Haplotype analysis of the human collectin placenta 1 (hCL-P1) gene

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This is the author-created version of Springer, Ohmori, H; Makita, Y; Funamizu, M; Chiba, S; Ohtani, K; Suzuki, Y; Wakamiya, N; Hata, A, JOURNAL OF HUMAN GENETICS, 48(2), 2003, 82-85.鐃緒申The original publication is available at www.springerlink.com.Collectins are a family of C-type lectins that have collagen-like sequences and carbohydrate recognition domains (CRD). They are involved in host defense through their ability to bind to carbohydrate antigens of microorganisms. The scavenger receptors type A and macrophage receptor with collagenous structure are classical type scavenger receptors that have internal collagen-like domains. We previously described a new scavenger receptor that is membrane-type collectin from placenta (collectin placenta 1(CL-P1)). CL-P1 is a type II membrane protein, has a coiled coil region, a collagen-like domain, and a CRD. We found that CL-P1 can bind and phagocytes both bacteria and yeast. Furthermore, it reacts with oxidized low-density lipoprotein (OxLDL) but not with acetylated LDL (AcLDL). These results indicate that CL-P1 might play important roles in host defenses and/or atherosclerosis formation (Ohtani et al 2001). One rational strategy to study the role of CL-P1 in these pathological conditions would be a haplotype association study using human samples. As a first step for this strategy, we analyzed haplotype structure of the CL-P1 gene. Sequencing the CL-P1 gene region of ten Japanese volunteers identified five single-nucleotide polymorphisms (SNPs) with the minor allele frequency to be at least 29%. In order to obtain SNPs in the 5’-upstream region of the gene, total 20 SNPs described in publicly available database were screened, and we found one SNP out of 20 was useful for the present study. Thus, total six SNPs, one in 5’-upstream region, two in intron 2, one in exon 5, and two in exon 6, were employed to analyze the haplotype structure of the gene with DNAs derived from 54 individuals (108 alleles). The analysis revealed that only two of six SNPs showed significant linkage disequilibrium (r2>0.5) between each other. This haplotype information would be useful in disease-association studies where a contribution of CL-P1 gene has been suspected, especially in innate immunity defect or atherosclerosis. Two SNPs in exon 6, both lead to amino acid substitutions, could be attractive candidates to have some influence for disease susceptibility.
Springer-Verlag Tokyoの論文
2003-02-01

Haplotype analysis of the human collectin placenta 1 (hCL-P1) gene

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