ERAP1 rs30187 single nucleotide polymorphism does not confer disease susceptibility in North Indian children with enthesitis-related arthritis.
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.
Department of Clinical Immunology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226014, India.
Rajni
R
Srivastava
Department of Clinical Immunology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226014, India.
Sanat
S
Phatak
Department of Clinical Immunology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226014, India. aa.amita@gmail.com.
Amita
A
Aggarwal
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000626:Aminopeptidases / Q000235:genetics* / Q000378:metabolism; D001171:Arthritis, Juvenile / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D015778:Minor Histocompatibility Antigens / Q000235:genetics* / Q000378:metabolism; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence; D055815:Young Adult
D015778:Minor Histocompatibility Antigens; D004247:DNA; D000626:Aminopeptidases; C464841:ERAP1 protein, human
Ankylosing spondylitis; Genetics; Juvenile idiopathic arthritis; Methodology; Rheumatic diseases; Spondyloarthritis