Dr Anna Rautanen

Research

My research interests are on genomic approaches to understand human genetic susceptibility to infectious diseases. There is a significant heritable component in susceptibility to infection as well as in the ability to recover from infectious illnesses, although the current understanding of the specific host genetic factors is limited.

In my research I aim to identify genes and pathways that contribute especially to bacterial disease susceptibility in large cohorts from Europe and Africa including invasive pneumococcal disease, sepsis (as part of the UK GAinS and the European GenOSept collaborations), and bacteraemia in Kenyan children (as part of the Wellcome Trust Cases Control Consortium 2), mainly by utilizing genome-wide association approach. In addition to these severe phenotypes, we are also studying milder lower-respiratory tract infections cohort (as part of the European GRACE project).

Although genome-wide association studies have been successful in identifying common variants, it is believed that also rare variants play an important role; we will continue these studies by using next generation sequencing. Identification of susceptibility loci for bacterial diseases is likely to have major implications for the study of infectious and inflammatory disease processes and may translate into clinical benefit, for example through the discovery of novel therapeutic targets.

Key Publications

Chapman SJ, Khor CC, Vannberg FO, Rautanen A, Walley A, Segal S, Moore CE, Davies RJ, Day NP, Peshu N, Crook DW, Berkley JA, Williams TN, Scott JA, Hill AV. Common NFKBIL2 polymorphisms and susceptibility to pneumococcal disease: a genetic association study. Crit Care. 14(6):R227, 2010.

Kubarenko AV, Ranjan S, Rautanen A, Mills TC, Wong S, Vannberg F, Neumaier M, Bekeredjian-Ding I, Hill AV, Ahmad-Nejad P, Weber AN. A naturally occurring variant in human TLR9, P99L, is associated with loss of CpG oligonucleotide responsiveness. J Biol Chem. 285(47):36486-94, 2010.

Khor CC, Vannberg FO, Chapman SJ, Guo H, Wong SH, Walley AJ, Vukcevic D, Rautanen A, Mills TC, Chang KC, Kam KM, Crampin AC, Ngwira B, Leung CC, Tam CM, Chan CY, Sung JJ, Yew WW, Toh KY, Tay SK, Kwiatkowski D, Lienhardt C, Hien TT, Day NP, Peshu N, Marsh K, Maitland K, Scott JA, Williams TN, Berkley JA, Floyd S, Tang NL, Fine PE, Goh DL, Hill AV. CISH and susceptibility to infectious diseases. N Engl J Med. 362(22):2092-101, 2010.

Chapman SJ, Khor CC, Vannberg FO, Rautanen A, Segal S, Moore CE, Davies RJ, Day NP, Peshu N, Crook DW, Berkley JA, Williams TN, Scott JA, Hill AV. NFKBIZ polymorphisms and susceptibility to pneumococcal disease in European and African populations. Genes Immun. 11(4):319-25, 2010.

Chapman SJ, Vannberg FO, Khor CC, Rautanen A, Maskell NA, Davies CW, Moore CE, Day NP, Crook DW, Davies RJ, Hill AV. Mannose-binding lectin genotypes: lack of association with susceptibility to thoracic empyema. BMC Med Genet. 11:5, 2010.