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目的 观察 NIDDM1位点 calpain- 10基因 (CAPN- 10 )的单核苷酸多态性 (SNP)组合与中国人 2型糖尿病 (type 2 diabetes,T2 DM)及有关临床代谢性状的关系。方法 2 6 8名上海地区中国人 ,其中144人为正常糖耐量 (NGT)者 ,12 4例为 T2 DM患者。予口服 75 g葡萄糖后 0、30、6 0、12 0及 180分钟测血浆葡萄糖 (PG)、胰岛素 (INS)、C-肽 (CP)及游离脂肪酸 (FFA) ,并估测胰岛β细胞胰岛素分泌及组织胰岛素敏感性。检测 CAPN- 10 UCSNP44、- 43、- 19及 - 6 3基因型。结果 (1)中国人 NGT者 4个 SNP的优势等位基因在 UCSNP44为 T(频率 91%)、UCSNP43为 G(89%)、UCSNP19为 I(3次 32 bp序列重复 ) (6 7%)及 UCSNP6 3为 C(79%)。这些频率与文献报道的其他种群频率间差异有显著性。 (2 )中国人 NGT者中上述 4个 SNP基因型组合类型共见 14种。群体中 6 9%由 4种基因型组合构成。按 UCSNP44 - 43- 19- 6 3排列 ,这 4种主要组合分别为组合 A∶ TT- GG- DI- CC(单倍型组合 112 1/1111) (频率为 10 %)、组合 B∶ TT- GA-II- CC(112 1/12 2 1) (10 %)、组合 C∶ TT- GG- II- CC(112 1/112 1) (2 6 %)及组合 D∶ TT- GG- DI- CT(112 1/1112 ) (2 2 %)。 (3) CAPN- 10上述单个 SNP或 4个 SNP组合频率在 NGT及 T2 DM者间?
Objective To investigate the association between single nucleotide polymorphism (SNP) of calpain-10 gene (CAPN-10) at NIDDM1 locus and type 2 diabetes mellitus (T2DM) in Chinese and related clinical metabolic traits. Methods Twenty-six Chinese in Shanghai, including 144 with normal glucose tolerance (NGT) and 12 4 with T2DM. Plasma glucose (PG), insulin (INS), C-peptide (CP) and free fatty acid (FFA) were measured at 0, 30, 60, 120 and 180 minutes after oral administration of 75 g glucose. Secretion and tissue insulin sensitivity. The CAPN-10 UCSNP44, - 43, - 19 and - 6 3 genotypes were detected. Results (1) The predominant alleles of four SNPs in Chinese NGT patients were T (frequency 91%), UCSNP43 G (89%), UCSNP19 I (three times 32 bp sequence repeats) (67%) And UCSNP6 3 is C (79%). There was a significant difference between these frequencies and other populations reported in the literature. (2) There are 14 common types of genotypes among the above 4 Chinese NGTs. Sixty-nine percent of the population consisted of four genotype combinations. The four major combinations were: A: TT-GG-DI-CC (haplotype combination 112 1/1111) (10% frequency) according to UCSNP44-43-19-63, The combination of C: TT-GG-II-CC (112 1/112 1) (26%) and the combination D: TT- GG- DI- CT (112 1/1112) (2 2%). (3) CAPN-10 The above single SNP or 4 SNP combination frequency between NGT and T2DM?