Interleukin 11 (IL11) is a member of the interleukin 6 (IL6)-related cytokine subfamily, which stimulates T cell-dependent
development of immunoglobulin-producing B cells. IL11 is also an important paracrine regulator of bone metabolism that induces
formation of osteoclasts. In the work reported here, we sequenced the entire
IL11 structural gene of 48 alleles in a Japanese test population. These experiments identified ten single-nucleotide polymorphisms
(SNPs) and determined their allelic frequencies. One polymorphism was identified upstream of exon 1, one in exon 3, four in
intron 4 and four in the 3′ untranslated region (3′UTR) of exon 5. Based on the genotype data, we constructed six haplotypes
in the tested population. Two-way comparisons of SNPs revealed two combinations in complete linkage disequilibrium, one with
SNPs at nucleotide positions 2753, 3644, 5154, and 5568, and another with SNPs at positions 3686, 5141, and 5734. These results
will be useful in disease-association studies where a contribution of the human
IL11 gene has been suspected, especially in disorders affecting immune response and bone metabolism.
Key words Single-nucleotide polymorphism - Japanese population - Direct sequencing - Cytokine - Inflammation - Bone metabolism - Linkage disequilibrium
Received: March 23, 2001 / Accepted: May 2, 2001