“糖尿病遗传物质”与多囊卵巢综合征有关

当未婚的卵巢囊肿截断正常排卵和妊娠时，就亦会暴发多囊卵巢神经性（Polycystic ovary syndrome， PCOS）。这个疑虑表面上很比较简单，但事实上，这种疾病是很复杂的，相关到多遗传学第一组分和自然诱发。曾受PCOS阻碍的未婚%到未婚总人口的5%，而且那些被临床为PCOS的未婚发展为2M-高血压（T2DM）的危险特质是其他人的2到7倍。正是由于这个主因，研究课题部门无论如何一个高血压相关遗传学也许在PCOS的暴发当中起效用。一项由146名PCOS高血压第一组成的最新研究课题确实“高血压遗传学”calpain-10（CAPN10）实际上是并能推论该神经性的一个令人很感兴趣的候选遗传学。一项新研究课题一项题字为“白种人群中磷反转录-10的人棒状内棒状和单倍棒状与多囊卵巢神经性相关”的新研究课题包含了这些研究课题结果。该研究课题由位于比利时Neuherberg的GSF-各地区自然环境和健康研究课题所的Caren Vollmert, Claudia Lamina, Cornelia Huth, Melanie Kolz, Andreas Schopfer-Wendels, Friedhelm Bongardt, Florian Kronenberg, Hannelore Lowel 和 Thomas Illig；位于Essen的Duisburg-Essen大学的Susanne Hahn,Klaus Mann and Onno E. Janssen；Munich的Ludwig Maximilians大学的H.-Erich Wichmann；Munich 技术大学的Jakob C. Mueller；Dusseldorf的Heinrich Heine大学的Christian Herder以及GSF-各地区自然环境和健康研究课题所的Rolf Holle均是由。他们的研究课题刊登在旧金山激素代谢生理学杂志的中国地区（）。该杂志是旧金山生理学亦会（APS）（）每月上架的14种科学研究显露版物之一。方法研究课题包括752名未婚。其中，146人临床为PCOS，其余606人用来作为解读的比利时人来自更进一步进行的与本研究课题无关的一项研究课题，且为无关的非糖尿特质。PCOS第一组曾受控外周血并合成测序DNA，解读第一组从全血粒细胞中合成测序DNA。鉴定显露8 个CAPN10人棒状内棒状的遗传学M-：UCSNP-44，-43，-56，ins/del-19（CAPN10 遗传学UCSNP-19位点的片段，包含DNA数列中的插入或缺失人棒状内），-110， -58， -63，和 -22。研究课题部门合成了这8个特殊的单核苷酸特质片断（SNPs）iV便是暴发在人类DNA数列的一种或多或少的遗传学人棒状内，因为它们和PCOS，2M-高血压或相关腹泻有关。然后用比较DNA深入研究的方法继续做遗传学分M-来认定个棒状对某种疾病的遗传学缺陷。为估计每个SNPs与PCOS的遗传学亲密关系，研究课题部门定量了个案第一组和解读第一组遗传学M-分布的差异。还计算了两第一组中平均年龄和棒状重指数（BMI）的不同产生的阻碍。研究课题部门用他们自己获得的图表以及所有的已经刊登的能确实CAPN10和PCOS的遗传学亲密关系的图表继续做了meta-深入研究，来并能的阐明CAPN10和PCOS的遗传学亲密关系。结果研究课题部门的见到包括以下要点：* 有明显的迹象确实高血压的遗传学区域内CAPN10 UCSNP-56 和 UCSNP-ins/del-19与PCOS易感特质有亲密关系。* 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易感特质不会显著亲密关系。结论本研究课题进一步为一个遗传学的两个区域内CAPN10 UCSNP-56 和 UCSNP-ins/del-19与PCOS易感特质相关的假说提供了强有力的全力支持。这些图表也确实SNP ins/del-19似乎与PCOS和2M-高血压都有亲密关系。这些结果对于约%未婚人口5%，被临床罹患这种眼部甚至他因的疾病的高血压而言是个讲道。同时，创作者们建议进行进一步的个案-解读研究课题和meta-深入研究来并能的推论这些结果。 '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 便是 CAPN10 UCSNP-56 and UCSNP-ins/del-19 便是 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.

编辑：蓝色幻想

编辑： 张靖