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This study was to investigate the distribution of the gene polymorphism inFOXC2-512 C＞T in the Han nationality population in Tianjin, and to assess therelation between FOXC2-512 C＞T polymorphism of the gene and meabolic elementsof type 2 diabetes mellitus（T2DM）. A total of 335 Han people was involved in thestudy. The participants included of 100 control subjects（ males, 56, females, 44, averageage was 57.57±10.23y）, 235 T2DM patients（males, 123, females, 112, averageage58.77±5.83y）. T2DM patients were recruited among in-patients in our hospitalduring the period of time May 2004 and October 2006. People who underwent acheck-up examination in our hospital during the period of time between October 2005and January 2006 were enrolled as random population control. The participants weregenetically unrelated and were all living in Tianjin. Genomic DNA was extractedfrom the collected blood samples, using Puregero DNA isolation kit. the FOXC2polymorphism was determined by polymerasechain reaction-restrition fragmentlength polymorphism（PCR-RFLP） analysis. The polymorphic gene found by RFLPtechnique was sequenced. Lastly we analyzed the clinical data. To theFOXC2polymorphism site of -512, 38（16.2%） with the homozygote mutation, 133（56.6%） with the heterozygote mutation were found in 235 typy 2 diabetes patients.The C allele frequency is 55.5%, the T allele frequency is 44.5% in diabetes group. 42（42%） with the homozygote mutation, 36 （36%） with the heterozygote mutation werefound in 100 healthy controls. The C allele frequency is 40 %, the T allele frequencyis 60% in control group. There is significiant differences between two groups（type 2diabetes group and control group）in the C allele frequency （p＜0.05）. According tothe FOXC2-512 C＞T polymorphism, type 2 diabetes patients were divided intoFOXC2 C/C genotype subjects and FOXC2 C/T and T/T genotype subjects.Compared between this two groups, it is seen the significiant differences instatistically. I found there is significiant differences in HOMA-IR index、P2PG、 LDL-C、HDL-C between this two genotypes （p＜0.05）, FOXC2 C/C genotype subjectsare higher than FOXC2 C/T and T/T genotype subjects, however, there is nosignificant differences in BMI、blood pressure、FPG、TG、CHO、FINS. Accordingto the FOXC2-512 C＞T polymorphism,type 2 diabetes patients were divided intoFOXC2 T/T genotype subjects and FOXC2 C/T and C/C genotype subjects.Compared between this two groups, it is seen the significant differences in statistically.I found there is significant differences in HOMA-IR index、P2PG、LDL-C、HDL-C、FINS between this two genotypes （p＜0.05）, FOXC2 C/T and FOXC2 C/C genotypesubjects are higher than FOXC2 T/T genotype subjects, however, there is nosignificant differences in BMI、blood pressure、FPG、TG、CHO. The data showed thatthere was FOXC2-512 C＞T polymorphism in the Han nationality population inTianjin of China, FOXC2-512 C＞T polymorphism is associated with some indices ofmetabolic elements, such as blood glucose、blood pressure. So it may partly causeinsulin resistance of typy 2 diabetes.
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