RESUMEN
Background/aim: We evaluated the association of TLR2 (-196 to -174 Ins/Del) and TLR3 (1377 C>T) as potential risk factors for nasopharyngeal carcinoma (NPC) in Tunisians. Material and methods: The study subjects comprised 137 NPC patients and 164 cancer-free control subjects. TLR2 genotyping was done by PCR and TLR3 genotyping was performed by PCR-RFLP. Results: Minor allele frequency (MAF) and genotypes of TLR3 (1377 C>T) were comparable between NPC patients and controls. Significantly higher MAF and TLR2-containing Del allele genotypes of TLR2 (-196 to -174 Ins/Del) were seen in NPC patients compared to controls [OR (95% CI) = 2.10 (1.43-3.08), P < 0.001 and OR (95% CI) = 2.07 (1.27-3.37), P = 0.003]. In addition, higher increased NPC risk was associated with the TLR2-Del/Del genotype [OR (95% CI) = 2.74 (1.37-5.48), P = 0.004]. An increased frequency of the Del-T haplotype was seen in NPC cases compared to controls. Conclusion: Our results demonstrate an increased risk of NPC with the TLR2-Del/Del genotype and Del-T TLR2 and TLR3 haplotype, suggesting their potential use as biomarkers to evaluate NPC risk in Tunisians.
RESUMEN
OBJECTIVE: This study investigated the association between HLA-DRB1 and -DQB1 alleles and DRB1-DQB1 haplotypes, and polycystic ovary syndrome (PCOS) in Bahraini women. DESIGN: Case-control, retrospective study. METHODS: Study subjects comprised 80 women with PCOS, and 169 age- and ethnically-matched control women. DRB1 and DQB1 genotyping was done by PCR-SSP. RESULTS: Of the 13 DRB1 alleles and 5 DQB1 alleles identified, DRB1*10 (14.3% vs. 4.4%) and DRB1*14 (8.7% vs. 1.1%), along with DQB1*05 (35.0% vs. 23.9%), were the most frequent alleles in cases, while DRB1*11 (15.3% vs. 6.8%) was the frequent allele found in controls. The association of PCOS with DRB1*10 (Pc<0.001), DRB1*14 (Pc<0.001), DQB1*05 (Pc=0.040), but not DRB1*11 (Pc=0.076) persisted after correcting for multiple comparisons. DRB1-DQB1 haplotype analysis identified nine common shared haplotypes in women with PCOS and control women, with a frequency exceeding 1%. Significantly higher frequency of DRB1*10-DQB1*05 (12.4% vs. 3.1%) and DRB1*14-DQB1*03 (5.6% vs. 1.0%), and reduced frequency of DRB1*11-DQB1*03 (4.1% vs. 14.1%) haplotypes were seen in women with PCOS vs. control women, thus assigning PCOS-susceptible and -protective nature to these haplotypes, respectively. This association persisted after controlling for multiple comparisons. CONCLUSION: Our results confirm an association of HLA-DRB1 and -DQB1 alleles and haplotypes with PCOS susceptibility in Bahraini Arabs, further underscoring the immunological/inflammatory nature of this disorder.
Asunto(s)
Cadenas beta de HLA-DQ/genética , Cadenas HLA-DRB1/genética , Síndrome del Ovario Poliquístico/genética , Adulto , Bahrein , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Genotipo , Haplotipos , Humanos , Reacción en Cadena de la Polimerasa , Polimorfismo Genético , Estudios Retrospectivos , Adulto JovenRESUMEN
OBJECTIVE: The aim of our study was to investigate the association of HLA-DRB1 and -DQB1 alleles with multiple sclerosis (MS) in a Tunisian population and their effect on age at onset and disease severity. METHODS: 58 MS patients and 105 healthy controls were genotyped for HLA class II alleles by PCR-SSP technique. RESULTS: An association of MS with HLA-DRB1*15 was found (14.7% vs 3.8%, OR (95% CI)=4.34 (1.69-11.39), p(c)=2.5×10(-3)) after Bonferroni's correction. Moreover, the DRB1*15-DQB1*06 (13.8% vs 2.8%, OR (95% CI)=5.44 (1.92-17.41), p(c)=1.1×10(-3)) and DRB1*04-DQB1*04 (8.6% vs 1.9%, OR (95% CI)=4.86 (1.36-21.62), p(c)=0.028) haplotypes were found to confer a susceptibility to multiple sclerosis. CONCLUSION: To our knowledge, this is the first study performed to analyze the association of HLA-DRB1/DQB1 alleles on MS susceptibility in Tunisia. The modern Tunisian gene pool shows some degree of heterogeneity and reflects a significant gene flow from Mediterranean regions.