title: Association of MBL gene polymorphisms with major bacterial infection in patients treated with high-dose chemotherapy and autologous PBSCT.
abstract: A growing body of evidence indicates that genetic factors are involved in an increased risk of infection. We investigated whether mannose-binding lectin (MBL) gene polymorphisms that cause low levels of MBL are associated with the occurrence of major infections in patients, mainly bearing hematological malignancies, after high-dose chemotherapy (HDT) rescued by autologous peripheral blood stem cell transplantation (auto-PBSCT). A retrospective evaluation of 113 patients treated with HDT and auto-PBSCT revealed that the low-producing genotypes, B/B and B/LXA, were associated with major bacterial infection (P=0.0016, OR 7.9). We next performed a nation-wide large-scale study to assess the allele frequency of the MBL coding mutation in a total of 2623 healthy individuals in Japan. The frequency of allele B was estimated to be approximately 0.2, almost the same in seven different areas of Japan. This common occurrence suggests that MBL deficiency may play an important role in the clinical settings of immunosuppression.
authors.affiliation: Department of Medicine and Biosystemic Science, Kyushu University Graduate School of Medical Sciences, Fukuoka, Japan. horiuchi@intmed1.med.kyushyu-u.ac.jp
authors.forename: T
authors.initials: T
authors.lastname: Horiuchi
authors.forename: H
authors.initials: H
authors.lastname: Gondo
authors.forename: H
authors.initials: H
authors.lastname: Miyagawa
authors.forename: J
authors.initials: J
authors.lastname: Otsuka
authors.forename: S
authors.initials: S
authors.lastname: Inaba
authors.forename: K
authors.initials: K
authors.lastname: Nagafuji
authors.forename: K
authors.initials: K
authors.lastname: Takase
authors.forename: H
authors.initials: H
authors.lastname: Tsukamoto
authors.forename: T
authors.initials: T
authors.lastname: Koyama
authors.forename: H
authors.initials: H
authors.lastname: Mitoma
authors.forename: Y
authors.initials: Y
authors.lastname: Tamimoto
authors.forename: Y
authors.initials: Y
authors.lastname: Miyagi
authors.forename: T
authors.initials: T
authors.lastname: Tahira
authors.forename: K
authors.initials: K
authors.lastname: Hayashi
authors.forename: C
authors.initials: C
authors.lastname: Hashimura
authors.forename: S
authors.initials: S
authors.lastname: Okamura
authors.forename: M
authors.initials: M
authors.lastname: Harada
mesh_terms: D000483:Alleles; D001424:Bacterial Infections / Q000209:etiology / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D019337:Hematologic Neoplasms / Q000150:complications / Q000628:therapy*; D006801:Humans; D008297:Male; D037601:Mannose-Binding Lectin / Q000235:genetics*; D036102:Peripheral Blood Stem Cell Transplantation; D011110:Polymorphism, Genetic; D014184:Transplantation, Homologous
chemical_list: D037601:Mannose-Binding Lectin