title: TNFR1 -383 A˃C polymorphism and ankylosing spondylitis in a Russian Caucasian population: a preliminary study.
abstract: The aim of this study was to assess the association between the TNFR1 rs2234649 polymorphism and ankylosing spondylitis susceptibility in a Russian Caucasian population. A total of 41 ankylosing spondylitis patients and 43 healthy controls, matched according to age and sex, were enrolled, and polymerase chain reaction-restriction fragment length polymorphism analysis was used to genotype the rs2234649 variant. We evaluated genotype distributions in the patient and control groups with the chi-square test, and assessed the relationship between genotypes and ankylosing spondylitis using the odds ratio. Our analysis showed that the rs2234649 polymorphism does not increase ankylosing spondylitis risk. In conclusion, the TNFR1 gene polymorphism tested does not appear to be useful for assessing predisposition to this disease or for its diagnosis or prognosis.
authors.affiliation: Department of Internal Diseases N.1, Krasnoyarsk State Medical University, Krasnoyarsk, Russia.
authors.forename: V
authors.initials: V
authors.lastname: Mordovskii
authors.affiliation: Russia-Italy Laboratory of Medical Genetics MAGI-Russia, Research Institute of Molecular Medicine & Pathobiochemistry, Krasnoyarsk State Medical University named after Prof. V.F. Voino-Yasenetsky, Krasnoyarsk, Russia.
authors.forename: A
authors.initials: A
authors.lastname: Semenchukov
authors.affiliation: Department of Internal Diseases N.1, Krasnoyarsk State Medical University, Krasnoyarsk, Russia.
authors.forename: S Y
authors.initials: SY
authors.lastname: Nikulina
authors.affiliation: Department of Biochemistry, Research Institute of Medical, Pharmaceutical and Toxicological Chemistry, Krasnoyarsk State Medical University named after Prof. V.F. Voino-Yasenetsky, Krasnoyarsk, Russia.
authors.forename: A B
authors.initials: AB
authors.lastname: Salmina
authors.affiliation: Department of Internal Diseases N.1, Krasnoyarsk State Medical University, Krasnoyarsk, Russia.
authors.forename: A
authors.initials: A
authors.lastname: Chernova
authors.affiliation: Department of Internal Diseases N.1, Krasnoyarsk State Medical University, Krasnoyarsk, Russia.
authors.forename: E
authors.initials: E
authors.lastname: Kapustina
authors.affiliation: Department of Internal Diseases N.1, Krasnoyarsk State Medical University, Krasnoyarsk, Russia.
authors.forename: A
authors.initials: A
authors.lastname: Kents
authors.affiliation: Department of Internal Diseases N.1, Krasnoyarsk State Medical University, Krasnoyarsk, Russia.
authors.forename: A
authors.initials: A
authors.lastname: Ohapkina
authors.affiliation: Department of Internal Diseases N.1, Krasnoyarsk State Medical University, Krasnoyarsk, Russia.
authors.forename: E
authors.initials: E
authors.lastname: Moskaleva
authors.affiliation: MAGI Non-Profit Human Medical Genetics Institute, Rovereto, Italy.
authors.forename: P E
authors.initials: PE
authors.lastname: Maltese
authors.affiliation: MAGI Non-Profit Human Medical Genetics Institute, Rovereto, Italy paolo.convertini@assomagi.org.
authors.forename: P
authors.initials: P
authors.lastname: Convertini
authors.affiliation: MAGI Non-Profit Human Medical Genetics Institute, Bolzano, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Bertelli
mesh_terms: D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D010865:Pilot Projects; D020641:Polymorphism, Single Nucleotide; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics* / Q000378:metabolism; D012426:Russia; D013167:Spondylitis, Ankylosing / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: D047888:Receptors, Tumor Necrosis Factor, Type I