower frequency of the PDCD1/rs6710479 CC genotype in PIU patients was found when compared to controls (Pc = 3.42 × 10-3). A higher frequency of the PDCD1/rs7421861 A allele (Pc = 4.85 × 10-3) was observed in PIU patients as compared with controls. Stratification analysis showed a positive association of band keratopathy with the PDCD1/rs7565639 CT genotype (Pc = 1.05 × 10-2) and a negative association of this parameter with the PDCD1/rs7565639 C allele (Pc = 3.76 × 10-2). CONCLUSIONS: This study revealed that rs6710479 and rs7421861 in the PDCD1 gene confer susceptibility to PIU in Han Chinese. A stratified analysis showed that PDCD1/rs7565639 is associated with band keratopathy in PIU patients.
BACKGROUND: Previous studies have shown that aberrant T lymphocyte apoptosis is involved in the pathogenesis of uveitis. Genetic variants of apoptotic pathway-related factors (including PDCD1, PDCD1LG2, FAS, and FASLG) may affect apoptosis and in turn predict susceptibility to autoimmune disease. This has not yet been studied in pediatric idiopathic uveitis (PIU) and juvenile idiopathic arthritis (JIA)-associated uveitis and was therefore the subject of the study presented here. METHODS: Fourteen single-nucleotide polymorphisms (SNPs) of several apoptosis-related pathway genes were analyzed in 1238 PIUpatients, 128 JIA-associated uveitispatients and 1114 healthy controls using the iPLEX Gold Assay and MassARRAY platform. RESULTS: A lower frequency of the PDCD1/rs6710479 CC genotype in PIUpatients was found when compared to controls (Pc = 3.42 × 10-3). A higher frequency of the PDCD1/rs7421861 A allele (Pc = 4.85 × 10-3) was observed in PIUpatients as compared with controls. Stratification analysis showed a positive association of band keratopathy with the PDCD1/rs7565639 CT genotype (Pc = 1.05 × 10-2) and a negative association of this parameter with the PDCD1/rs7565639 C allele (Pc = 3.76 × 10-2). CONCLUSIONS: This study revealed that rs6710479 and rs7421861 in the PDCD1 gene confer susceptibility to PIU in Han Chinese. A stratified analysis showed that PDCD1/rs7565639 is associated with band keratopathy in PIUpatients.
Authors: Ross E Petty; Taunton R Southwood; Prudence Manners; John Baum; David N Glass; Jose Goldenberg; Xiaohu He; Jose Maldonado-Cocco; Javier Orozco-Alcala; Anne-Marie Prieur; Maria E Suarez-Almazor; Patricia Woo Journal: J Rheumatol Date: 2004-02 Impact factor: 4.666
Authors: Gábor Fidler; Anna Anita Szilágyi-Rácz; Péter Dávid; Emese Tolnai; László Rejtő; Róbert Szász; Szilárd Póliska; Sándor Biró; Melinda Paholcsek Journal: Sci Rep Date: 2022-05-03 Impact factor: 4.996