蛋白酪氨酸磷酸酶1B（PTPN1）编码基因多态性与2型糖尿病风险之间无关联。
Lack of association between polymorphisms in the gene encoding protein tyrosine phosphatase 1B (PTPN1) and risk of Type 2 diabetes.
作者信息
Wanic K, Malecki M T, Klupa T, Warram J H, Sieradzki J, Krolewski A S
机构信息
Joslin Diabetes Center and Department of Medicine, Harvard Medical School, Boston, MA 02215, USA.
出版信息
Diabet Med. 2007 Jun;24(6):650-5. doi: 10.1111/j.1464-5491.2007.02132.x. Epub 2007 Apr 2.
AIMS
Recently, an association of Type 2 diabetes (T2DM) with polymorphisms in PTPN1 located on chromosome 20q was reported. We attempted to replicate this finding in an ethnically homogeneous Polish population.
METHODS
The study groups comprised 474 cases with T2DM and 411 control subjects with normal fasting glucose. All individuals were genotyped for the five previously reported PTPN1 polymorphisms using a fluorescence polarization method. HAPLO.STAT software was used to infer and compare haplotype distributions.
RESULTS
The distributions of alleles and genotypes for the five genotyped PTPN1 polymorphisms did not differ between the T2DM cases and control subjects (lowest P = 0.6). Similarly, the frequency of the common haplotype reported to be associated with T2DM did not differ in cases and control subjects. We also failed to find such an association in Whites by performing a meta-analysis of all the available data on the association of those five SNPs with T2DM.
CONCLUSION
This case-control study in a Polish population did not confirm the reported association between polymorphisms in PTPN1 and T2DM.
目的
最近，有报道称2型糖尿病（T2DM）与位于20号染色体上的PTPN1基因多态性有关。我们试图在种族同质的波兰人群中重复这一发现。
方法
研究组包括474例T2DM患者和411例空腹血糖正常的对照者。使用荧光偏振法对所有个体进行五个先前报道的PTPN1基因多态性的基因分型。使用HAPLO.STAT软件推断和比较单倍型分布。
结果
T2DM患者和对照者之间，五个基因分型的PTPN1基因多态性的等位基因和基因型分布没有差异（最低P = 0.6）。同样，据报道与T2DM相关的常见单倍型频率在病例组和对照组中也没有差异。通过对这五个单核苷酸多态性与T2DM关联的所有可用数据进行荟萃分析，我们在白人中也未发现这种关联。
结论
这项在波兰人群中的病例对照研究未证实PTPN基因多态性与T2DM之间报道的关联。
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