Primary Sj?gren's syndrome (SS) shares many features with systemic lupus erythematosus (SLE). Here we investigated the association of the three major polymorphisms in IRF5 and STAT4 found to be associated with SLE, in patients from Sweden and Norway with primary SS. These polymorphisms are a 5-bp CGGGG indel in the promoter of IRF5, the single nucleotide polymorphism (SNP) rs10488631 downstream of IRF5 and the STAT4 SNP rs7582694, which tags the major risk haplotype of STAT4. We observed strong signals for association between all three polymorphisms and primary SS, with odds ratios (ORs) >1.4 and P-values
The purpose of this study was to assess the individual and interactive effects between hepatic lipase (LIPC; C-514T, G-250A) and apolipoprotein E (APOE) (E2, E3, E4) gene polymorphisms on levels of plasma lipoprotein cholesterol and triglyceride among healthy, young, Canadian adults (n = 440). All subjects with at least one APOE2 allele had significantly lower low-density lipoprotein cholesterol, total cholesterol, and total cholesterol - high-density lipoprotein cholesterol ratio when compared with those with the APOE3 or APOE4 allele. There were significant differences in the LIPC allele and genotype frequencies between Caucasian (n = 207) and Asian (n = 211) individuals, but ethnicity did not contribute to the variations in circulating lipids. In addition, the lowest triglyceride levels (0.87 +/- 0.27 mmol.mL(-1)) were found in all APOE2 individuals carrying LIPC-514-CC and LIPC-250-GG genotypes, whereas the highest triglyceride levels (1.29 +/- 0.34 -1.32 +/- 0.32 mmol.mL(-1)) were found in APOE2 individuals carrying the opposite genotypes, LIPC-514TT and LIPC-250AA. These observations, distinct from the anti-atherogenic effects of APOE2 through the lowering of low-density lipoprotein cholesterol and LIPC on high-density lipoprotein cholesterol, suggest that there is an interactive effect between APOE and LIPC genotypes on plasma triglyceride levels. These results provide the basis for further studies on establishing which genotype combinations would be the most protective against hypertriglyceridemia.