AF4/FMR2 and IL-10 gene single nucleotide polymorphisms are correlated with disease susceptibility and immune infiltration in ankylosing spondylitis / 南方医科大学学报

OBJECTIVE@#To explore the correlation of polymorphisms of AF4/FMR2 family genes and IL-10 gene with genetic susceptibility to ankylosing spondylitis (AS) and identify the high-risk factors of AS.@*METHODS@#This case-control study was conducted among 207 AS patients and 321 healthy individuals. The tag single nucleotide polymorphisms (SNPs) rs340630, rs241084, rs10865035, rs1698105, and rs1800896 of the AF4/FMR2 family gene and IL-10 gene of the AS patients were genotyped, and the distribution frequencies of the genotypes and alleles were analyzed to explore the relationship between different genetic models and AS and the gene-gene and gene-environment interactions.@*RESULTS@#Gender ratio, smoking history, drinking history, hypertension, erythrocyte sedimentation rate and C-reactive protein differed significantly between the case group and the control group (P < 0.05). The dominant model and recessive model of AFF1 rs340630, the recessive model of AFF3 rs10865035, and the recessive model of IL-10 rs1800896 were significantly different between the two groups (P=0.031, 0.010, 0.031, and 0.019, respectively). Gene-environment interaction analysis suggested that the interaction model incorporating AFF1 rs340630, AFF2 rs241084, AFF3 rs10865035, AFF4 rs1698105, IL-10 rs1800896, smoking history and drinking history was the best model. The genes related with AF4/FMR2 and IL-10 were enriched in the biological processes of AF4 super extension complex, interleukin family signal transduction, cytokine stimulation and apoptosis. The expression levels of AF4/FMR2 and IL-10 were positively correlated with immune infiltration (r > 0).@*CONCLUSION@#The SNPs of AF4/FMR2 and IL-10 genes are associated with the susceptibility to AS, and the interactions of AF4/FMR2 and IL-10 genes with the environmental factors contributes causes AS through immune infiltration.

Association study of AFF1 rs340630 polymorphism with genetic susceptibility to rheumatoid arthritis in Chinese population

This study was performed to examine whether the AF4/FMR2 family, member 1 (AFF1) rs340630 polymorphism is involved in the genetic background of rheumatoid arthritis (RA) in a Chinese population. Two different study groups of RA patients and controls (328 RA patients and 449 healthy controls in the first study group; 232 RA patients and 313 controls in the second study group) were included in our study. Overall, there was no significant difference in either genotype (P=0.71 and 0.64 in the first and second study group, respectively) nor allele (in the first study group: A vs G, P=0.65, OR=1.05, 95%CI=0.85-1.29; in the second study group: G vs A, P=0.47, OR=1.10, 95%CI=0.86-1.40) frequencies of AFF1 rs340630 polymorphism between RA patients and controls. Our study represents the first report assessing the association of AFF1 rs340630 polymorphism with RA risk. No significant evidence was found for the dominant or recessive models. Further case-control studies with larger sample sizes and fine-mapping studies are needed to clarify the role of AFF1 in the genetic basis of RA.

Letramento em saúde de diabéticos tipo 2: fatores associados e controle glicêmico / Health literacy in type 2 diabetics: associated factors and glycemic control

Pacientes com diabetes mellitus requerem um autocuidado extenso, com tratamentos complexos e comportamentos de saúde adequados, sendo, essas habilidades, fator chave. Frente a tal complexidade surge a importância do letramento funcional em saúde. O objetivo do estudo foi analisar fatores associados ao letramento em saúde e sua relação com controle glicêmico em pacientes diabéticos. Este estudo foi realizado com 82 pacientes diabéticos tipo 2, atendidos em um ambulatório de endocrinologia de um hospital público, de ambos os sexos e com idade entre 19 e 59 anos, que responderam à versão abreviada e traduzida do Test of Functional Health Literacy in Adults (b-TOFHLA). Valores de glicemia de jejum e hemoglobina glicada foram coletados dos prontuários dos participantes. Foram realizadas correlações, comparações de médias e modelos de regressão linear. O letramento inadequado foi encontrado em 65,9% dos pacientes. Foram fatores associados à pontuação do b-TOFHLA, a idade e os anos de estudos. O letramento global não explicou o controle glicêmico, mas o numeramento apresentou associação com tal controle. Nossos resultados apontam para a necessidade de melhorar o numeramento em saúde dos pacientes para obter seu melhor controle glicêmico, principalmente naqueles com maior idade e menos anos de estudo.

Diabetes mellitus patients must concentrate on self-care, with complex treatments and adequate health behavior in which such habits are a key factor. Due to the complexity of this issue, the importance of literacy in health arises. The goal of the study was to analyze factors associated with literacy in health and its relation with glycemic control in diabetic patients. It involved a study with 82 type 2 diabetic patients of both sexes and aged between 19 and 59 attended in the outpatient endocrinology ward of a public hospital, who filled out an abbreviated and translated version of the Test of Functional Health Literacy in Adults (b-TOFHLA). Fasting glycaemia values and glycated hemoglobin were collected from the clinical history of the participants. Correlations, mean comparisons and linear regression models were tested. Inadequate literacy in health was encountered in 65.9% of the patients. The issues involved factors associated with the b-TOFHLA point scores were age and years of schooling. Global literacy did not explain the glycemic control, but the level of numeracy presented an association with this control. The results point to the need to improve the numeracy in health of the patients to obtain enhanced glycemic control, mainly in those with more advanced age and less years of schooling.