Kun-Qi Yang1, Yan-Kun Yang1, Xu Meng1, Ying Zhang1, Xiong-Jing Jiang1, Hai-Ying Wu1, Hui-Min Zhang1, Lei Song1, Jin Bian1, Dan Wen2, Lin-Ping Wang1, Xian-Liang Zhou3. 1. Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 167, Beilishi Road, Beijing, 100037, China. 2. Department of Cardiology, Beijing Anzhen Hospital, Capital Medical University, No. 2, Anzhen Road, Beijing, 100029, China. 3. Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 167, Beilishi Road, Beijing, 100037, China. zhouxianliang0326@hotmail.com.
Abstract
OBJECTIVE: The goal of this study was to investigate the relationship between polymorphisms in interleukin (IL)-12, IL-12R, IL-23, and IL-23R genes and Takayasu arteritis (TA) in a Chinese population. METHODS: A case-control study was performed to investigate the associations of 19 single nucleotide polymorphisms (SNPs) mapping to IL12A, IL12B, IL12RB1, IL12RB2 and IL23R with susceptibility to TA in 145 Chinese TA patients and 300 healthy controls. Genotype identification was performed with the MassARRAY system from Sequenom. The statistical analysis was conducted by Chi square test and unconditional logistic regression with plink. RESULTS: No significant differences were found for the distribution of allele and genotype frequencies of these SNPs between TA patients and healthy controls. However, a trend for IL12A rs582054 and IL23R rs1004819 in association with the TA phenotype was detected. TA patients carrying the rs582054/rs568408 haplotype (P' = 0.019) appeared less likely to progress to a more severe form of disease. And the C allele (P' = 0.082) of IL23R rs1004819 appeared to be a protective factor to refractory disease. CONCLUSIONS: These findings suggest that the polymorphisms of IL12A, IL12B, IL12RB1, IL12RB2 and IL23R might make no contribution to the susceptibility of TA in the Chinese population.
OBJECTIVE: The goal of this study was to investigate the relationship between polymorphisms in interleukin (IL)-12, IL-12R, IL-23, and IL-23R genes and Takayasu arteritis (TA) in a Chinese population. METHODS: A case-control study was performed to investigate the associations of 19 single nucleotide polymorphisms (SNPs) mapping to IL12A, IL12B, IL12RB1, IL12RB2 and IL23R with susceptibility to TA in 145 Chinese TA patients and 300 healthy controls. Genotype identification was performed with the MassARRAY system from Sequenom. The statistical analysis was conducted by Chi square test and unconditional logistic regression with plink. RESULTS: No significant differences were found for the distribution of allele and genotype frequencies of these SNPs between TA patients and healthy controls. However, a trend for IL12Ars582054 and IL23Rrs1004819 in association with the TA phenotype was detected. TA patients carrying the rs582054/rs568408 haplotype (P' = 0.019) appeared less likely to progress to a more severe form of disease. And the C allele (P' = 0.082) of IL23Rrs1004819 appeared to be a protective factor to refractory disease. CONCLUSIONS: These findings suggest that the polymorphisms of IL12A, IL12B, IL12RB1, IL12RB2 and IL23R might make no contribution to the susceptibility of TA in the Chinese population.
Authors: Güher Saruhan-Direskeneli; Travis Hughes; Kenan Aksu; Gokhan Keser; Patrick Coit; Sibel Z Aydin; Fatma Alibaz-Oner; Sevil Kamalı; Murat Inanc; Simon Carette; Gary S Hoffman; Servet Akar; Fatos Onen; Nurullah Akkoc; Nader A Khalidi; Curry Koening; Omer Karadag; Sedat Kiraz; Carol A Langford; Carol A McAlear; Zeynep Ozbalkan; Askin Ates; Yasar Karaaslan; Kathleen Maksimowicz-McKinnon; Paul A Monach; Hüseyin T Ozer; Emire Seyahi; Izzet Fresko; Ayse Cefle; Philip Seo; Kenneth J Warrington; Mehmet A Ozturk; Steven R Ytterberg; Veli Cobankara; A Mesut Onat; Joel M Guthridge; Judith A James; Ercan Tunc; Nurşen Duzgun; Muge Bıcakcıgil; Sibel P Yentür; Peter A Merkel; Haner Direskeneli; Amr H Sawalha Journal: Am J Hum Genet Date: 2013-07-03 Impact factor: 11.025
Authors: Andrew Johnston; Xianying Xing; William R Swindell; James Kochkodan; Marybeth Riblett; Rajan P Nair; Philip E Stuart; Jun Ding; John J Voorhees; James T Elder; Johann E Gudjonsson Journal: Hum Mol Genet Date: 2013-01-31 Impact factor: 6.150
Authors: John D Reveille; Anne-Marie Sims; Patrick Danoy; David M Evans; Paul Leo; Jennifer J Pointon; Rui Jin; Xiaodong Zhou; Linda A Bradbury; Louise H Appleton; John C Davis; Laura Diekman; Tracey Doan; Alison Dowling; Ran Duan; Emma L Duncan; Claire Farrar; Johanna Hadler; David Harvey; Tugce Karaderi; Rebecca Mogg; Emma Pomeroy; Karena Pryce; Jacqueline Taylor; Laurie Savage; Panos Deloukas; Vasudev Kumanduri; Leena Peltonen; Sue M Ring; Pamela Whittaker; Evgeny Glazov; Gethin P Thomas; Walter P Maksymowych; Robert D Inman; Michael M Ward; Millicent A Stone; Michael H Weisman; B Paul Wordsworth; Matthew A Brown Journal: Nat Genet Date: 2010-01-10 Impact factor: 38.330