Wnt signaling/LRP6 plays a critical role in metabolic syndrome and atherosclerosis, and variation in this pathway may lead to hyperlipidemia, nonalcoholic fatty liver disease, and coronary artery disease. In the present study, we investigated the effect of LRP6 rs2302685 (V1062I) on hyperlipidemia in Iranian children and adolescents. The population in this study consisted of 200 children (101 boys, 99 girls) aged 9-18 years old. Total cholesterol, high-density lipoprotein (HDL), low-density lipoprotein (LDL), non-HDL cholesterol, and triglyceride levels were measured. Body composition was evaluated by the Hologic DXA system. PCR/restriction fragment length polymorphism was performed for LRP6 rs2302685 (V1062I) genotyping. Logistic regression analysis was done to find the association between LRP6 rs2302685 (V1062I) and categorized lipid parameters in the adjusted model for confounding factors (age, sex, and puberty). Individuals with the CC genotype showed significantly higher levels of cholesterol, triglycerides, LDL, and non-HDL compared to the CT and TT genotypes. In modeling analysis, for categorized lipid parameters, a significant association was found between CC versus CT, and CC versus TT in terms of cholesterol, LDL, and non-HDL. It seems that LRP6 rs2302685 (V1062I) variant carriers are associated with an increased risk of hyperlipidemia in Iranian children and adolescents.

<b><i>Background:</i></b> Bone mass acquisition in childhood is directly linked to adult bone mineral density (BMD) and fracture risk. BMD is a heritable trait, more than 70% of its variability among a population is affected by genetic factors. <b><i>Objectives:</i></b> In the present study, we wanted to investigate the association between estrogen receptor alpha (ESR1) polymorphisms, <i>PvuII</i> (rs2234693) and <i>XbaI</i> (rs9340799), and bone area, bone mineral content (BMC), and BMD of the lumbar spine, femoral neck, and also of the total body less the head in Iranian children. <b><i>Methods:</i></b> The ESR1 gene <i>PvuII</i> and <i>XbaI</i> genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism. Bone area, BMC, BMD, and bone mineral apparent density (BMAD) were assessed by dual-energy X-ray absorptiometry (DEXA). Linear regression was carried out to examine the effects of the ESR1 (<i>PvuII</i> and <i>XbaI</i>) polymorphisms on DEXA outputs when adjusted for confounding factors (i.e., age, sex, BMI, and pubertal stage) in 3 models. <b><i>Results:</i></b> ESR1 (<i>PvuII</i>) gene polymorphisms (CT vs. CC) showed significant effects on the BMC of the total body less the head in all 3 models. For ESR1 (<i>XbaI</i>), individuals with the AG genotype had higher lumbar spine BMD and lumbar spine BMAD compared to other genotypes. <b><i>Conclusions:</i></b> It seems that the <i>PvuII</i> and <i>XbaI</i> polymorphisms of ESR1 could be associated with BMC and BMD variation in Iranian children and adolescents.

No abstract

Background: Some 60-80% of the variability in bone mineral density (BMD) is determined by genetic factors. In the present study, we investigated the impact of the rs2302685 polymorphism of LRP6 on BMD and body composition in Iranian children. Methods: In total, 200 children (101 boys and 99 girls) were enrolled in the study. Body composition and BMD were computed using the Hologic DXA System (Hologic, Marlborough, MA, USA). The single nucleotide polymorphism of LRP6 rs2302685 (V1062I) was determined using a polymerase chain reaction/restriction fragment length polymorphism. A generalized linear model was performed to find the association between LRP6 polymorphisms, BMD and body composition in two adjusted models. Results: In model 1, a significant difference was found between LRP6 (rs2302685) polymorphism, trochanteric BMD (p = 0.007), intertrochanteric BMD (p = 0.007), total fat (p = 0.001), total fat (%) (p = 0.034), total lean mass (p = 0.031), total Lean + BMC (p = 0.036) and total mass (p = 0.001). In model 2, LRP6 (rs2302685) polymorphisms showed a significant effect on the trochanteric BMD (p = 0.005), intertrochanteric BMD (p = 0.005), total fat (p = 0.001), total fat (%) (p = 0.013) and total mass (p = 0.01). Total fat, total fat (%) and total body mass were higher in subjects with the CC genotype compared to the TT/CT genotype, whereas total lean mass and total Lean + BMC were higher in the TT/CT genotype. Conclusions: The present study shows that the LRP6 polymorphism may be associated with body composition and BMD in Iranian children.