CRTC3 polymorphisms were associated with the plasma level of total cholesterol and the risks of overweight and hypertriglyceridemia in a Chinese Han population.

CREB-regulated transcription coactivator 3 (CRTC3) was a recently identified protein which played an important role in glucose and lipid metabolism. Previous research showed that the polymorphisms of CRTC3 were associated with obesity in Mexican-Americans. Data on that relationship in Chinese was unavailable so far. So we investigated whether the polymorphisms of CRTC3 could confer risks of obesity or other metabolic disorders in Chinese population. 1,550 subjects were recruited from physical examination participants. Two SNPs of CRTC3, rs3862434 and rs11635252, were genotyped with the method of PCR-RFLP. Logistic regression model was applied to calculate the risks of overweight, obesity and dyslipidemias for genotypes. The rs3862434 was significantly associated with the plasma level of total cholesterol (P = 0.026), with the G allele carriers having a lower level compared with the AA genotype (P = 0.018). The rs11635252 was associated with the risks of overweight and hypertriglyceridemia, specifically, T allele had higher risks of overweight and hypertriglyceridemia compared with C allele (OR 1.23, 95 % CI 1.02-1.48, P = 0.024; OR 1.22, 95 % CI 1.00-1.48, P = 0.048, respectively). In conclusion, the CRTC3 polymorphism rs3862434 was associated with the plasma level of total cholesterol, and rs11635252 was associated with the risks of overweight and hypertriglyceridemia in a Chinese Han population, which might strengthen our understanding of the complex heredity of metabolic disorders.

Association of STAT3 common variations with obesity and hypertriglyceridemia: protective and contributive effects.

Signal transducer and activator of transcription 3 (STAT3) plays an important role in energy metabolism. Here we explore whether STAT3 common variations influence risks of obesity and other metabolic disorders in a Chinese Han population. Two tagging single nucleotide polymorphisms (tagSNPs), rs1053005 and rs957970, were used to capture the common variations of STAT3. Relationships between genotypes and obesity, body mass index, plasma triglyceride and other metabolic diseases related parameters were analyzed for association study in 1742 subjects. Generalized linear model and logistic regression model were used for quantitative data analysis and case-control study, respectively. rs1053005 was significantly associated with body mass index and waist circumference (p=0.013 and p=0.02, respectively). rs957970 was significantly associated with plasma level of triglyceride (p=0.007). GG genotype at rs1053005 had lower risks of both general obesity and central obesity (OR=0.40, p=0.034; OR=0.42, p=0.007, respectively) compared with AA genotype. CT genotype at rs957970 had a higher risk of hypertriglyceridemia (OR=1.43, p=0.015) compared with TT genotype. Neither of the two SNPs was associated with othermetabolic diseases related parameters. Our observations indicated that common variations of STAT3 could significantly affect the risk of obesity and hypertriglyceridemia in Chinese Han population.

The genetic polymorphisms of cathepsin S were associated with metabolic disorders in a Chinese Han population.

Cathepsin S (CTSS) played an important role in the etiology of cardiovascular disease and metabolic syndrome. Few studies had been reported on the association between the polymorphisms of CTSS and metabolic disorders in Asian population. Therefore we explored the association between the polymorphisms of CTSS and metabolic disorders in a Chinese Han population. The subjects were a Chinese Han cohort with 1160 participants, and the genotyping was performed with PCR-RFLP. Polymorphism rs16827671 was associated with BMI and serum total cholesterol (P=0.001; P=0.02, respectively). Subjects with CT genotype of rs16827671 had a higher risk of hypercholesterolemia (OR=1.64, 95% CI: 1.15-2.33, P=0.006) compared with TT genotype. Subjects with AG genotype of rs11576175 had lower risks of hypertriglyceridemia and borderline hypercholesterolemia (OR=0.52, 95% CI: 0.36-0.73, P=0.0001; OR=0.52, 95% CI: 0.35-0.77, P=0.001, respectively) compared with GG genotype. Compared with the haplotype TG, haplotype TA had a lower risk of hypertriglyceridemia and a higher risk of borderline hypercholesterolemia (OR=0.62, 95% CI: 0.44-0.88, P=0.002; OR=1.59, 95% CI: 1.10-2.31, P=0.008, respectively), and haplotype CA had a lower risk of hypercholesterolemia (OR=0.35, 95% CI: 0.18-0.68, P=0.002). In conclusion, we found that the genetic polymorphisms of CTSS were associated with metabolic disorders in a Chinese Han population, which would enrich the knowledge on genetic mechanisms of the pathogenesis of metabolic disorders.