“糖尿病基因”与多囊卵巢性疾病有关

当女持续性的卵巢囊肿阻断也就是说排卵和月经时，就不会频发多囊卵巢遗传性（Polycystic ovary syndrome， PCOS）。这个疑问较厚上很简单，但事实上，这种疾病是很简单的，涉及到多遗传等位基因组成员分和生理。颇受PCOS颇受到影响的女持续性占多数到女持续性总人口的5%，而且那些被病症为PCOS的女持续性转变为2同型哮喘（T2DM）的危险持续性是其他人的2到7倍。正是由于这个状况，系统持续性执法人员相信一个哮喘涉及等位基因也许在PCOS的频发当中起起到。一项由146名PCOS病症组成员成的除此以外系统持续性断定“哮喘等位基因”calpain-10（CAPN10）无论如何是能够理解该青光眼的一个令人不感兴趣的候选等位基因。一项新系统持续性一项题字为“白种人群中钙质蛋白酶-10的反转纤和单倍纤与多囊卵巢青光眼涉及”的新系统持续性还以外了这些系统持续性结果。该系统持续性由坐落德国Neuherberg的GSF-国家政府状况和有益系统持续性中心的Caren Vollmert, Claudia Lamina, Cornelia Huth, Melanie Kolz, Andreas Schopfer-Wendels, Friedhelm Bongardt, Florian Kronenberg, Hannelore Lowel 和 Thomas Illig；坐落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-国家政府状况和有益系统持续性中心的Rolf Holle；还有。他们的系统持续性登载在澳大利亚内分泌代谢药理学时代周刊的门户网站（）。该时代周刊是澳大利亚药理学不会（APS）（）每月发行的14种科学出新版物之一。新方法系统持续性以外752名女持续性。其中，146人病症为PCOS，其余606人用来作为折衷的德国人来自早先顺利进行的与本系统持续性无关的一项系统持续性，且为无关的非糖尿持续性。PCOS组成员裂解外周血并提取测序DNA，折衷组成员从全血粒细胞中提取测序DNA。鉴定出新8 个CAPN10反转纤的等位基因同型：UCSNP-44，-43，-56，ins/del-19（CAPN10 等位基因UCSNP-19位点的完整版，还以外DNA核酸中的插入或紊乱反转），-110， -58， -63，和 -22。系统持续性执法人员提取了这8个特别的单核苷酸持续性片断（SNPs）iV---频发在有机体DNA核酸的一种微小的遗传等位基因反转，因为它们和PCOS，2同型哮喘或涉及疼痛有关。然后用相比较DNA系统持续性的新方法继续做等位基因分同型来确认个纤对某种疾病的遗传等位基因缺陷。为预估每个SNPs与PCOS的遗传等位基因彼此间，系统持续性执法人员测定了个案组成员和折衷组成员等位基因同型原产的区别。还计算了两组成员中年龄和身型指标（BMI）的不同产生的颇受到影响。系统持续性执法人员用他们自己获得的原始数据以及所有的不太可能登载的能断定CAPN10和PCOS的遗传等位基因彼此间的原始数据继续做了meta-系统持续性，来能够的说明了CAPN10和PCOS的遗传等位基因彼此间。结果系统持续性执法人员的发现以外以下概要：* 有显着的确凿证据断定哮喘的等位基因范围内CAPN10 UCSNP-56 和 UCSNP-ins/del-19与PCOS易感持续性有彼此间。* CAPN10 UCSNP-22和PCOS之间有预估彼此间。* CAPN10 UCSNP-44， -43， -110， -58，or -63和PCOS易感持续性没显著彼此间。结论本系统持续性大幅度为一个等位基因的两个范围内CAPN10 UCSNP-56 和 UCSNP-ins/del-19与PCOS易感持续性涉及的理论发放了强有力的赞成。这些原始数据也断定SNP ins/del-19也许与PCOS和2同型哮喘都有彼此间。这些结果对于大约占多数女持续性人口5%，被病症患有这种疼痛甚至致残的疾病的病症而言是个福音。同时，原作者们促请顺利进行大幅度的个案-折衷系统持续性和meta-系统持续性来能够的理解这些结果。 '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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