Article Text
Abstract
Background An Immunochip study recently identified the association of a number of new genetic loci with Behcet’s disease (BD).
Objective To confirm the association between new genetic loci reported in an Immunochip study and BD in a Han Chinese population.
Methods A two-stage association study was carried out in 1238 patients with BD and 1458 healthy controls. Twenty-two candidate single nucleotide polymorphisms (SNPs) were selected for genotyping by iPLEXGold genotyping or TaqMan SNP assays and a meta-analysis was performed for significantly associated markers.
Results The results showed that four SNPs (LACC1/rs9316059, CEBPB-PTPN1/rs913678, ADO-EGR2/rs224127 and RIPK2/rs10094579) were associated with BD in an allelic association test (rs9316059 T allele: pc=4.95×10−8, OR=0.687; rs913678 C allele: pc=3.01×10−4, OR=1.297; rs224127 A allele: pc=3.77×10−4, OR=1.274; rs10094579 A allele: pc=6.93×10−4, OR=1.302). For four SNPs tested by meta-analysis, the association with BD was strengthened and all exceeded genome-wide significance (rs9316059: p=2.96×10−16; rs913678: p=2.09×10−16; rs224127: p=5.28×10−13; rs10094579: p=9.21×10−11).
Conclusions Our findings confirmed the association of four loci (LACC1, CEBPB-PTPN1, ADO-EGR2 and RIPK2) in Chinese Han patients with BD.
- Genetics
- Immunology
- Inflammation
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Footnotes
PW, LD and SH contributed equally.
Contributors PW, LD and SH are joint first authors and anlaysed the data. PW and PY designed the study. PW, LY and JH collected the data. PY made clinical diagnoses. GS, LY, JH, JD, QC and CZ collected the samples. LY, JH, JD, QC and GY extracted the blood DNA. PW drafted the manuscript. PY, SH, GS and AK helped revise the manuscript. All authors have read and approved the final manuscript.
Funding This work was supported by Major Research Development Program of China (2016YFC0904000), Natural Science Foundation Major International (Regional) Joint Research Project (81720108009), Natural Science Foundation Major International (Regional) Joint Research Project (81320108009), National Natural Science Foundation Project (81522013), Chongqing Outstanding Youth Grant (cstc2014jcyjjq10005), Chongqing Key Laboratory of Ophthalmology (CSTC2008CA5003), Chongqing Science and Technology Platform and Base Construction Program (cstc2014pt-sy10002) and Research fund for Traditional Chinese Medicine of Chongqing Health and FamilyPlanning Commission (ZY201401013). Thanks to all donors enrolled in the present study.
Competing interests None declared.
Patient consent Parental/guardian consent obtained.
Ethics approval This study was approved by the ethics committee of the First Affiliated Hospital of Chongqing Medical University, Chongqing, China (Permit Number 2009–201008).
Provenance and peer review Not commissioned; externally peer reviewed.
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