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Showing content from https://link.springer.com/doi/10.1007/s00439-002-0851-y below:

Novel immunoglobulin superfamily gene cluster, mapping to a region of human chromosome 17q25, linked to psoriasis susceptibility

Chromosome 17q25 harbors a susceptibility locus for psoriasis (PSORS2). This locus may overlap with loci for atopic dermatitis and rheumatoid arthritis. To further refine the location of PSORS2, we genotyped 242 primarily nuclear families for 15 polymorphic microsatellites mapping to chromosome 17q23-q25. Non-parametric linkage analysis revealed a linkage peak lying close to a novel cluster of genes from the immunoglobulin (Ig) superfamily. This cluster spans >250 kb and harbors five CMRF35-like genes and a sixth inhibitory receptor (CMRF35H) with three ITIM motifs that is transcribed in the opposite direction from the rest. The Ig domains encoded by these genes are most similar to those of the TREM (triggering receptor expressed selectively in myeloid cells) molecules, NKp44 and the polymeric immunoglobulin receptor. CMRF35-like genes are only expressed in sub-populations of cells of the myeloid lineage. In order to investigate the association of this region with psoriasis, we genotyped the families for 13 novel microsatellites and 19 SNPs from the region of linkage. A maximum NPL of 1.6 (P=0.05) was obtained within the interval. Two SNP-based haplotypes revealed some evidence for association with psoriasis. One spanned CMRF35H and includes a non-synonymous polymorphism within CMRF35H (R111Q) (TDT P=0.03). The second was a three-locus haplotype lying within the first intron of CMRF35A2 (TREM5) (TDT P=0.04). The novel markers described here will facilitate additional linkage and association studies between the CMRF35 family and disease.

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1. Departments of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA, , , , ,

   Rebecca A. Speckman, Jil A. Wright Daw, Cynthia Helms, Li Cao & Anne M. Bowcock

2. Division of Dermatology, Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA, , , , ,

   Shenghui Duan, Patricia Taillon-Miller & Pui-Yan Kwok

3. Department of Internal Medicine, Division of Dermatology, Baylor University Medical Center, Dallas, TX 75246, USA, , , , ,

   Alan Menter

1. Rebecca A. Speckman
2. Jil A. Wright Daw
3. Cynthia Helms
4. Shenghui Duan
5. Li Cao
6. Patricia Taillon-Miller
7. Pui-Yan Kwok
8. Alan Menter
9. Anne M. Bowcock

Electronic Publication

Speckman, R.A., Wright Daw, J.A., Helms, C. et al. Novel immunoglobulin superfamily gene cluster, mapping to a region of human chromosome 17q25, linked to psoriasis susceptibility. Hum Genet 112, 34–41 (2003). https://doi.org/10.1007/s00439-002-0851-y

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• Received: 08 July 2002

• Accepted: 12 September 2002

• Issue Date: January 2003

• DOI: https://doi.org/10.1007/s00439-002-0851-y

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