RESUMEN
This study investigated the association of seven widely known DNA repair gene polymorphisms (hOGG1 Ser326Cys, XRCC1 Arg194Trp, XRCC1 Arg280His, XRCC1 Arg399Gln, XPC Val499Ala, XPD Lys751Gln and ERCC1 Cys8092Ala) with dietary and environmental factors for Nasopharyngeal Carcinoma (NPC) susceptibility in Nagaland of Northeast India. The genotypes were determined in 128 NPC patients and 180 healthy controls by PCR-RFLP. XRCC1 Arg280His, XPC Val499Ala and ERCC1 Cys8092Ala were found to be associated with NPC risk. Tobacco smoking and burning of firewood for cooking were also found to be a risk factor for NPC. The haplotype analysis of five single-nucleotide polymorphisms (SNPs) XRCC1 Arg194Trp, XRCC1 Arg280His, XRCC1 Arg399Gln, XPD Lys751Gln and ERCC1 Cys8092Ala identified haplotype TGAAC to be significantly associated with NPC. Multifactor dimensionality reduction (MDR) analysis suggested ERCC1 Cys8092Ala to be the best one-factor model that could predict NPC risk. From this study, we conclude that examining the synergistic interactions of various gene-environmental factors together is a better approach to understand NPC susceptibility, instead of their individual effects.
Asunto(s)
Dieta , Predisposición Genética a la Enfermedad , Exposición por Inhalación , Carcinoma Nasofaríngeo/genética , Neoplasias Nasofaríngeas/genética , Polimorfismo de Nucleótido Simple , Ventilación , Adulto , Anciano , Anciano de 80 o más Años , Estudios de Casos y Controles , Culinaria , Reparación del ADN/genética , Femenino , Estudios de Asociación Genética , Haplotipos , Humanos , India/epidemiología , Masculino , Persona de Mediana Edad , Carcinoma Nasofaríngeo/epidemiología , Neoplasias Nasofaríngeas/epidemiología , Factores de Riesgo , Adulto JovenRESUMEN
PURPOSE: Interleukin-8 (IL8), Interleukin-12 (IL12) and Interleukin-13 (IL13) are cytokines that play regulatory role in cancer pathogenesis. We analysed their expression profile to evaluate as molecular biomarkers of esophageal squamous cell carcinoma (ESCC) and their association with different parameters and patient survival. METHODS: Expression analysis was performed by Real time quantitative polymerase chain reaction and receiver operating characteristic (ROC) curve analysis was done. The expression profiles were associated with different clinicopathological and dietary factors. Survival and hazard analysis were also performed. RESULTS: IL8 expression showed upregulation in tissue (p = 0.000) and blood samples (p = 0.481), IL12 expression showed downregulation in tissue samples (p = 0.064) and upregulation in blood samples (p = 0.689) and IL13 expression showed upregulation in tissue (p = 0.000) and blood samples (p = 0.006). IL13 expression in tissue showed the highest area under the curve (AUC) value (0.773) for ESCC diagnosis, followed by IL8 expression in tissue (0.704) and IL13 expression in blood (0.643). This study also reveals the correlation of studied cytokines in tissue and blood level. Different clinicopathological and dietary factors showed significant association (p < 0.05) with IL8, IL12 and IL13 expression and with survival of ESCC patients. IL8 expression in blood and IL12 expression in tissue and blood showed significant association (p < 0.05) with patient survival. CONCLUSION: Altered expression of IL8, IL12 and IL13 may be associated with ESCC progression. Overexpression of IL8 and IL13 in tissue samples may be potential biomarkers for ESCC screening. Additionally, both survival and hazard analysis data indicate the effects of different parameters on the prognosis of ESCC patients.
RESUMEN
HLA-C*08:01:01:05 differs from HLA-C*08:01:01:02 by one nucleotide deletion (T > -) at position 674 in intron 2.
Asunto(s)
Antígenos HLA-C , Polimorfismo de Nucleótido Simple , Alelos , Antígenos HLA-C/genética , Humanos , India , Intrones/genéticaRESUMEN
A single nucleotide change (C to T) in HLA-DQB1*01:03:01:03 results in the novel allele, HLA-DPA1*01:03:01:21.
Asunto(s)
Cadenas alfa de HLA-DP , Alelos , Cadenas alfa de HLA-DP/genética , Humanos , IndiaRESUMEN
HLA-DQB1*05:03:01:04 differs from HLA-DQB1*05:03:01:01 by one nucleotide substitution at position 5075 (A>G).
Asunto(s)
Alelos , Cadenas beta de HLA-DQ/genética , Humanos , IndiaRESUMEN
HLA-DQB1*03:01:01:07, intron 1 [1217(AâG)] and intron 2 [2138 (TâC)] substitutions generate HLA-DQB1*03:01:01:23 and HLA-DQB1*03:01:01:24, respectively.
Asunto(s)
Alelos , Cadenas beta de HLA-DQ/genética , Humanos , India , Intrones/genéticaRESUMEN
One nucleotide substitution (C>T) in intron 1 of HLA-C*03:04:01:02 results in the novel allele, HLA-C*03:04:01:38.
Asunto(s)
Genes MHC Clase I , Antígenos HLA-C , Alelos , Antígenos HLA-C/genética , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , India , Intrones/genéticaRESUMEN
One nucleotide substitution (G>A) in codon 41 of HLA-C*04:03:01:01 results in the novel allele, HLA-C*04:400.
Asunto(s)
Genes MHC Clase I , Antígenos HLA-C , Alelos , Codón , Antígenos HLA-C/genética , Humanos , IndiaRESUMEN
One nucleotide substitution (C>T) in codon 228 of HLA-C*04:06:01 results in the novel allele, HLA-C*04:06:03.
Asunto(s)
Antígenos HLA-C , Mutación Silenciosa , Alelos , Codón , Antígenos HLA-C/genética , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , IndiaRESUMEN
One nucleotide substitution (A>T) in intron 1 of HLA-DPA1*02:01:01:02 results in the novel allele, HLA-DPA1*02:01:01:12.
Asunto(s)
Cadenas alfa de HLA-DP , Alelos , Cadenas alfa de HLA-DP/genética , Humanos , India , Intrones/genéticaRESUMEN
One nucleotide substitution in codon 127 of HLA-DQB1*03:01:01:07 results in the novel allele, HLA-DQB1*03:404.
Asunto(s)
Alelos , Exones/genética , Cadenas beta de HLA-DQ/genética , Humanos , IndiaRESUMEN
A single nucleotide change (T to C) in HLA-B*15:02:01:01 results in the novel allele, HLA-B*15:02:01:04.
Asunto(s)
Genes MHC Clase I , Antígenos HLA-B , Alelos , Antígenos HLA-B/genética , Humanos , IndiaRESUMEN
Thirteen nucleotide substitutions in intron 1 of HLA-DPA1*02:01:01:09 results in a novel allele, HLA-DPA1*02:01:01:13.
Asunto(s)
Cadenas alfa de HLA-DP , Alelos , Cadenas alfa de HLA-DP/genética , Humanos , India , Intrones/genéticaRESUMEN
One nucleotide substitution (C > G) in 3'-UTR of HLA-C*04:01:01:01 results in the novel allele, HLA-C*04:01:01:78.
Asunto(s)
Genes MHC Clase I , Antígenos HLA-C , Alelos , Antígenos HLA-C/genética , Humanos , IndiaRESUMEN
A single nucleotide change in HLA-DPA1*01:03:01:01 results in the novel null allele, HLA-DPA1*01:29N.
Asunto(s)
Cadenas alfa de HLA-DP , Alelos , Cadenas alfa de HLA-DP/genética , Humanos , IndiaRESUMEN
Two nucleotide changes in the 3'-UTR of HLA-C*07:02:01:01 results in the novel allele, HLA-C*07:02:01:97.
Asunto(s)
Genes MHC Clase I , Antígenos HLA-C , Alelos , Frecuencia de los Genes , Antígenos HLA-C/genética , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , IndiaRESUMEN
A single nucleotide change (C to T) in HLA-B*38:02:01 results in the novel allele, HLA-B*38:02:01:02.
Asunto(s)
Genes MHC Clase I , Antígenos HLA-B , Alelos , Antígenos HLA-B/genética , Humanos , IndiaRESUMEN
Two nucleotide changes in the 3'untranslated region of HLA-C*07:06:01:01 results in the novel allele, HLA-C*07:06:01:06.
Asunto(s)
Genes MHC Clase I , Antígenos HLA-C , Alelos , Frecuencia de los Genes , Antígenos HLA-C/genética , Humanos , IndiaRESUMEN
A single nucleotide change (G to T) in HLA-B*13:01:01:01 results in the novel allele, HLA-B*13:01:01:03.
Asunto(s)
Pueblo Asiatico/etnología , Pueblo Asiatico/genética , Antígeno HLA-B13/genética , Alelos , Donantes de Sangre , Estudios de Cohortes , Etnicidad/genética , Frecuencia de los Genes , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , India/etnología , Análisis de Secuencia de ADNRESUMEN
One nucleotide change (G>A) at intron 1 of HLA-A*11:01:01:01 results in the novel allele, HLA-A*11:01:01:25.