Kretowski A, Gugała K, Okruszko A, Wawrusiewicz-Kurylonek N, Górska M
Department of Endocrinology, Diabetology and Internal Medicine, Medical University of Białystok, Poland.
Rocz Akad Med Bialymst. 2005;50:148-50.
Adiponectin (APM1)--a newly discovered adipocytokine secreted by fat tissue--was recently suggested to play a role in the genetic predisposition to type 2 diabetes, obesity and insulin resistance. Adiponectin gene is localized on chromosome 3q27 within the region which was identified as susceptibility locus for type 2 diabetes and metabolic syndrome. Till now genetic associations of two SNP in exon 2 (+45T/G) and intron 2 (+276G/T) of adiponectin gene with type 2 diabetes and adiponectin level were reported in Japanese population and with insulin resistance in some Caucasian populations (Italy, Germany). Moreover, in the proximal promoter region of the APM1 gene: SNP-11426A/G and -11391A/-11377G haplotype predicted the associations with fasting plasma glucose, type 2 diabetes and adiponectin levels. On the other hand the role of mutations in exon 3 of the adiponectin gene is not so well studied.
The aim of our study was the screening for rare mutation in exon 3 of adiponectin gene in the Polish subjects with type 2 diabetes as there is no data available about the frequency and role of these mutations in our population. The study was performed in the group of 187 Polish origin patients with type 2 diabetes (32 female and 155 male, mean age 54.1 +/- 8.6 yrs) and 102 age and sex matched healthy controls.
The frequency of adiponectin gene mutations in exon 3 was 3.9%, while in the control group 0.98% and this difference was not statistically significant. We also observed that adiponectin level is significantly lower in patients with c.331 T-->C mutation (Y111H) in comparison to subjects without this mutation (5.0 ug/ml vs 14.4 ug/ml, p=0.0148).
To our knowledge the present study is the first which shows that in Polish populations.
脂联素（APM1）——一种新发现的由脂肪组织分泌的脂肪细胞因子——最近被认为在2型糖尿病、肥胖症和胰岛素抵抗的遗传易感性中起作用。脂联素基因位于3号染色体q27区域，该区域被确定为2型糖尿病和代谢综合征的易感基因座。到目前为止，在日本人群中报道了脂联素基因外显子2（+45T/G）和内含子2（+276G/T）中的两个单核苷酸多态性（SNP）与2型糖尿病及脂联素水平的遗传关联，在一些白种人群体（意大利、德国）中报道了与胰岛素抵抗的关联。此外，在APM1基因的近端启动子区域：SNP -11426A/G和 -11391A/-11377G单倍型预测了与空腹血糖、2型糖尿病和脂联素水平的关联。另一方面，脂联素基因外显子3中突变的作用尚未得到充分研究。
我们研究的目的是筛查波兰2型糖尿病患者脂联素基因外显子3中的罕见突变，因为在我们的人群中尚无关于这些突变频率和作用的数据。该研究在187名波兰裔2型糖尿病患者（32名女性和155名男性，平均年龄54.1±8.6岁）和102名年龄和性别匹配的健康对照者中进行。
脂联素基因外显子3突变的频率为3.9%，而对照组为0.98%，这种差异无统计学意义。我们还观察到，与无c.331 T→C突变（Y111H）的受试者相比，有该突变的患者脂联素水平显著降低（5.0微克/毫升对14.4微克/毫升，p = 0.0148）。
据我们所知，本研究是首个表明在波兰人群中的研究。
