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A promoter polymorphism − 2122C>T of CHI3L1 is associated with serum low density lipoprotein cholesterol level in Korean subjects
Authors:Haeyong Lee  Ryunhwa Kang  Sun Ha Jee  Yoosik Yoon
Institution:1. Department of Microbiology, Chung-Ang University College of Medicine, Seoul, Republic of Korea;2. Department of Epidemiology and Health Promotion, Graduate School of Public Health, Yonsei University, Seoul, Republic of Korea;1. Department of Pulmonary Medicine, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan;4. Department of Medical Genetics, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan;2. Laboratory for Respiratory and Allergic Diseases, Center for Integrative Medical Sciences, Institute of Physical and Chemical Research (RIKEN), Kanagawa, Japan;5. Deputy Director, Center for Integrative Medical Sciences, Institute of Physical and Chemical Research (RIKEN), Kanagawa, Japan;6. Laboratory for Statistical Analysis, Center for Integrative Medical Sciences, Institute of Physical and Chemical Research (RIKEN), Kanagawa, Japan;3. Tsukuba Medical Center, Ibaraki, Japan;7. First Department of Medicine, School of Medicine, Hokkaido University, Hokkaido, Japan;8. Department of Pathophysiology and Host Defense, Research Institute of Tuberculosis/JATA, Tokyo, Japan;9. Department of Respiratory Medicine, Toho University School of Medicine, Tokyo, Japan;10. Department of Respiratory Medicine, Tenri Hospital, Nara, Japan;11. Department of Pulmonary Medicine and Oncology, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan;12. Fukujuji Hospital, Tokyo, Japan;1. Laboratory of Cell Biology, Ajou University Institute for Medical Sciences, Suwon, Republic of Korea;2. Department of Dermatology, Ajou University School of Medicine, Suwon, Republic of Korea;3. Department of Microbiology, Ajou University School of Medicine, Suwon, Republic of Korea;4. Department of Dermatology, Yonsei University, Seoul, Republic of Korea;5. Brain Korea 21 Project for Medical Science, Republic of Korea;1. University of Leipzig, Department of Endocrinology and Nephrology, 04103 Leipzig, Germany;2. Leipzig University Medical Center, IFB AdiposityDiseases, 04103 Leipzig, Germany;3. University of Leipzig, Institute of Laboratory Medicine, 04103 Leipzig, Germany;4. University of Leipzig, Department of Urology, 04103 Leipzig, Germany;5. University of Greifswald, Department of Physiology, 17495 Greifswald, Karlsburg, Germany;6. Hospital St. Georg, Division of Nephrology and KfH Renal Unit, 04129 Leipzig, Germany;7. Outpatient Nephrology Care Unit, 04107 and 04178 Leipzig, Germany;1. Ludwig-Maximilians-Universität, Division of Metabolic and Nutritional Medicine, Dr. von Hauner Children''s Hospital, Universtiy of Munich Medical Center, 80337, Muenchen, Germany;2. Department of Animal Science, University of Wyoming, Laramie, 82701, WY, USA;3. Texas Pregnancy & Life-course Health Research Center, San Antonio, 7620 NW Loop 410, 78227, TX, USA
Abstract:ObjectivesThis 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 methodsGenotyping analyses of SNPs were conducted by TaqMan® 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.ResultsAmong 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.
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