PMID- 19381781 OWN - NLM STAT- MEDLINE DCOM- 20100302 LR - 20221207 IS - 1573-4919 (Electronic) IS - 0300-8177 (Linking) VI - 330 IP - 1-2 DP - 2009 Oct TI - Association of -394C>G and -420C>G polymorphisms in the RETN gene with T2DM and CHD and a new potential SNP might be exist in exon 3 of RETN gene in Chinese. PG - 31-8 LID - 10.1007/s11010-009-0097-2 [doi] AB - Genetic variations of the human RETN gene are associated with metabolic phenotypes, including obesity, insulin sensitivity, diabetes, and coronary heart disease (CHD). There are few studies of two gene variants, -394C>G and -420C>G, in Chinese population. This study investigated the distribution of RETN gene, single nucleotide polymorphisms (SNPs), in Chinese Han population and the association of the polymorphisms with type 2 diabetes mellitus (T2DM) and CHD. In a population-based, case-control genetic association study, a total of 961 subjects were recruited from the community, including 318 T2DM patients, 273 CHD patients, and 370 unrelated healthy control individuals. Serum lipid levels were detected. Two SNPs of RETN gene, -394C>G and -420C>G, were genotyped by PCR-RFLP. Unknown Polymorphisms were screened with the technique of denaturing high performance liquid chromatography (DHPLC). The frequencies of RETN -394G allele in T2DM group, CHD group, and control group were 0.3066, 0.3555, and 0.3481, respectively, which are met with the Hardy-Weinberg equilibrium. There is a significant difference of the comparison of sex in T2DM group of RETN gene SNP-394C>G (P < 0.05). Compared with controls, there was no significant difference in the distribution of genotypes and allele frequencies of -394C>G polymorphic site in T2DM patients and CHD patients, respectively. No direct association was found between the -394C>G polymorphism and T2DM or CHD. The frequencies of RETN -420G allele in T2DM group, CHD group, and control group were 0.4009, 0.3725, and 0.3859, respectively, which are met with the Hardy-Weinberg equilibrium. The frequencies of RETN -420G allele in T2DM groups and control groups of Chinese population are significantly different from those in European population (0.40 vs. 0.27, 0.39 vs. 0.26) (P < 0.01). Compared with controls, there was no significant difference in distribution of genotypes and allele frequencies of -420C>G polymorphic site in T2DM patients and CHD patients, respectively. No direct association was found between the -420C>G polymorphism and T2DM or CHD. In addition, we found new potential SNP +593G>C in exon 3 of RETN gene using DHPLC. The RETN gene exhibits sex and ethnic differences. +593G>C of RETN gene might be a new potential SNP in exon 3 of RETN gene. Association between SNP -394C>G and -420C>G of RETN gene with T2DM and CHD in Chinese needs more exploration. FAU - Chi, Shuguang AU - Chi S AD - Department of Cell Biology and Genetics, and Center of Neuroscience, Fujian Medical University, 88 Jiaotong Road, Fuzhou, 350004, China. FAU - Lan, Cailian AU - Lan C FAU - Zhang, Sizhong AU - Zhang S FAU - Liu, Hekun AU - Liu H FAU - Wang, Xizhen AU - Wang X FAU - Chen, Yuanzhong AU - Chen Y FAU - Chen, Xuexiang AU - Chen X FAU - Chen, Suyun AU - Chen S FAU - Zhang, Wei AU - Zhang W LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20090421 PL - Netherlands TA - Mol Cell Biochem JT - Molecular and cellular biochemistry JID - 0364456 RN - 0 (Lipids) RN - 0 (RETN protein, human) RN - 0 (Resistin) SB - IM MH - Aged MH - Asian People/genetics MH - Case-Control Studies MH - Coronary Disease/epidemiology/*genetics MH - Diabetes Mellitus, Type 2/epidemiology/*genetics MH - Exons MH - Female MH - Gene Frequency MH - Genetic Association Studies MH - Genetic Predisposition to Disease MH - Genotype MH - Humans MH - Lipids/blood MH - Male MH - Middle Aged MH - Polymorphism, Single Nucleotide MH - Resistin/*genetics MH - Sex Factors EDAT- 2009/04/22 09:00 MHDA- 2010/03/03 06:00 CRDT- 2009/04/22 09:00 PHST- 2008/12/12 00:00 [received] PHST- 2009/03/30 00:00 [accepted] PHST- 2009/04/22 09:00 [entrez] PHST- 2009/04/22 09:00 [pubmed] PHST- 2010/03/03 06:00 [medline] AID - 10.1007/s11010-009-0097-2 [doi] PST - ppublish SO - Mol Cell Biochem. 2009 Oct;330(1-2):31-8. doi: 10.1007/s11010-009-0097-2. Epub 2009 Apr 21.