## Abstract Mutations in the gene encoding interferon regulatory factor 6 (__IRF6)__ underlie a common form of syndromic clefting known as Van der Woude syndrome. Lip pits and missing teeth are the only additional features distinguishing the syndrome from isolated clefts. Van der Woude syndrome, th
Genetic variants in protein kinase C zeta gene and type 2 diabetes risk: a case-control study of a Chinese Han population
✍ Scribed by Lei Qin; Ling Zhou; Xueji Wu; Jinluo Cheng; Jingsong Wang; Yunfeng Du; Jihong Hu; Moyu Shen; Jinyi Zhou
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 127 KB
- Volume
- 24
- Category
- Article
- ISSN
- 1520-7552
- DOI
- 10.1002/dmrr.882
No coin nor oath required. For personal study only.
✦ Synopsis
Abstract
Background
Previous investigations of the protein kinase C zeta (PRKCZ) gene, a susceptibility factor for type 2 diabetes mellitus (T2DM), have focussed on its single nucleotide polymorphisms (SNPs). In a departure from these earlier studies, we tested six tagging markers of PRKCZ based on the Hapmap database to evaluate their association with T2DM.
Methods
PCR‐RFLP was performed to test the genotypes in type 2 diabetes patients (n = 343) and normal controls (n = 429). Insulin‐related indexes were calculated from levels of fasting plasma insulin (FPI) and fasting plasma glucose (FPG).
Results
The variant genotypes, rs3753242TT, rs2503706CT, rs2503706CT/ TT and rs262654TT were associated with T2DM. And the significance remained for rs3753242 TT (p < 0.001) after the false discovery rate (FDR) correction. There was a doubling in the prevalence of the TTGCCC haplotype in the case subjects (14.2%) compared with the control subjects (6.9%) [OR (95% CI) = 2.19(1.49–3.22)]. In the control group, none of the haplotypes studied was associated with insulin‐related indexes.
Conclusions
The PRKCZ gene variants associated with the development of T2DM in this study must be investigated in a larger population to reveal any potential effects on metabolism. Copyright © 2008 John Wiley & Sons, Ltd.
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