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 log10 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 log10 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 log10 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.
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Acknowledgments
We thank our collaborating physicians for helping us during sample collection. We also thank all patients and their family members for participating in this study. The financial support from the Task Force Project SMM 0006 of the Council of Scientific and Industrial Research (CSIR), Govt. of India is greatly acknowledged. MS, KM and JB acknowledge CSIR for their fellowships. The help provided by Rana Nagarkatti, Abha Soni, Tej Pratap Singh and Deepti Mann is sincerely acknowledged.
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Supplementary Table 1: Details of primers used to amplify thirteen simple repeat regions identified by the RepeatMasker program (DOC 42.0 KB)
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Sharma, M., Mehla, K., Batra, J. et al. 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. J Hum Genet 52, 378–383 (2007). https://doi.org/10.1007/s10038-007-0118-5
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DOI: https://doi.org/10.1007/s10038-007-0118-5
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