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


 Collectins are a family of C-type lectins found in vertebrates. These proteins have four regions, a relatively short N-terminal region, a collagen-like region, an alpha-helical coiled coil, and a carbohydrate recognition domain. Collectins are involved in host defense through their ability to bind carbohydrate antigens on microorganisms. Type A scavenger receptors are classical-type scavenger receptors that also have collagen-like domains. We previously described a new scavenger receptor, collectin from placenta [collectin placenta 1 (CL-P1)]. CL-P1 is a type II membrane protein with all four regions. We found that CL-P1 can bind and phagocytize both bacteria and yeast. In addition to that, it reacts with oxidized low-density lipoprotein (LDL) but not with acetylated LDL. These results suggest that CL-P1 might play important roles in host defenses and/or atherosclerosis formation. One rational strategy to study the role of CL-P1 in these pathological conditions would be to perform a haplotype association study using human samples. As a first step for this strategy, we analyzed the haplotype structure of the CL-P1 gene. By sequencing the CL-P1 gene in ten Japanese volunteers, we identified five single-nucleotide polymorphisms (SNPs) with a minor allele frequency of at least 29%. To obtain SNPs in the 5′-upstream region of the gene, we screened a total of 20 SNPs described in the database and finally picked up one SNP for the present study. Thus, a total of six SNPs, one in the 5′-upstream region, two in intron 2, one in exon 5, and two in exon 6, were used 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 (r 2 > 0.5) with each other. This haplotype information may be useful in disease-association studies in which a contribution of the CL-P1 gene has been suspected, especially in immunological disturbance or atherosclerosis. Two SNPs in exon 6, both leading to amino acid substitutions, could be candidates for influencing disease susceptibility.

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Received: September 12, 2002 / Accepted: November 12, 2002

Present address Department of Public Health, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba 260-8670, Japan. Tel. +81-43-226-2067; Fax +81-43-226-2070 e-mail: ahata@med.m.chiba-u.ac.jp

Acknowledgments We are grateful to Katsura Nakanishi and Ayako Sado for their technical assistance. This work was supported by Grant-in-Aid for Scientific Research on Priority Areas (C) “Medical Genome Science” from the Ministry of Education, Culture, Sports, Science, and Technology of Japan.

Correspondence to:A. Hata

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Ohmori, H., Makita, Y., Funamizu, M. et al. Haplotype analysis of the human collectin placenta 1 (hCL-P1) gene. J Hum Genet 48, 82–85 (2003). https://doi.org/10.1007/s100380300011

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  • Key words Single-nucleotide polymorphisms
  • Linkage disequilibrium
  • Haplotype
  • Collectin
  • Japanese population
  • Host defense
  • Amino acid substitution
  • Atherosclerosis

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