“糖尿病基因组”与多囊卵巢综合征有关

当女官能的卵巢囊肿阻断情况下排卵和妊娠时，就会发生多囊卵巢综合征（Polycystic ovary syndrome， PCOS）。这个问题表面上很简便，但事实上，这种营养不良是很复杂的，关的到多官能状四组分和状况因素。倍受PCOS制约的女官能占到女官能总人口的5%，而且那些被确诊为PCOS的女官能其发展为2型哮喘（T2DM）的危险官能是其他人的2到7倍。正是由于这个可能会，分析执法人员确信一个哮喘方面基因序列毫无疑问在PCOS的发生当中起作用。一项由146名PCOS症状四组成的最原先分析证明“哮喘基因序列”calpain-10（CAPN10）实际上是能够理解该综合症的一个令人感兴趣的候选基因序列。一项原先分析一项手迹为“的人群中钙蛋白酶-10的人体内体和单倍体与多囊卵巢综合症方面”的原先分析包含了这些分析结果。该分析由毗邻德国Neuherberg的GSF-国家状况和保健分析中心的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国立大学的Susanne Hahn,Klaus Mann and Onno E. Janssen；Munich的Ludwig Maximilians国立大学的H.-Erich Wichmann；Munich 核心技术国立大学的Jakob C. Mueller；Dusseldorf的Heinrich Heine国立大学的Christian Herder以及GSF-国家状况和保健分析中心的Rolf Holle共同完成。他们的分析发表在美国内分泌人体内微生物学杂志的原先闻网站（）。该杂志是美国微生物学会（APS）（）每月公开发行的14种物理书籍之一。步骤分析除此以外752名女官能。其中，146人确诊为PCOS，其余606人用来作为相符合的德国人来自先前进行的与本分析牵涉到的一项分析，且为牵涉到的非糖尿官能。PCOS四组分离外周血并分离出基因序列四组DNA，相符合四组从全血粒细胞中分离出基因序列四组DNA。鉴定出8 个CAPN10人体内体的表现型：UCSNP-44，-43，-56，ins/del-19（CAPN10 基因序列UCSNP-19位点的视频，包含DNA序列中的弹出或缺少人体内），-110， -58， -63，和 -22。分析执法人员分离出了这8个多种不同的单核苷酸官能记叙（SNPs）iV；还有发生在人类DNA序列的一种微小的官能状人体内，因为它们和PCOS，2型哮喘或方面症状有关。然后用比较DNA系统官能的步骤好好基因序列自体来判定个体对某种营养不良的官能状缺陷。为估计每个SNPs与PCOS的官能状父子关系，分析执法人员测定了病例四组和相符合四组表现型分布的关联。还近似值了两四组中年龄四组和腰围净资产（BMI）的不同产生的制约。分析执法人员用他们自己获得的信息以及所有的已经发表的能证明CAPN10和PCOS的官能状父子关系的信息好好了meta-系统官能，来较好的阐明CAPN10和PCOS的官能状父子关系。结果分析执法人员的见到除此以外下述应以：* 有明显的确凿证明哮喘的基因序列区域CAPN10 UCSNP-56 和 UCSNP-ins/del-19与PCOS易感官能有父子关系。* CAPN10 UCSNP-22和PCOS之间有预计父子关系。* CAPN10 UCSNP-44， -43， -110， -58，or -63和PCOS易感官能没特别是在父子关系。结论本分析进一步为一个基因序列的两个区域CAPN10 UCSNP-56 和 UCSNP-ins/del-19与PCOS易感官能方面的理论提供了强有力的支持。这些信息也证明SNP ins/del-19可能会与PCOS和2型哮喘都有父子关系。这些结果对于约占女官能人口5%，被确诊患有这种眼部甚至左臂的营养不良的症状而言是个福音。同时，作者们建议进行进一步的病例-相符合分析和meta-系统官能来较好的理解这些结果。 '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 ；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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