“糖尿病基因”与多囊卵巢肉瘤有关

当异性恋的卵巢囊肿阻断也就是说性腺和月经周期时，就不会再次发生多囊卵巢综合征（Polycystic ovary syndrome， PCOS）。这个问题表面上很比较简单，但事实上，这种病因是很复杂的，具体到多基因第三组分和环境因素。备受PCOS影响的异性恋占有到异性恋总人均收入的5%，而且那些被病因为PCOS的异性恋发展为2M-冠心病（T2DM）的可能性是其他人的2到7倍。正是由于这个原因，图表分析其他部门相信一个冠心病具体蛋白质只不过在PCOS的再次发生正因如此起作用。一项由146名PCOS高血压第三组成的最另行图表分析确实“冠心病蛋白质”calpain-10（CAPN10）显然是并不需要断言该青光眼的一个感到感兴趣的候选蛋白质。一项另行图表分析一项题名为“白种人群中会钙酵素-10的蛋白质突变体和生殖细胞与多囊卵巢青光眼具体”的另行图表分析具体联了这些图表分析结果。该图表分析由设于德国Neuherberg的GSF-国家环境和生活品质图表分析中会心的Caren Vollmert, Claudia Lamina, Cornelia Huth, Melanie Kolz, Andreas Schopfer-Wendels, Friedhelm Bongardt, Florian Kronenberg, Hannelore Lowel 和 Thomas Illig；设于Essen的Duisburg-Essen的学校的Susanne Hahn,Klaus Mann and Onno E. Janssen；Munich的Ludwig Maximilians的学校的H.-Erich Wichmann；Munich 系统设计的学校的Jakob C. Mueller；Dusseldorf的Heinrich Heine的学校的Christian Herder以及GSF-国家环境和生活品质图表分析中会心的Rolf Holle均是由。他们的图表分析出版在美国肾脏代谢生理学刊物的网络版（）。该刊物是美国生理学不会（APS）（）每月公开发行的14种生物科学出版物之一。方法图表分析之外752名异性恋。其中会，146人病因为PCOS，其余606人用来作为对照的德国人来自原本顺利完成的与本图表分析都是的一项图表分析，且为都是的非冠心病异性恋。PCOS第三组受控外周血并提取蛋白质第三组DNA，准确率从全血粒细胞中会提取蛋白质第三组DNA。检验出8 个CAPN10蛋白质突变体的蛋白质M-：UCSNP-44，-43，-56，ins/del-19（CAPN10 蛋白质UCSNP-19核苷酸的片段，具体联DNA序列中会的弹出或紊乱蛋白质突变），-110， -58， -63，和 -22。图表分析其他部门提取了这8个特殊的单肽肽性片断（SNPs）iV----再次发生在人类DNA序列的一种表面的突变，因为它们和PCOS，2M-冠心病或具体病因有关。然后用比较DNA分析的方法做蛋白质检查和来判定个体对某种病因的基因缺陷。为估计每个SNPs与PCOS的基因的关系，图表分析其他部门测定了患者第三组和准确率蛋白质M-栖息于的差异。还计算了2第三组中会比率和体形指数（BMI）的不同产生的影响。图表分析其他部门用他们自己拿到的图表以及所有的已经出版的能确实CAPN10和PCOS的基因的关系的图表做了meta-分析，来更好的阐明CAPN10和PCOS的基因的关系。结果图表分析其他部门的挖掘出之外不限要点：* 有明显的证据确实冠心病的蛋白质区域CAPN10 UCSNP-56 和 UCSNP-ins/del-19与PCOS易感性有的关系。* CAPN10 UCSNP-22和PCOS间有预期的关系。* CAPN10 UCSNP-44， -43， -110， -58，or -63和PCOS易感性没显著的关系。正确性本图表分析实质性为一个蛋白质的两个区域CAPN10 UCSNP-56 和 UCSNP-ins/del-19与PCOS易感性具体的观点共享了强有力的反对。这些图表也确实SNP ins/del-19不太可能与PCOS和2M-冠心病都有的关系。这些结果对于大约占有异性恋人均收入5%，被病因精神病这种疼痛甚至砍伤的病因的高血压而言是个布道。同时，创作者们表示同意顺利完成实质性的患者-对照图表分析和meta-分析来更好的断言这些结果。 'Diabetes Gene' And Polycystic Ovary Syndrome May Be LinkedMain Category: Diabetes NewsArticle Date: 11 Dec 2006 - 20:00pm (PST)Polycystic ovary syndrome (PCOS) occurs when ovarian cysts block a woman's normal ovulation and menstrual cycle. While the problem sounds straightforward, the disease is complex, born from both multiple genetic components and environmental factors. PCOS affects up to five percent of the female population, and those diagnosed with the disease have a 2- to 7-fold risk of developing type 2 diabetes mellitus (T2DM). For this reason researchers believe a gene related to diabetes may also play a role in the onset of PCOS. A new study of 146 PCOS patients has found that the "diabetes gene" (calpain-10 (CAPN10)) is in fact an interesting candidate for explaining the syndrome. A New Study The findings are contained in a new study entitled "Calpain-10 Variants and Haplotypes are Associated with Polycystic Ovary Syndrome in Caucasians." The study was conducted by Caren Vollmert, Claudia Lamina, Cornelia Huth, Melanie Kolz, Andreas Schopfer-Wendels, Friedhelm Bongardt, Florian Kronenberg, Hannelore Lowel and Thomas Illig, all of the GSF-National Research Center for Environment and Health, Neuherberg; Susanne Hahn, Klaus Mann and Onno E. Janssen, University of Duisburg-Essen, Essen; H.-Erich Wichmann, Ludwig Maximilians University, Munich; Jakob C. Mueller, Technical University, Munich; Christian Herder, Heinrich Heine University, Dusseldorf; and Rolf Holle, GSF-National Research Center of Environment and Health, Neuherberg, Germany. Their study appears in the online edition of the American Journal of Physiology-Endocrinology and Metabolism (). The journal is one of the 14 scientific publications published by the American Physiological Society (APS) () each month. Methodology The study comprised 752 females. Of the total, 146 were diagnosed with PCOS and 606 were unrelated non-diabetic female controls drawn from a previously conducted independent study of the German population. Genomic DNA was taken from the PCOS group and isolated from whole blood, and genomic DNA was extracted from the blood leukocytes of the controls. Eight CAPN10 variants were genotyped: UCSNP-44, -43, -56, ins/del-19 (a fragment of gene CAPN10 UCSNP-19, which contains an insertion or deletion variation in the DNA sequence), -110, -58, -63, and -22. The researchers extracted these eight specific single-nucleotide polymorphisms (SNPs) ¡V the small genetic variations that can occur within a person's DNA sequence because they are known to be associated with PCOS, type 2 diabetes, or related traits. Genotyping using comparative DNA analysis to determine the predisposition of individuals to certain diseases was then performed. To estimate the genetic association of each of the eight SNPs with PCOS the differences in genotype distributions between the case and control groups were measured. The impact of the differences in age and body mass index (BMI) structures for both groups was also calculated. To better clarify the purported associations between CAPN10 and PCOS the researchers performed a meta-analysis using their own data and all available published data showing a genetic association between CAPN10 and PCOS. Results Highlights of the researchers' findings include the following: * clear evidence associating the diabetes gene areas CAPN10 UCSNP-56 and UCSNP-ins/del-19 with PCOS susceptibility * an expected association between CAPN10 UCSNP-22 and PCOS * no significant association between CAPN10 UCSNP-44, -43, -110, -58, or -63 and PCOS susceptibility Conclusions This study provides additional strong support for the theory that two areas of one gene ---- CAPN10 UCSNP-56 and UCSNP-ins/del-19 ---- are related to PCOS susceptibility. These data also suggest that the SNP ins/del-19 may be related to both PCOS and type 2 diabetes.The findings are good news for the estimated five percent of the female population who are diagnosed with the painful and sometimes disabling disease. At the same time, the authors recommend that additional case-control studies and meta-analysis be undertaken to better understand these findings.

撰稿人：蓝色幻想

撰稿人： 张靖