title: S323I  polymorphism of the C5L2 gene was not identified in a Chinese population with familial combined  hyperlipidemia or with type 2 diabetes.
abstract: C5L2,  a G protein-coupled receptor, is known to be a functional receptor of  acylation-stimulating protein, which is a stimulator of triglyceride synthesis  and glucose transport. A novel C5L2 variant (S323I) was identified and its  association with familial combined hyperlipidemia (FCH) was recently reported.  We looked for this SNP in three Chinese ethnic groups, including Han, Uygur,  and Kazakh controls and patients with FCH and type 2 diabetes. One hundred and  eighty-two unrelated subjects (77 of Han, 57 of Uygur, and 48 of Kazakh) with  FCH were genotyped by direct sequencing, and 852 subjects (342 of Han, 338 of  Uygur, 172 of Kazakh) with type 2 diabetes and 200 healthy controls (67 of Han,  72 of Uygur, and 61 of Kazakh) chosen from a cardiovascular risk survey study  were genotyped with PCR-RFLP analysis. All 182 subjects with FCH, 99.5% of the  type 2 diabetes patients and 100% of the healthy controls were successfully  genotyped. Neither the FCH subjects nor the type 2 diabetes patients were found  to have the S323I variant. This variant was also not identified in the healthy  controls. We found no evidence to demonstrate that the S323I polymorphism  contributes to familial combined hyperlipidemia or type 2 diabetes in the  Chinese population.
authors.affiliation: Department of Cardiology, First Affiliated Hospital of Xinjiang Medical University, Urumqi, PR China.
authors.forename: Y-Y
authors.initials: YY
authors.lastname: Zheng
authors.forename: X
authors.initials: X
authors.lastname: Xie
authors.forename: Y-T
authors.initials: YT
authors.lastname: Ma
authors.forename: Y-N
authors.initials: YN
authors.lastname: Yang
authors.forename: Z-Y
authors.initials: ZY
authors.lastname: Fu
authors.forename: X-M
authors.initials: XM
authors.lastname: Li
authors.forename: F
authors.initials: F
authors.lastname: Liu
authors.forename: S-J
authors.initials: SJ
authors.lastname: Yang
authors.forename: X
authors.initials: X
authors.lastname: Ma
authors.forename: B-D
authors.initials: BD
authors.lastname: Chen
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D044466:Asian People; D002318:Cardiovascular Diseases / Q000208:ethnology / Q000209:etiology / Q000235:genetics*; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D004252:DNA Mutational Analysis; D003924:Diabetes Mellitus, Type 2 / Q000150:complications / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D006950:Hyperlipidemia, Familial Combined / Q000150:complications / Q000208:ethnology / Q000235:genetics*; D007532:Isoleucine / Q000235:genetics; D008297:Male; D008875:Middle Aged; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D044087:Receptor, Anaphylatoxin C5a; D019707:Receptors, Chemokine / Q000235:genetics*; D012307:Risk Factors; D012694:Serine / Q000235:genetics
chemical_list: C417003:C5aR2 protein, human; D044087:Receptor, Anaphylatoxin C5a; D019707:Receptors, Chemokine; D007532:Isoleucine; D012694:Serine