RESUMEN
BACKGROUND: Behçet disease (BD) is associated with the immune system, especially neutrophilic activity. The CXCR1, CXCR2 and CXCL5 genes mediate the activation and migration of neutrophils. AIM: To investigate CXCR1, CXCR2 and CXCL5 single nucleotide polymorphisms (SNPs) and examine their association with BD. METHODS: We studied polymorphic sites in CXCR1 (four sites: rs16858811, rs9282752, rs16858809 and rs16858808), CXCR2 (three sites: rs2230054, rs1126579 and rs1126580) and CXCL5 (one site: rs352046) in 87 patients with BD and 111 healthy controls (HCs), using a PCR restriction-fragment length polymorphism-based approach for genotyping. RESULTS: We found that the CXCR2 rs2230054 TT genotype and the CXCL5 rs352046 polymorphism might be possible genetic factors responsible for BD. We did not find any association between the development of BD and any of the four CXCR1 polymorphisms or the other two CXCR2 SNPs. In addition, our haplotype analysis results indicated that the haplotypes of the CXCR2 and CXCR1-CXCR2 polymorphic loci were different between the BD and HC groups. CONCLUSION: Our study suggests that polymorphisms of CXCR1, CXCR2 and CXCL5 may affect susceptibility to BD and increase the risk of developing the disease. These loci need to be studied in larger groups of patients from different geographical areas around the world in order to clarify the genetic background for BD pathogenesis.
Asunto(s)
Síndrome de Behçet/genética , Quimiocina CXCL5/genética , Polimorfismo de Nucleótido Simple , Receptores de Interleucina-8A/genética , Receptores de Interleucina-8B/genética , Femenino , Predisposición Genética a la Enfermedad , Haplotipos , Humanos , Masculino , TurquíaRESUMEN
In our study, we aimed to investigate the possible genetic drift, relationships, expansion and historical origin based on haplotype frequencies of the ß-globin gene cluster of normal and Behçet's disease (BD) population in Denizli, Turkey. We examined blood DNA samples obtained from our DNA bank. The association of population genetic parameters such as haplotypes, diversity, differentiation, Hardy-Weinberg equilibrium and demographic analysis for two populations was performed by Arlequin ver. 3.5. Our results show that both populations have high similarity in genetic parameters in terms of development and expansion based on haplotype diversity through the history. We found that historical levels of gene flow were significantly higher between the two populations. According to historical population, growth parameter of τ values for normal and BD populations dated approximately 42 000 to 38 000 ybp, respectively. In conclusion, historically, two populations show similar genetic parameters and unimodal growth distribution. Our results are consistent with the view that the BD may have occurred in area, independent from Silk Road.
Asunto(s)
Síndrome de Behçet/epidemiología , Síndrome de Behçet/genética , Predisposición Genética a la Enfermedad , Variación Genética/genética , Genética de Población , Haplotipos/genética , Globinas beta/genética , Estudios de Casos y Controles , Demografía , Humanos , Familia de Multigenes , TurquíaRESUMEN
The distributions of twelve beta-thalassemic mutations in samples (n = 139 chromosomal samples) from four regions of Turkey were determined. The frequencies of these mutations did not reveal a notable region specific heterogeneity. In particular, the four mutations, IVS.1/nt.110(G/A), IVS.1/nt.6(T/C), IVS.1/nt.1(G/A) and nonsense codon.39(C/T), with country-scale frequencies of 35.9%, 21.6%, 13.0% and 7.2%, respectively, were found to be distributed with rather similar frequencies also on a regional scale.
