A promoter polymorphism -2122C > T of CHI3L1 is associated with serum low density lipoprotein cholesterol level in Korean subjects

作者：Lee Haeyong; Kang Ryunhwa; Jee Sun Ha; Yoon Yoosik^*

来源：Clinical Biochemistry, 2010, 43(15): 1195-1200.

DOI：10.1016/j.clinbiochem.2010.07.017

• CHI3L1
• Promoter
• SNP
• rs946261
• LDL cholesterol
• EMSA

Objectives: This study assessed the effects of 10 tagging single nucleotide polymorphisms (SNPs) of the CHI3L1 gene on serum LDL cholesterol levels in 290 Korean subjects.
Design and methods: Genotyping analyses of SNPs were conducted by TagMan (R) method. The effects of the promoter SNP on mRNA expression and nuclear factor binding were measured by real-time PCR and electrophoretic mobility shift assay, respectively.
Results: Among 10 tagging SNPs, - 2122C>T SNP (rs946261) in the promoter region was significantly associated with serum LDL cholesterol level (P=0.005). The T allele of - 2122C>T was associated with significantly increased mRNA expressions in peripheral blood cells of the subjects, and also increased a nuclear factor binding measured by an electrophoretic mobility shift assay.
Conclusions: - 2122C>T of CHI3L1, a promoter SNP which affects the mRNA expression and nuclear factor binding, is significantly associated with serum LDL cholesterol levels in Korean subjects.

• 出版日期2010-10