| Part 1 A study on the association of vitamin D receptor gene polymorphism with type 2 diabetes[Objectives] (1) To study the distribution of vitamin D receptor (VDR) gene Fokâ… (rs2228570), Bsmâ… (rs1544410), Apaâ… (rs7975232), Taqâ… (rs731236) restriction enzyme cutting sites polymorphism of HAN population in Kunming. (2) To investigate the association of VDR gene polymorphism with type 2 diabetes. [Methods] The polymorphism of VDR gene Fokâ… , Bsmâ… , Apaâ… , Taqâ… sites was detected by PCR-RFLP method in 288 unrelated Kunming HAN population who with type 2 diabetes (T2DM) and 139 unrelated healthy controls(NGT). The genotype frequencies, allele frequencies, haplotype frequencies and clinical indexes were compared among these groups. [Results] (1) There was significant linkage disequilibrium among Bsmâ… , Apaâ… , Taqâ… restriction enzyme cutting sites of VDR gene, allele correlation between Bsmâ… and Apaâ… , Apaâ… and Taqâ… , Bsmâ… and Taqâ… was 90.3%, 90.9%,72.6% separately. (2) The "bb" genotype in T2DM group was more than NGT group (91.7%vs84.9%) (X2=4.564, P<0.05). The "b" allele frequencies in T2DM group and NGT group was 95.31% and 90.29% separately, "B" allele frequencies in T2DM group and NGT group was 4.69% and 9.71% separately, and the difference was significant (X2=7.992, P<0.05). There were four ("Bat", "BAT", "bAT" and "baT") haplotypes were found in all subjects. The haplotype "BAT" in NGT group was more than in T2DM group (5.04%vsl.39%), and the difference was significant (X2=9.919, P<0.05). [Conclusions] (1) There are significant linkage disequilibrium between allele of VDR gene Bsmâ… , Apaâ… , Taqâ… restriction enzyme cutting sites in Kunming HAN population; (2)The polymorphism of VDR gene is associated with morbidity of type 2 diabetes, allele "b" of Bsmâ… site may be the susceptibility gene; (3) "BAT" haplotype may be a protection agent for type 2 diabetes in Kunming HAN population. Part 2 A study on the association of vitamin D receptor gene polymorphism with type 2 diabetic retinopathy[Objective] To investigate the association of VDR gene Fok I (rs2228570), Bsm I (rsl544410), Apa I (rs7975232), Taq I (rs731236) polymorphism with type 2 diabetic retinopathy. [Methods] The polymorphism of VDR gene Fok I, Bsm I, Apa I, Taq I sites was detected by PCR-RFLP method in 288 unrelated Kunming HAN population who with type 2 diabetes, including 117 subjects who with diabetic retinopathy (DR) and 171 subjects who without diabetic retinopathy (NDR). The genotype frequencies, allele frequencies, haplotype frequencies and clinical indexes were compared among these groups. [Results] There were no significant difference in genotype and allele frequencies between DR group and NDR group. There were three ("Bat","bAT" and "baT") haplotypes were found in all subjects. The distribution of these three haplotypes in DR group and NDR group was not significantly different. [Conclusion] The polymorphism of VDR gene Fok I, Bsm I, Apa I,Taq I sites may be not associate with diabetic retinopathy in Kunming HAN population.Part 3 A study on the association of vitamin D receptor gene polymorphism with type 2 diabetic nephropathy[Objective] To investigate the association of VDR gene Fok I (rs2228570), Bsm I (rs1544410), Apa I (rs7975232), Taq I (rs731236) polymorphism with type 2 diabetic nephropathy. [Methods] The polymorphism of VDR gene Fok I, Bsm I, Apa I, Taq I sites was detected by PCR-RFLP method in 288 unrelated Kunming HAN population who with type 2 diabetes, including 108 subjects who with diabetic nephropathy (DN) and 180 subjects who without diabetic nephropathy (NDN). The genotype frequencies, allele frequencies', haplotype frequencies and clinical indexes were compared among these groups. [Results]There were not significant difference in genotype frequencies of VDR gene Fok I, Bsm I, Apa I, Taq I sites between DN group and NDN group. The "t" allele of Taq I site in DN group and NDN group was 2.31% and 6.11% separately, the "T" allele of Taq I site in DN group and NDN group was 97.69% and 93.89% separately. The difference was significant (X2=4.355, P<0.05). There were three ("Bat","bAT" and "baT") haplotypes were found in all subjects. The distribution of these three haplotypes in DN group and NDN group was not significantly different. As a reference to NDN, the logistic regression analysis suggested that "aa" and "Aa" genotype of Apaâ… site was the risk factor for DN compared with "AA" genotype (B=-1.735,-1.694, P=0.026,0.031, OR=0.176,0.184). [Conclusion] The polymorphism of VDR gene Fokâ… , Bsmâ… , Apaâ… , Taqâ… sites may be associate with diabetic nephropathy in Kunming HAN population. The "T" allele of Taqâ… site may be the susceptibility gene for type 2 diabetes. The "aa" and "Aa" genotype of Apaâ… site may be the risk factors for diabetic nephropathy compared with "AA"genotype.Part 4 A study on the association of vitamin D receptor gene polymorphism with type 2 diabetic lower extremity artherosclerosis[Objective] To investigate the association of VDR gene Fokâ… (rs2228570), Bsmâ… (rsl544410), Apaâ… (rs7975232), Taqâ… (rs731236) polymorphism with type 2 diabetic lower extremity artherosclerosis. [Methods] The polymorphism of VDR gene Fokâ… , Bsmâ… , Apaâ… , Taqâ… sites was detected by PCR-RFLP method in 288 unrelated Kunming HAN population who with type 2 diabetes, including 164 subjects who with diabetic lower extremity artherosclerosis (AS) and 124 subjects who without diabetic lower extremity artherosclerosis (NAS). The genotype frequencies, allele frequencies, haplotype frequencies and clinical indexes were compared among these groups. [Results] There were no significant difference in genotype and allele frequencies of VDR gene Fokâ… , Bsmâ… , Apaâ… , Taqâ… sites between AS group and NAS group. There were three ("Bat","bAT" and "baT") haplotypes were found in all subjects. The distribution of these three haplotypes in AS group and NAS group was not significantly different. [Conclusion] The polymorphism of VDR gene Fokâ… ,Bsmâ… ,Apaâ… ,Taqâ… sites may be not associate with diabetic artherosclerosis in Kunming HAN population.
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