RESUMO
OBJECTIVE: To investigate the linkage and association between rs966221 (SNP 83) in PDE4D gene with stroke and related traits in ischemic stroke families. METHODS: Ischemic stroke families including ischemic stroke patients and their siblings and/or parents were recruited. Generalized estimating equation (GEE) was used to adjust for with-in family correlations and other potential confounding factors. Non-parameter linkage analysis and family based association test (FBAT) were applied to explore the relationship between rs966221 polymorphism and ischemic stroke together with its related traits. RESULTS: In the study 276 ischemic stroke families with totally 776 participants were enrolled. Apolipoprotein B (apoB), carotid intima media thickness (cIMT), high-density lipoprotein cholesterol and blood pressure were associated with ischemic stroke. In family based association test, after being adjusted for related chronic diseases, rs966221 C allele was found to be associated with cIMT in the dominant model (P=0.019), TT genotype (P=0.019) and CT genotype (P=0.007) were associated with cIMT significantly. After being adjusted for potential confounding factors, evidence of linkage was observed for rs966221 with apoB (P<0.001), high-sensitivity C-reactive protein (P=0.003) and systolic blood pressure (P=0.036). CONCLUSION: Abnormal serum lipid, blood pressure and increasing cIMT were associated with ischemic stroke, and linkage was observed for with apoB, high-sensitivity C-reactive protein, and systolic blood pressure; rs966221 C allele was probably associated with cIMT.