title: Association of a chromosome 1q21 locus in close proximity to a late cornified envelope-like proline-rich 1 (LELP1) gene with total serum IgE levels.
abstract: The chromosomal region 1q21 has been linked to atopic dermatitis in previous studies. Seven polymorphic repeats were identified in a 0.5 Mb region of chromosome 1q21 encompassing a small proline-rich protein (SPRR) gene cluster, a few S100 gene family members, loricin, and several uncharacterized genes. These repeats were genotyped by fragment length polymorphism analysis in 133 atopic case-parent trios, of which 111 probands had atopic asthma. Our trio-based analysis for association with atopy and atopic asthma revealed no significant allelic or genotypic association for any of the seven loci tested. However, a significant association was observed with locus 5 (3.65 Mb of contig NT_032962) and log(10) serum IgE levels (F = 3.93, P = 0.0008). Results were also replicated in an independent case-control cohort (N (p) = 165, N (c) = 166), where a significant association with log(10) serum IgE levels was observed in the patient group (P = 0.0005). Interestingly, locus 5 is 6.2 kb upstream of a late cornified envelope-like proline-rich 1 (LELP1) gene which encodes a novel small proline rich protein. Further, we have also found a significant association of rs7534334 (tagged SNP from LELP1) SNP with log(10) serum IgE levels in the patient group (P = 0.0029). Thus, our results identify a chromosomal region in close proximity to a novel gene and highlight the need for intense research on LELP1 and other genes close by with respect to atopic disorders.
authors: Molecular Immunogenetics Laboratory, Institute of Genomics and Integrative Biology, Mall Road, Delhi, 110007, India.
authors: Mamta
authors: M
authors: Sharma
authors: Molecular Immunogenetics Laboratory, Institute of Genomics and Integrative Biology, Mall Road, Delhi, 110007, India.
authors: Kamiya
authors: K
authors: Mehla
authors: Molecular Immunogenetics Laboratory, Institute of Genomics and Integrative Biology, Mall Road, Delhi, 110007, India.
authors: Jyotsna
authors: J
authors: Batra
authors: Molecular Immunogenetics Laboratory, Institute of Genomics and Integrative Biology, Mall Road, Delhi, 110007, India. bghosh@igib.res.in.
authors: Balaram
authors: B
authors: Ghosh
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D001249:Asthma / Q000235:genetics* / Q000276:immunology; D002648:Child; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D055233:Cornified Envelope Proline-Rich Proteins; D005260:Female; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood*; D008297:Male; D011506:Proteins / Q000235:genetics*; D012130:Respiratory Hypersensitivity / Q000235:genetics* / Q000276:immunology
chemical_list: D055233:Cornified Envelope Proline-Rich Proteins; C520829:LELP1 protein, human; D011506:Proteins; D007073:Immunoglobulin E