Polymorphism of the Fractalkine Receptor CX3CR1 and Systemic Sclerosis-associated Pulmonary Arterial Hypertension

Fractalkine (FKN) and its receptor CX3CR1 are critical mediators in the vascular and tissue damage of several chronic diseases, including systemic sclerosis (SSc) and pulmonary arterial hypertension (PAH). Interestingly, the V249I and T280M genetic polymorphisms influence CX3CR1 expression and function. We investigated whether these polymorphisms are associated with PAH secondary to SSc. CX3CR1 genotypes were analyzed by PCR and sequencing in 76 patients with limited SSc and 204 healthy controls. PAH was defined by colorDoppler echocardiography. Homozygosity for 249II as well as the combined presence of 249II and 280MM were significantly more frequent in patients with SSc compared to controls (17 vs 6%, p = 0.0034 and 5 vs 1%, p = 0.0027, respectively). The 249I and 280M alleles were associated with PAH (odd ratio [OR] 2.2, 95% confidence interval [CI] 1.01-4.75, p = 0.028 and OR 7.37, 95%CI: 2.45-24.60, p = 0.0001, respectively). In conclusion, the increased frequencies of 249I and 280M CX3CR1 alleles in a subgroup of patients with SSc-associated PAH suggest a role for the fractalkine system in the pathogenesis of this condition. Further, the 249I allele might be associated with susceptibility to SSc

Spillover effects of maternal education on child’s health and health behavior

This study investigates the effects of maternal education on child's health and health behavior. We draw on a rich German panel data set containing information about three generations. This allows instrumenting maternal education by the number of her siblings while conditioning on grandparental characteristics. The instrumental variables approach has not yet been used in the intergenerational context and works for the sample sizes of common household panels. We find substantial effects on health behavior for adolescent daughters, but neither for adolescent sons nor for the health status of newborns. We show that possible concerns for the validity of the instrument are unlikely to compromise these results. We discuss mother's health behavior, assortative mating, household income, and child¿s schooling track as possible channels of the estimated effects. Maternal education seems to affect daughter's smoking behavior through the higher likelihood of the daughter pursuing a higher secondary schooling track.The final publication is available at www.springerlink.com: http://dx.doi.org/10.1007/s11150-012-9161-