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

• Published in: Gene 2013-09, Vol.526 (2), p.385-389
• Main Authors: Ou, Zejin, Wang, Guanghai, Li, Qiang, Ma, Zuliang, Lin, Danmiao, Dai, Meng, Zou, Fei
• Format: Article
• Language: English
• Subjects: Adult; Aged; Asian Continental Ancestry Group - genetics; Asians; Association study; blood serum; BMI; body mass index; cardiovascular diseases; Case-Control Studies; cathepsin S; Cathepsins - genetics; China; cholesterol; Dyslipidemia; etiology; Female; Gene Frequency; Genetic Association Studies; Genotype; genotyping; haplotypes; Humans; hypercholesterolemia; hypertriglyceridemia; Male; Metabolic Diseases - genetics; metabolic syndrome; Middle Aged; Obesity; pathogenesis; polymerase chain reaction; Polymorphism, Genetic; Polymorphism, Single Nucleotide; restriction fragment length polymorphism; risk; Risk Factors; Young Adult
• ISSN: 0378-1119; 1879-0038
• DOI: 10.1016/j.gene.2013.05.028

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. •CTSS variant rs16827671 was linked with BMI and serum total cholesterol.•CTSS variant rs11576175 was linked with lower risk of dyslipidemia.•Haplotypes of rs16827671 and rs11576175 were linked with risk of dyslipidemia.