“糖尿病遗传物质”与多囊卵巢综合征有关

当异官能恋的卵巢囊肿切断长时间受精和子宫时，就但会起因多囊卵巢综合征（Polycystic ovary syndrome， PCOS）。这个问题微小上很简单，但事实上，这种哮喘是很复杂的，关的到多基因突变组分和周边环境因素。受PCOS影响的异官能恋分之一到异官能恋总人口的5%，而且那些被病患为PCOS的异官能恋蓬勃发展为2DF哮喘（T2DM）的危险官能是其他人的2到7倍。正是由于这个情况，科学研究工作人员相信一个哮喘系统官能蛋白质某种程度在PCOS的起因当中起主导作用。一项由146名PCOS病征组成的最新科学研究确实“哮喘蛋白质”calpain-10（CAPN10）实际上是并不需要说明了该综合症的一个令人感兴趣的候选蛋白质。一项新科学研究一项题名为“白种群中钙核酸-10的基因突变体和单倍体与多囊卵巢综合症系统官能”的新科学研究包含了这些科学研究结果。该科学研究由地处比利时Neuherberg的GSF-国家所周边环境和心理健康科学该中心的Caren Vollmert, Claudia Lamina, Cornelia Huth, Melanie Kolz, Andreas Schopfer-Wendels, Friedhelm Bongardt, Florian Kronenberg, Hannelore Lowel 和 Thomas Illig；地处Essen的Duisburg-Essen医学院的Susanne Hahn,Klaus Mann and Onno E. Janssen；Munich的Ludwig Maximilians医学院的H.-Erich Wichmann；Munich 技术医学院的Jakob C. Mueller；Dusseldorf的Heinrich Heine医学院的Christian Herder以及GSF-国家所周边环境和心理健康科学该中心的Rolf Holle共同完成。他们的科学研究公开发表在旧金山激素糖类生物化学新闻周刊的网络版（）。该新闻周刊是旧金山生物化学但会（APS）（）每月发行的14种科学出版物之一。方法有科学研究还包括752名异官能恋。其中，146人病患为PCOS，其余606人用来作为对照的比利时人来自当初进行的与本科学研究或多或少的一项科学研究，且为或多或少的非糖尿官能。PCOS组分离外周血并提取蛋白质组DNA，非常少从全血血小板中提取蛋白质组DNA。深入研究出8 个CAPN10基因突变体的蛋白质DF：UCSNP-44，-43，-56，ins/del-19（CAPN10 蛋白质UCSNP-19位点的短片，包含DNA序列中的插入或其但会基因突变），-110， -58， -63，和 -22。科学研究工作人员提取了这8个类似于的单残基官能片断（SNPs）iV--起因在有机体DNA序列的一种微小的基因突变基因突变，因为它们和PCOS，2DF哮喘或系统官能病征有关。然后用较为DNA分析的方法有来作蛋白质分DF来是否是形态对某种哮喘的基因突变缺陷。为估计每个SNPs与PCOS的基因突变人关系，科学研究工作人员测定了个案组和非常少蛋白质DF分布的差异。还计算了一组中平均年龄和体重标准普尔（BMI）的相异产生的影响。科学研究工作人员用他们自己授予的数据资料以及所有的已经公开发表的能确实CAPN10和PCOS的基因突变人关系的数据资料来作了meta-分析，来更好的阐明CAPN10和PCOS的基因突变人关系。结果科学研究工作人员的挖掘出还包括以下要点：* 有显着的证明确实哮喘的蛋白质范围CAPN10 UCSNP-56 和 UCSNP-ins/del-19与PCOS易感官能有人关系。* CAPN10 UCSNP-22和PCOS之间有考虑到人关系。* CAPN10 UCSNP-44， -43， -110， -58，or -63和PCOS易感官能无法显着人关系。事实本科学研究全面官能为一个蛋白质的两个范围CAPN10 UCSNP-56 和 UCSNP-ins/del-19与PCOS易感官能系统官能的分析方法提供了强有力的反对。这些数据资料也确实SNP ins/del-19有可能与PCOS和2DF哮喘都有人关系。这些结果对于平均分之一异官能恋人口5%，被病患患有这种疼痛甚至致残的哮喘的病征而言是个福音。同时，创作者们同意进行全面官能的个案-对照科学研究和meta-分析来更好的说明了这些结果。 '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 he 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 ysis 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-ysis using their own data and all ailable 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-ysis be undertaken to better understand these findings.

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