“糖尿病遗传”与多囊卵巢综合征有关

当女官能的卵巢囊肿阻断正常排卵和月经周期时，就才会愈演愈烈多囊卵巢综合征（Polycystic ovary syndrome， PCOS）。这个情况表面上很直观，但事实上，这种哮喘是很复杂的，涉及到多表现型式组分和因素所。受PCOS制约的女官能分之一到女官能所辖的5%，而且那些被病患为PCOS的女官能转变为2型式冠心病（T2DM）的危险官能是其他人的2到7倍。正是由于这个或许，研究者管理人员相信一个冠心病系统性基因序列也许在PCOS的愈演愈烈当中都起抑制作用。一项由146名PCOS患者组成的最原先研究者表明“冠心病基因序列”calpain-10（CAPN10）实际上是能够解释该青光眼的一个令人感兴趣的候选基因序列。一项原先研究者一项题名为“土著群中都铁质酶活性-10的个体差异锥体和单倍锥体与多囊卵巢青光眼系统性”的原先研究者包含了这些研究者结果。该研究者由毗邻德国Neuherberg的GSF-国家环境污染和肥胖研究者中都心的Caren Vollmert, Claudia Lamina, Cornelia Huth, Melanie Kolz, Andreas Schopfer-Wendels, Friedhelm Bongardt, Florian Kronenberg, Hannelore Lowel 和 Thomas Illig；毗邻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 新科技医学院的Jakob C. Mueller；Dusseldorf的Heinrich Heine医学院的Christian Herder以及GSF-国家环境污染和肥胖研究者中都心的Rolf Holle共同完成。他们的研究者撰写在美国遗传性降解免疫学杂志的中都国地区（）。该杂志是美国免疫学才会（APS）（）每月发行的14种科学出有版物之一。分析方法研究者还包括752名女官能。其中都，146人病患为PCOS，其余606人用来作为相异的德国人来自先前展开的与本研究者比如说的一项研究者，且为比如说的非糖尿官能。PCOS组分立外周血并分立出有来基因序列组DNA，相异组从全血粒细胞中都分立出有来基因序列组DNA。鉴定出有8 个CAPN10个体差异锥体的基因序列型式：UCSNP-44，-43，-56，ins/del-19（CAPN10 基因序列UCSNP-19亚基的片段，包含DNA序列中都的断开或缺失个体差异），-110， -58， -63，和 -22。研究者管理人员分立出有来了这8个特殊的单核苷酸官能片断（SNPs）iV--愈演愈烈在人类DNA序列的一种相对来说的表现型式个体差异，因为它们和PCOS，2型式冠心病或系统性征状有关。然后用相当DNA量化的分析方法要用基因序列分型式来确定个锥体对某种哮喘的表现型式缺陷。为推估每个SNPs与PCOS的表现型式亲密关系，研究者管理人员测了发生率组和相异组基因序列型式分布的差异。还计算了两组中都年龄和锥体重Index（BMI）的不同激发的制约。研究者管理人员用他们自己拿到的数据库以及所有的仍未撰写的能表明CAPN10和PCOS的表现型式亲密关系的数据库要用了meta-量化，来较好的说明CAPN10和PCOS的表现型式亲密关系。结果研究者管理人员的发现还包括下述切实：* 有明显的证据表明冠心病的基因序列地带CAPN10 UCSNP-56 和 UCSNP-ins/del-19与PCOS易感官能有亲密关系。* CAPN10 UCSNP-22和PCOS两者之间有预期亲密关系。* CAPN10 UCSNP-44， -43， -110， -58，or -63和PCOS易感官能没有特别是在亲密关系。结论本研究者进一步为一个基因序列的两个地带CAPN10 UCSNP-56 和 UCSNP-ins/del-19与PCOS易感官能系统性的理论提供了强有力的支持。这些数据库也表明SNP ins/del-19似乎与PCOS和2型式冠心病都有亲密关系。这些结果对于约分之一女官能人口5%，被病患患有这种疼痛甚至致残的哮喘的患者而言是个传福音。同时，作者们建议展开进一步的发生率-相异研究者和meta-量化来较好的解释这些结果。 '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.

撰稿：浅蓝色宿命

撰稿： 张靖