Linkage disequilibrium and haplotype analysis among ten single-nucleotide polymorphisms of interleukin 11 identified by sequencing of the gene

Interleukin 11 (IL11) is a member of the interleukin 6 (IL6)-related cytoki ne subfamily, which stimulates T cell-dependent development of immunoglobul in-producing B cells. IL11 is also an important paracrine regulator of bone metabolism that induces formation of osteoclasts. In the work reported her e, we sequenced the entire IL11 structural gene of 48 alleles in a Japanese test population. These experiments identified ten single-nucleotide polymo rphisms (SNPs) and determined their allelic frequencies. One polymorphism w as 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 d ata, we constructed six haplotypes in the tested population. Two-way compar isons of SNPs revealed two combinations in complete linkage disequilibrium, one with SNPs at nucleotide positions 2753, 3644, 5154, and 5568, and anot her with SNPs at positions 3686, 5141, and 5734. These results will be usef ul in disease-association studies where a contribution of the human IL11 ge ne has been suspected, especially in disorders affecting immune response an d bone metabolism.