“糖尿病基因组”与多囊卵巢综合征有关

当男士的卵巢囊肿阻断经常病态受孕和月经时，就可能会愈演愈烈多囊卵巢syndrome（Polycystic ovary syndrome， PCOS）。这个情况表层上很有趣，但事实上，这种癌症是很复杂的，涉及到多突变溶剂和环境因素。受PCOS直接影响的男士%到男士总人口数量的5%，而且那些被病患为PCOS的男士发展为2型心血管疾病（T2DM）的危险病态是其他人的2到7倍。正是由于这个诱因，深入研究职员相信一个心血管疾病关的突变也许在PCOS的愈演愈烈当里面起主导作用。一项由146名PCOS患者都由的最近深入研究说明“心血管疾病突变”calpain-10（CAPN10）实际上是需要表述该病症的一个令人感兴趣的候选突变。一项新深入研究一项题名为“土著人群里面钙蛋白酶-10的突变突变体和单倍体与多囊卵巢病症关的”的新深入研究值得注意了这些深入研究结果。该深入研究由坐落奥地利Neuherberg的GSF-国内环境和肥胖深入研究里面心的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该大学的Susanne Hahn,Klaus Mann and Onno E. Janssen；Munich的Ludwig Maximilians该大学的H.-Erich Wichmann；Munich 技术该大学的Jakob C. Mueller；Dusseldorf的Heinrich Heine该大学的Christian Herder以及GSF-国内环境和肥胖深入研究里面心的Rolf Holle；还有。他们的深入研究发表在加拿大内分泌代谢物生理学周报的网络版（）。该周报是加拿大生理学可能会（APS）（）每月推出的14种医学成版物之一。方法深入研究包含752名男士。其里面，146人病患为PCOS，其余606人用来作为相比起的波兰人来自先前完成的与本深入研究牵涉到的一项深入研究，且为牵涉到的非糖尿病态。PCOS溶剂离外周血并提炼突变组成员DNA，相比起组成员从全血巨噬细胞里面提炼突变组成员DNA。解剖成8 个CAPN10突变突变体的突变型：UCSNP-44，-43，-56，ins/del-19（CAPN10 突变UCSNP-19启动子的相片，值得注意DNA序列里面的插入或缺失突变突变），-110， -58， -63，和 -22。深入研究职员提炼了这8个特殊的单核苷酸病态早先（SNPs）iV；还有愈演愈烈在人类DNA序列的一种微小的突变突变突变，因为它们和PCOS，2型心血管疾病或关的症状有关。然后用比起DNA比对的方法做突变检查和来判定个体对某种癌症的突变缺陷。为估计每个SNPs与PCOS的突变关联，深入研究职员测定了发病组成员和相比起组成员突变型分布的歧异。还计算了两组成员里面年岁和体重指数（BMI）的不同产生的直接影响。深入研究职员用他们自己获得的数据库以及所有的已经发表的能说明CAPN10和PCOS的突变关联的数据库做了meta-比对，来更多的阐明CAPN10和PCOS的突变关联。结果深入研究职员的发现包含下述要点：* 有明显的证据说明心血管疾病的突变周围CAPN10 UCSNP-56 和 UCSNP-ins/del-19与PCOS易感病态有关联。* CAPN10 UCSNP-22和PCOS之间有预估关联。* CAPN10 UCSNP-44， -43， -110， -58，or -63和PCOS易感病态没显著关联。结论本深入研究更进一步为一个突变的两个周围CAPN10 UCSNP-56 和 UCSNP-ins/del-19与PCOS易感病态关的的理论提供了强有力的全力支持。这些数据库也说明SNP ins/del-19可能与PCOS和2型心血管疾病都有关联。这些结果对于共约%男士人口数量5%，被病患患有这种疼痛甚至双目失明的癌症的患者而言是个福音。同时，笔记们促请完成更进一步的发病-相比起深入研究和meta-比对来更多的表述这些结果。 '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 ；还有 CAPN10 UCSNP-56 and UCSNP-ins/del-19 ；还有 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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