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Updated: Mar 8, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
ERAP1 rs30187 single nucleotide polymorphism does not confer disease susceptibility in North Indian children with
Rajni Srivastava1, Sanat Phatak1, Amita Aggarwal2
1Department of Clinical Immunology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226014, India.
Abstract:
ERAP1 single nucleotide polymorphisms (SNP) are associated with ankylosing spondylitis. Data on ERAP1SNPs in juvenile idiopathic arthritis (JIA) is scarce. ERAP1 rs30187 SNP was shown to confer risk in the enthesitis-related arthritis (ERA) category of JIA. We examined the prevalence and association of this SNP in Indian children with ERA. SNPs in ERAP1 (rs30187) were genotyped in children with ERA (n = 271), ankylosing spondylitis (AS) (n = 213) and healthy controls (n = 101), using Taqman genotyping. Allele frequencies and genotype frequencies were calculated and compared using the Cochran Armitage test. Minor allele frequencies were 0.52 in ERA, 0.57 in AS, and 0.57 in healthy controls. Neither ERA nor AS patients showed significant association with this SNP. Segregating according to HLAB27 status did not alter the lack of association. rs30187 SNP in ERAP1 does not confer risk of developing ERA or AS in the Asian Indian population.
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