title: Genetic contribution of tumor necrosis factor (TNF)-alpha gene promoter (-1031, -863 and -857) and TNF receptor 2 gene polymorphisms in endometriosis susceptibility.
abstract: OBJECTIVE
  Tumor necrosis factor (TNF)-alpha is a major cytokine involved in inflammatory and immune function. The aim of this study was to investigate whether polymorphisms at positions -1031, -863 and -857 in the TNF gene promoter region (TNFA) and TNF receptor type 2 gene (TNFR2) are responsible in part for genetic susceptibility to endometriosis.
  
  
  METHODS
  TNFA and TNFR2 polymorphisms were determined in 123 patients with endometriosis and 165 fertile healthy women by the polymerase chain reaction (PCR) - preferential homoduplex formation assay and PCR-restriction fragment length polymorphism, respectively.
  
  
  RESULTS
  The frequency of the TNFA-U01 haplotype was increased significantly in patients with endometriosis compared with controls (P = 0.045, OR = 1.45). The TNFA-U01 haplotype was strongly associated with HLA-B*0702. No difference was found in TNFR2 polymorphism between patients and controls.
  
  
  CONCLUSIONS
  Our results indicated that TNFA promoter polymorphism was associated with susceptibility to endometriosis. However, this association was not independent of HLA-class I polymorphisms.
authors.affiliation: Department of Obstetrics and Gynecology, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kyoto, Japan.
authors.forename: Mariko
authors.initials: M
authors.lastname: Teramoto
authors.forename: Jo
authors.initials: J
authors.lastname: Kitawaki
authors.forename: Hisato
authors.initials: H
authors.lastname: Koshiba
authors.forename: Yui
authors.initials: Y
authors.lastname: Kitaoka
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Obayashi
authors.forename: Goji
authors.initials: G
authors.lastname: Hasegawa
authors.forename: Naoto
authors.initials: N
authors.lastname: Nakamura
authors.forename: Toshikazu
authors.initials: T
authors.lastname: Yoshikawa
authors.forename: Masaki
authors.initials: M
authors.lastname: Matsushita
authors.forename: Etsuko
authors.initials: E
authors.lastname: Maruya
authors.forename: Hiroh
authors.initials: H
authors.lastname: Saji
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Ohta
authors.forename: Hideo
authors.initials: H
authors.lastname: Honjo
mesh_terms: D000328:Adult; D015703:Antigens, CD / Q000235:genetics*; D016022:Case-Control Studies; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D003627:Data Interpretation, Statistical; D004715:Endometriosis / Q000145:classification / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D015235:HLA-B Antigens / Q000235:genetics; D015793:HLA-B7 Antigen; D006239:Haplotypes / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007962:Leukocytes / Q000378:metabolism; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics; D018124:Receptors, Tumor Necrosis Factor / Q000235:genetics*; D047889:Receptors, Tumor Necrosis Factor, Type II; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics*
chemical_list: D015703:Antigens, CD; D015235:HLA-B Antigens; C477444:HLA-B*07:02 antigen; D015793:HLA-B7 Antigen; D018124:Receptors, Tumor Necrosis Factor; D047889:Receptors, Tumor Necrosis Factor, Type II; D014409:Tumor Necrosis Factor-alpha; D004247:DNA