Abstract
BackgroundC5L2 has been demonstrated to be a functional receptor of acylation-stimulating protein (ASP), which is a stimulator of triglyceride synthesis or glucose transport. However, little is known about the variations in the coding region of the C5L2 gene and their association with coronary artery disease (CAD).Methodology/Principal FindingsWe identified a novel single nucleotide polymorphism (SNP), 698C>T (P233L), in exon 2 using a polymerase chain reaction direct-sequencing method. This nucleotide change causes the amino-acid order from proline to leucine at codon 233. We examined the role of this SNP for CAD using two independent case–control studies: one was in the Han population (492 CAD patients and 577 control subjects) and the other was in the Uygur population (319 CAD patients and 554 control subjects). Heterozygote carriers of the 698CT genotype were more frequent among CAD patients than among controls not only in the Han population (7.3% versus 1.7%) but also in the Uygur population (4.7% versus 1.6%). The odds ratio (OR) for carriers of the 698CT genotype for CAD was 4.484 (95% confidence interval (CI): 2.197–9.174) in the Han group and 2.989 (95% CI: 1.292–6.909) in the Uygur population. After adjustment of confounding factors such as sex, age, smoking, alcohol consumption, hypertension, diabetes, as well as serum levels of triglyceride, total cholesterol, high-density lipoprotein, the difference remained significant in the Han group (P<0.001, OR = 6.604, 95% CI: 2.776–15.711) and in the Uygur group (P = 0.047, OR = 2.602, 95% CI: 1.015–6.671).Conclusion/SignificanceThe 698CT genotype of C5L2 may be a genetic maker of CAD in the Han and Uygur population in western China.
Highlights
The etiology and pathogenesis of coronary artery disease (CAD) are likely to comprise a multifactorial disorder resulting from inheritance of several susceptibility genes, as well as multiple environmental determinants [1,2]
In Han subjects, the following variables were significantly different between the two groups: hypertension; diabetes; smoking; and the serum concentration of high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein-cholesterol (LDL-C), creatinine and blood urea nitrogen (BUN)
There was no significant difference in the following variables between CAD patients and control subjects: serum concentration of uric acid and TG; the body mass index (BMI); alcohol consumption; age; and sex
Summary
The etiology and pathogenesis of coronary artery disease (CAD) are likely to comprise a multifactorial disorder resulting from inheritance of several susceptibility genes, as well as multiple environmental determinants [1,2]. These include the genes for: ATP-binding cassette A (ABCA1) [6], peroxisome proliferator activated receptor-gamma (PPARc) [7], proprotein convertase subtilisin/kexin type 5 [8], and apolipoprotein E [9]. Activation of C5L2 initiates a signaling pathway which includes activation and translocation of protein kinase C as well as translocation of the glucose transporter [20,21,22] Activation of this pathway results in increased transport of glucose and esterification of fatty acids, leading to a net accumulation of TG stores in adipose tissue. C5L2 has been demonstrated to be a functional receptor of acylation-stimulating protein (ASP), which is a stimulator of triglyceride synthesis or glucose transport. Little is known about the variations in the coding region of the C5L2 gene and their association with coronary artery disease (CAD)
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
