Document Detail


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.
MedLine Citation:
PMID:  17387579     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
Mamta Sharma; Kamiya Mehla; Jyotsna Batra; Balaram Ghosh
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-02-15
Journal Detail:
Title:  Journal of human genetics     Volume:  52     ISSN:  1434-5161     ISO Abbreviation:  J. Hum. Genet.     Publication Date:  2007  
Date Detail:
Created Date:  2007-03-27     Completed Date:  2007-07-03     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  9808008     Medline TA:  J Hum Genet     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  378-83     Citation Subset:  IM    
Affiliation:
Molecular Immunogenetics Laboratory, Institute of Genomics and Integrative Biology, Mall Road, Delhi, India.
Data Bank Information
Bank Name/Acc. No.:
RefSeq/NT_032962
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Alleles
Asthma / genetics*,  immunology
Child
Chromosomes, Human, Pair 1 / genetics*
Cornified Envelope Proline-Rich Proteins
Female
Humans
Immunoglobulin E / blood*
Male
Proteins / genetics*
Respiratory Hypersensitivity / genetics*,  immunology
Chemical
Reg. No./Substance:
0/Cornified Envelope Proline-Rich Proteins; 0/LELP1 protein, human; 0/Proteins; 37341-29-0/Immunoglobulin E

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