The British journal of ophthalmology · 2018
Association of LACC1, CEBPB-PTPN1, RIPK2 and ADO-EGR2 with ocular Behcet's disease in a Chinese Han population.
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Wu Pengcheng, Du Liping, Hou Shengping, Su Guannan, Yang Lu, Hu Jiayue, Deng Jing, Cao Qingfeng, Yuan Gangxiang, Zhou Chunjiang, Kijlstra Aize, Yang Peizeng
Аннотация
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.
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.
Предметные рубрики MeSH
AdultAllelesBehcet SyndromeCCAAT-Enhancer-Binding Protein-betaCarotenoidsChinaEthnicityEye DiseasesFemaleGene FrequencyGenetic Association StudiesGenetic Predisposition to DiseaseGenotypeHumansIncidenceIntracellular Signaling Peptides and ProteinsMaleOxygenasesPolymorphism, Single NucleotideProtein Tyrosine Phosphatase, Non-Receptor Type 1ProteinsReceptor-Interacting Protein Serine-Threonine Kinase 2Retrospective Studies