Lack of association of C3 gene with uveitis: additional insights into the genetic profile of uveitis regarding complement pathway genes

Abstract Uveitis is a devastating ocular disease that causes blindness. Our previous studies have achieved great advancements in depicting the genetic profiles of uveitis regarding complement pathway genes. This study aimed to provide additional insights into this interest by testing the “central” f...

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Autores principales:	Ming Ming Yang, Jun Wang, Li Dong, De Ju Kong, Yan Teng, Ping Liu, Jiao Jie Fan, Xu Hui Yu
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/93636c321d444d41a471fcfb4aa21d2b
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spelling	oai:doaj.org-article:93636c321d444d41a471fcfb4aa21d2b2021-12-02T12:31:48ZLack of association of C3 gene with uveitis: additional insights into the genetic profile of uveitis regarding complement pathway genes10.1038/s41598-017-00833-12045-2322https://doaj.org/article/93636c321d444d41a471fcfb4aa21d2b2017-04-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-00833-1https://doaj.org/toc/2045-2322Abstract Uveitis is a devastating ocular disease that causes blindness. Our previous studies have achieved great advancements in depicting the genetic profiles of uveitis regarding complement pathway genes. This study aimed to provide additional insights into this interest by testing the “central” factor of the complement system, C3 gene variants, in two uveitis entities. Eight haplotype-tagging SNPs of C3 gene were genotyped in 141 anterior uveitis (AU), 158 non-infectious intermediate and posterior uveitis (NIPU) and 293 controls. The results showed that none of the tagging SNPs had a significant association with uveitis (P > 0.05), either in the global uveitis or subtypes. Although rs428453 showed a nominal association with NIPU subtype in the recessive model (P = 0.042), the P value could not withstand the Bonferroni correction (P corr > 0.05). Stratification analyses according to HLA-B27 status and correlation analysis still did not find any significant interactions or genetic markers regarding AU. Logistic regression analysis also revealed no gender-related epistatic effects of C3 on uveitis. Two haplotype blocks were defined across the C3 locus but neither of them was significantly associated with uveitis or subtypes. This study shows no significant association of the C3 gene with uveitis, suggesting C3 confers either no or limited risk for uveitis susceptibility.Ming Ming YangJun WangLi DongDe Ju KongYan TengPing LiuJiao Jie FanXu Hui YuNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-8 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Ming Ming Yang Jun Wang Li Dong De Ju Kong Yan Teng Ping Liu Jiao Jie Fan Xu Hui Yu Lack of association of C3 gene with uveitis: additional insights into the genetic profile of uveitis regarding complement pathway genes
description	Abstract Uveitis is a devastating ocular disease that causes blindness. Our previous studies have achieved great advancements in depicting the genetic profiles of uveitis regarding complement pathway genes. This study aimed to provide additional insights into this interest by testing the “central” factor of the complement system, C3 gene variants, in two uveitis entities. Eight haplotype-tagging SNPs of C3 gene were genotyped in 141 anterior uveitis (AU), 158 non-infectious intermediate and posterior uveitis (NIPU) and 293 controls. The results showed that none of the tagging SNPs had a significant association with uveitis (P > 0.05), either in the global uveitis or subtypes. Although rs428453 showed a nominal association with NIPU subtype in the recessive model (P = 0.042), the P value could not withstand the Bonferroni correction (P corr > 0.05). Stratification analyses according to HLA-B27 status and correlation analysis still did not find any significant interactions or genetic markers regarding AU. Logistic regression analysis also revealed no gender-related epistatic effects of C3 on uveitis. Two haplotype blocks were defined across the C3 locus but neither of them was significantly associated with uveitis or subtypes. This study shows no significant association of the C3 gene with uveitis, suggesting C3 confers either no or limited risk for uveitis susceptibility.
format	article
author	Ming Ming Yang Jun Wang Li Dong De Ju Kong Yan Teng Ping Liu Jiao Jie Fan Xu Hui Yu
author_facet	Ming Ming Yang Jun Wang Li Dong De Ju Kong Yan Teng Ping Liu Jiao Jie Fan Xu Hui Yu
author_sort	Ming Ming Yang
title	Lack of association of C3 gene with uveitis: additional insights into the genetic profile of uveitis regarding complement pathway genes
title_short	Lack of association of C3 gene with uveitis: additional insights into the genetic profile of uveitis regarding complement pathway genes
title_full	Lack of association of C3 gene with uveitis: additional insights into the genetic profile of uveitis regarding complement pathway genes
title_fullStr	Lack of association of C3 gene with uveitis: additional insights into the genetic profile of uveitis regarding complement pathway genes
title_full_unstemmed	Lack of association of C3 gene with uveitis: additional insights into the genetic profile of uveitis regarding complement pathway genes
title_sort	lack of association of c3 gene with uveitis: additional insights into the genetic profile of uveitis regarding complement pathway genes
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/93636c321d444d41a471fcfb4aa21d2b
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Lack of association of C3 gene with uveitis: additional insights into the genetic profile of uveitis regarding complement pathway genes

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