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Association of R221S mutation in adiponectin gene with type 2 diabetes

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Author:
No author available
Journal Title:
CHINESE JOURNAL OF DIABETES
Issue:
6
DOI:
10.3321/j.issn:1006-6187.2004.06.004
Key Word:
脂联素;2型糖尿病;突变;Mutation

Abstract: Objective To investigate the impact of R221S mutation in the adiponectin gene (apM1) on type 2 diabetes(T2DM) in Chinese Han Methods The studied population consisted of 396 Chinese Han residents in Anhui province They included 148 subjects with normal glucose tolerance (NGT) and 248 with T2DM Plasma glucose and insulin were measured at 0 and 2 h during oral 75 g glucose tolerance test The islet beta cell insulin secretion and tissue insulin sensitivity were assessed by formulae of homeostasis model assessment (HOMA IR)= (FPG×FIns)/22 5 & HOMA β =20×FIns/(FPG -3 5) Height, weight, and circumferences of waist and hip were measured to calculate body mass index(BMI) and waist to hip ratio(WHR) Firstly, polymerase chain reaction single strand conformation polymorphism (PCR SSCP) was used to determine whether mutation exist in apM1 gene Then, exact mutation was checked by automated DNA direct sequencing Results (1) Six subjects with R221S mutation was found in the studied population at position 661bp relative to the translation start site in apM1 gene The 6 cases were all in T2DM group, and the mutation frequency is 0 024 (2) All subjects with T2DM carrying R221S mutation also suffered from abdominal obesity, while receiving medication for lipid abnormalities And five of six subjects were taking antihypertensive drug Conclusion R221S mutation in apM1 gene may associate with T2DM in Chinese Han

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