title: The +1858 C/T Polymorphism in the PTPN22 Gene Is Associated with Cystic Fibrosis Patients in Northeast Mexico.
abstract: Cystic fibrosis (CF) is the most common autosomal recessive disease in the Caucasian population, but it has also been widely diagnosed in the Mexican population. Production of viscous secretions affects the secretory epithelia and the respiratory condition usually leads to death. The relationship between the CFTR genotype and the disease phenotype is not well understood. Other risk factors such as genetic and autoimmune influence the development of this disease. We analyzed the PTPN22 R620W polymorphism (+1858 C/T, rs2476601) in 78 DNA samples from CF patients and 232 healthy controls from northeast Mexico using the polymerase chain reaction-restriction fragment length (PCR-RFLP) method. The C allele and the CC genotype were the most frequently detected in controls (CC genotype 96.12%; C allele 98.06%) compared with CF patients (CC genotype 88.46%, C allele 93.59%). A statistically significant association for the CT + TT genotypes (p = 0.012, OR = 3.232) as well as for the mutant T allele (p = 0.005, OR = 3.463) was found when comparing CF patients with controls. A significant association was found between the rs2476601 polymorphism of the PTPN22 gene and CF in Mexican patients. Further studies are necessary to understand the influence of this variant on lung neutrophil function and disease development.
authors.affiliation: Facultad de Medicina Unidad Saltillo, Universidad Autónoma de Coahuila, Saltillo, Coahuila, México.
authors.forename: Mauricio A
authors.initials: MA
authors.lastname: Salinas-Santander
authors.affiliation: Facultad de Ciencias Químicas, Universidad Autónoma de Chiapas, Tapachula, Chiapas, México.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Bazan-Mendoza
authors.affiliation: Facultad de Ciencias Químicas, Universidad Autónoma de Chiapas, Tapachula, Chiapas, México.
authors.forename: Marisol
authors.initials: M
authors.lastname: Espinoza-Ruiz
authors.affiliation: Unidad de Biología Molecular, Genómica y Secuenciación, Centro de Investigación y Desarrollo en Ciencias de la Salud (CIDICS), Universidad Autónoma de Nuevo León, Monterrey, Nuevo León, México; Escuela de Medicina, Tecnológico de Monterrey. Monterrey, Nuevo León, México.
authors.forename: Rocio
authors.initials: R
authors.lastname: Ortiz-Lopez
authors.affiliation: Clínica de Fibrosis Quística, Centro de Prevención y Rehabilitación de Enfermedades Pulmonares Crónicas (CEPREP), Hospital Universitario Dr. José Eleuterio González, Universidad Autónoma de Nuevo León, Monterrey, Nuevo León, México.
authors.forename: Adriana
authors.initials: A
authors.lastname: Bustamante
authors.affiliation: Departamento de Bioquímica y Medicina Molecular, Universidad Autónoma de Nuevo León, Monterrey, Nuevo León, México. Electronic address: celianohemi@hotmail.com.
authors.forename: Celia N
authors.initials: CN
authors.lastname: Sanchez-Dominguez
mesh_terms: D000293:Adolescent; D016022:Case-Control Studies; D002648:Child; D003550:Cystic Fibrosis / Q000235:genetics*; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008800:Mexico; D020641:Polymorphism, Single Nucleotide; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics*; D012307:Risk Factors; D055815:Young Adult
chemical_list: C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22
keywords: +1858 C/T PTPN22; Autoimmune diseases; Cystic fibrosis; Mexican population; PCR-RFLP