“糖尿病基因”与多囊卵巢性疾病有关

当男人的卵巢囊肿受阻正常受孕和月经时，就不会频发多囊卵巢综合征（Polycystic ovary syndrome， PCOS）。这个疑问表面上很简便，但事实上，这种结核病是很精细的，涉及到多开放性状组分和生存环境因素。曾受PCOS严重影响的男人占到男人总人均收入的5%，而且那些被治疗为PCOS的男人其发展为2改进型高血压（T2DM）的破坏开放性是其他人的2到7倍。正是由于这个原因，数据资料深入研究职员相信一个高血压就其开放性状也许在PCOS的频发单单起依赖性。一项由146名PCOS患者分成的最取而代之数据资料深入研究得出结论“高血压开放性状”calpain-10（CAPN10）无论如何是能够解释该开放性结核病的一个感着迷的候选开放性状。一项取而代之数据资料深入研究一项作序为“白种人群中钙糖类-10的个本体差异本体和单倍本体与多囊卵巢开放性结核病就其”的取而代之数据资料深入研究包括了这些数据资料深入研究结果。该数据资料深入研究由设于比利时Neuherberg的GSF-各地区生存环境和心理健康数据资料深入研究中心的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医学院的Susanne Hahn,Klaus Mann and Onno E. Janssen；Munich的Ludwig Maximilians医学院的H.-Erich Wichmann；Munich 电子技术医学院的Jakob C. Mueller；Dusseldorf的Heinrich Heine医学院的Christian Herder以及GSF-各地区生存环境和心理健康数据资料深入研究中心的Rolf Holle系由。他们的数据资料深入研究刊载在美国内分泌代谢物病理学杂志的网络版（）。该杂志是美国病理学不会（APS）（）每月发行的14种科学出版物之一。法则数据资料深入研究仅限于752名男人。其中，146人治疗为PCOS，其余606人用来作为对照的比利时人来自先前展开的与本数据资料深入研究或多或少的一项数据资料深入研究，且为或多或少的非糖尿开放性。PCOS组剥离外周血并萃取开放性状组DNA，实验组从全血上皮细胞中萃取开放性状组DNA。鉴别出8 个CAPN10个本体差异本体的表现改进型：UCSNP-44，-43，-56，ins/del-19（CAPN10 开放性状UCSNP-19位点的片段，包括DNA序列中的插入或纠正个本体差异），-110， -58， -63，和 -22。数据资料深入研究职员萃取了这8个多种不同的单核糖开放性片断（SNPs）iV----频发在进化DNA序列的一种微小的开放性状个本体差异，因为它们和PCOS，2改进型高血压或就其病征有关。然后用比较DNA深入研究的法则好好开放性状分改进型来判定个本体对某种结核病的开放性状缺陷。为估计每个SNPs与PCOS的开放性状亲密关系，数据资料深入研究职员测定了个案组和实验组表现改进型分布的差异。还计算了两组中年岁和本体重指数（BMI）的不同产生的严重影响。数据资料深入研究职员用他们自己获得的数据资料以及所有的并未刊载的能得出结论CAPN10和PCOS的开放性状亲密关系的数据资料好好了meta-深入研究，来更好的阐明CAPN10和PCOS的开放性状亲密关系。结果数据资料深入研究职员的断定仅限于以下要能：* 有明显的确凿得出结论高血压的开放性状周边地区CAPN10 UCSNP-56 和 UCSNP-ins/del-19与PCOS易感开放性有亲密关系。* CAPN10 UCSNP-22和PCOS彼此间有预想亲密关系。* CAPN10 UCSNP-44， -43， -110， -58，or -63和PCOS易感开放性很难显著亲密关系。结论本数据资料深入研究进一步为一个开放性状的两个周边地区CAPN10 UCSNP-56 和 UCSNP-ins/del-19与PCOS易感开放性就其的原理提供了强有力的反对。这些数据资料也得出结论SNP ins/del-19也许与PCOS和2改进型高血压都有亲密关系。这些结果对于大约占男人人均收入5%，被治疗患上这种疼痛甚至右腿的结核病的患者而言是个福音。同时，所写们同意展开进一步的个案-对照数据资料深入研究和meta-深入研究来更好的解释这些结果。 '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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