Genetic Variants of IκB Kinase β (IKBKB) and Polymerase β (POLB) Were Not Associated with Systemic Lupus Erythematosus Risk in a Chinese Han Population

Yuan Li; Ziyan Wu; Shulan Zhang; Si Chen; Ping Li; Jing Li; Chongwei Cao; Bin Liu; Fengchun Zhang; Yongzhe Li

doi:10.1371/journal.pone.0132556

Genetic Variants of IκB Kinase β (IKBKB) and Polymerase β (POLB) Were Not Associated with Systemic Lupus Erythematosus Risk in a Chinese Han Population

PLoS One. 2015 Jul 13;10(7):e0132556. doi: 10.1371/journal.pone.0132556. eCollection 2015.

Authors

Yuan Li¹, Ziyan Wu², Shulan Zhang², Si Chen², Ping Li², Jing Li², Chongwei Cao², Bin Liu³, Fengchun Zhang², Yongzhe Li²

Affiliations

¹ Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, 2) Department of Rheumatology, The Affiliated Hospital of Qingdao University, China.
² Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.
³ Department of Rheumatology, the Affiliated Hospital of Qingdao University, Qingdao, China.

Abstract

A previous large-scale replication study validation of a genome wide association study (GWAS) identified IκB kinase β (IKBKB) single nucleotide polymorphisms (SNPs) as a risk factor associated with systemic lupus erythematosus (SLE) in a Chinese Han population. IKBKB SNPs were associated with polymerase β (POLB) SNPs and reduced POLB expression, and this was proposed to be an underlying cause of human SLE development. In the current case-control study, we evaluated IKBKB (rs12676482 and rs2272733) and POLB (rs3136717 and rs3136744) SNPs in 946 SLE patients and 961 healthy controls. We investigated the possible association of these four SNPs with SLE in a Chinese Han population using the polymerase chain reaction-ligation detection reaction (PCR-LDR) technique. The differences in the frequencies of the four SNP alleles and the genotypes and haplotypes of the POLB polymorphisms were statistically insignificant when the SLE patients were compared with the controls in the Chinese Han population enrolled in this study (all, p ˃ 0.05). Furthermore, no associations were detected using different genetic models (additive, dominant, and recessive; all, p ˃ 0.05). Our findings indicate that the IKBKB (rs12676482 and rs2272733) and POLB (rs3136717, rs3136744) SNPs confer no genetic predisposition to SLE risk in this Chinese Han population.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Case-Control Studies
China
DNA Polymerase beta / genetics*
Ethnicity / genetics*
Female
Gene Frequency
Genetic Predisposition to Disease*
Genotype
Humans
I-kappa B Kinase / genetics*
Lupus Erythematosus, Systemic / genetics*
Male
Middle Aged
Polymorphism, Single Nucleotide
Young Adult

Substances

I-kappa B Kinase
DNA Polymerase beta

Grants and funding

This work was supported by funding from the Research Special Fund for Public Welfare Industry of Health No. 201202004 (to FCZ), and the National Natural Science Foundation of China Grants 81072486, 81172857, 81373188 (to YZL) and the Natural Sciences Foundation of China No.81241094 (to BL) and Technology program of basic research projects of Qingdao city No.13-1-4-138-jch (BL).