title: Clinical features of Hispanic thyroid cancer cases and the role of known genetic variants on disease risk.
abstract: Thyroid cancer (TC) is the second most common cancer among Hispanic women. Recent genome-wide association (GWA) and candidate studies identified 6 single nucleotide polymorphisms (SNPs; rs966423, rs2439302, rs965513, rs6983267, rs944289, and rs116909374), associated with increased TC risk in Europeans but their effects on disease risk have not been comprehensively tested in Hispanics. In this study, we aimed to describe the main clinicopathological manifestations and to evaluate the effects of known SNPs on TC risk and on clinicopathological manifestations in a Hispanic population.We analyzed 281 nonmedullary TC cases and 1146 cancer-free controls recruited in a multicenter population-based study in Colombia. SNPs were genotyped by Kompetitive allele specific polymerase chain reaction (KASP) technique. Association between genetic variants and TC risk was assessed by computing odds ratios (OR) and confidence intervals (CIs).Consistent with published data in U.S. Hispanics, our cases had a high prevalence of large tumors (>2 cm, 43%) and a high female/male ratio (5:1). We detected significant associations between TC risk and rs965513A (OR = 1.41), rs944289T (OR = 1.26), rs116909374A (OR = 1.96), rs2439302G (OR = 1.19), and rs6983267G (OR = 1.18). Cases carried more risk alleles than controls (5.16 vs. 4.78, P = 4.8 × 10). Individuals with ≥6 risk alleles had >6-fold increased TC risk (OR = 6.33, P = 4.0 × 10) compared to individuals with ≤2 risk alleles. rs944289T and rs116909374A were strongly associated with follicular histology (ORs = 1.61 and 3.33, respectively); rs2439302G with large tumors (OR = 1.50); and rs965513A with regional disease (OR = 1.92).To our knowledge, this is the first study of known TC risk variants in South American Hispanics and suggests that they increase TC susceptibility in this population and can identify patients at higher risk of severe disease.
authors: Grupo de Citogenética, Filogenia y Evolución de Poblaciones, Facultad de Ciencias y Facultad de Ciencias de la Salud, Universidad del Tolima, Ibagué, Colombia Genome Center and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, CA Hospital Pablo Tobón Uribe, Medellín Hospital Federico Lleras Acosta, Ibagué Hospital Hernando Moncaleano Perdomo, Neiva Fundación de Genética y Genómica, Medellín, Colombia.
authors: Ana P
authors: AP
authors: Estrada-Florez
authors: Mabel E
authors: ME
authors: Bohórquez
authors: Ruta
authors: R
authors: Sahasrabudhe
authors: Rodrigo
authors: R
authors: Prieto
authors: Paul
authors: P
authors: Lott
authors: Carlos S
authors: CS
authors: Duque
authors: Jorge
authors: J
authors: Donado
authors: Gilbert
authors: G
authors: Mateus
authors: Fernando
authors: F
authors: Bolaños
authors: Alejandro
authors: A
authors: Vélez
authors: Magdalena
authors: M
authors: Echeverry
authors: Luis G
authors: LG
authors: Carvajal-Carmona
mesh_terms: D000328:Adult; D002277:Carcinoma / Q000208:ethnology / Q000235:genetics / Q000601:surgery; D002291:Carcinoma, Papillary; D015331:Cohort Studies; D003105:Colombia / Q000453:epidemiology; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology*; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D006630:Hispanic or Latino / Q000235:genetics*; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012189:Retrospective Studies; D000077273:Thyroid Cancer, Papillary; D013964:Thyroid Neoplasms / Q000208:ethnology* / Q000235:genetics* / Q000601:surgery; D014481:United States / Q000453:epidemiology