title: Investigation of Toll-Like Receptor-2 (2258G/A) and Interferon Gamma (+874T/A) Gene Polymorphisms among Infertile Women with Female Genital Tuberculosis.
abstract: BACKGROUND
  Toll-like receptor 2 (TLR2) and interferon-gamma (IFN-γ) coordinate with a diverse array of cellular programs through the transcriptional regulation of immunologically relevant genes and play an important role in immune system, reproductive physiology and basic pathology. Alterations in the functions of TLR2 2258G (guanine)/ A, IFN-γ (+874T/A) and signalling molecules that result from polymorphisms are often associated with susceptibility or resistance, which may, in turn, establish the innate host response to various infectious diseases. Presently, we proposed to investigate the risk of common single nucleotide polymorphism (SNP) of TLR2 and IFN-γ genes, for their effect on infertility in women with female genital tuberculosis (FGTB) and healthy women as controls.
  
  
  RESULTS
  Genotyping of TLR2 and IFN-γ gene polymorphisms was performed by amplification refractory mutation system multi-gene/multi-primer polymerase chain reaction followed by restriction fragment length polymorphism in 175 FGTB patients and 100 healthy control women (HCW). The TLR2 polymorphism [adenine (A) allele] was observed in 57.7 and 58.0% of FGTB patients and HCW, respectively. The IFN-γ (+874T/A) polymorphism (A allele) was significant in 74.3 and 71.0% of FGTB patients and HCW, respectively, while the odds ratios for the AA and TA genotypes for predisposition of FGTB were found to be 0.304 and 1.650 in HCW, respectively. The SNP of TLR2 was not associated with FGTB but the SNP of IFN-γ was found to be associated with mycobacteria infections and to induce infertility.
  
  
  CONCLUSIONS
  At present, we hypothesize that infertile women with FGTB and HCW without tuberculosis (TB) have identical frequency of TLR variants, which may be adequate in the production of IFN-γ in response to Mycobacterium tuberculosis infections. Thus, the study appears to be the first of its kind reporting a mutation in the IFN-γ gene [+874 T (thymine) to A] responsible for susceptibility to TB infections and further inducing infertility.
authors.affiliation: Department of Zoology, University College of Science, Osmania University, Hyderabad, Telangana State, India.
authors.forename: Venkanna
authors.initials: V
authors.lastname: Bhanothu
authors.affiliation: Department of Microbiology, Nizam's Institute of Medical Sciences, Hyderabad, Telangana State, India.
authors.forename: Vemu
authors.initials: V
authors.lastname: Lakshmi
authors.affiliation: Department of Zoology, University College of Science, Osmania University, Hyderabad, Telangana State, India.
authors.forename: Jane P
authors.initials: JP
authors.lastname: Theophilus
authors.affiliation: Department of Obstetrics and Gynecology, Owaisi Hospital & Research Centre, Hyderabad, Telangana State, India.
authors.forename: Roya
authors.initials: R
authors.lastname: Rozati
authors.affiliation: Department of Genetics, University College of Science, Osmania University, Hyderabad, Telangana State, India.
authors.forename: Prabhakar
authors.initials: P
authors.lastname: Badhini
authors.affiliation: Department of Obstetrics and Gynecology, Owaisi Hospital & Research Centre, Hyderabad, Telangana State, India.
authors.forename: Boda
authors.initials: B
authors.lastname: Vijayalaxmi
mesh_terms: D000328:Adult; D000483:Alleles; D001706:Biopsy; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007194:India; D007247:Infertility, Female / Q000209:etiology*; D007371:Interferon-gamma / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D051195:Toll-Like Receptor 2 / Q000235:genetics*; D014384:Tuberculosis, Female Genital / Q000150:complications* / Q000235:genetics* / Q000382:microbiology / Q000473:pathology; D055815:Young Adult
chemical_list: D051195:Toll-Like Receptor 2; D007371:Interferon-gamma