%0期刊文章%a strausz,satu%a rotsalainen,sanni%a ollila,hanna M.%a karjalainen,juha%kiiskinen,tuomo a reeve,玛丽%a kurki,mitja a kurki,mitja%a火星Aki S.%A Luonsi,Elina%A Mansour Aly,Dina%AHLQVIST,EMMA%A teder-Laving,Maris%A Palta,Priit%A GROOP,LEIF%AMägi,Reedik%AMäkitie,Antti%A Salomaa,Antti%A Salomaa,Antti a Salomaa,Antti a salomaa,a salomaa,a salomaa,a salomaa,a salomaa a salomaaVeikko%a Bachour,Adel%a tuomi,Tiinamaija%a palotie,aarno%a palotie,tuula%a ripatti,samuli%a,%T遗传性睡眠呼吸暂停发现与心脏代谢健康的牢固联系/13993003.03091-2020%j欧洲呼吸道杂志%p 2003091%x目前对阻塞性睡眠呼吸暂停(OSA)的遗传病因(OSA)的理解有限。我们旨在确定与OSA风险相关的遗传基因座,并测试OSA及其合并症是否具有共同的遗传背景。我们使用Finngen研究(217 955个个体)进行了首个大规模基因组全基因组的关联研究,其中16 761 OSA OSA使用全国性健康登记处确定的患者。我们估计估计8.3%[0.06-0.11]遗传力,并确定了与OSA相关的五个基因座(P <5.0×10-8):RS4837016 GTPase Actipting蛋白和VPS9域附近的RS4837016靠近CPPS9域1(GAPVD1),RS10928560附近基序趋化因子受体4(CXCR4),rs185932673靠近钙/钙调蛋白依赖蛋白依赖性蛋白激酶ID(CAMK1D)和rs9937053靠近脂肪质量和肥胖相关蛋白(FTO) - 先前与身体质量指数相关的变体(BMI)。在BMI调整分析中,在横纹肌肉瘤2相关转录本(RMST)/NEDD1γ-微管蛋白环复合物复合靶标因子(NEDD1)附近观察到了RS10507084的关联(NEDD1)。我们发现OSA和BMI(RG = 0.72 [0.62-0.83])以及包括高血压,2型糖尿病(T2D),冠心病(CHD),Stroke,抑郁症,抑郁症,抑郁症,哮喘和炎症性风湿性疾病,哮喘和炎症性流变性疾病,发现了高遗传相关性(RG = 0.72 [0.62-0.83])。(IRD)(RG> 0.30)。BMI的多基因风险评分(PRS)显示出1.98倍的OSA风险在最高和最低五分五五分之一和门德尔随机化之间支持BMI与OSA之间的因果关系。我们的发现支持肥胖与OSA与OSA之间的因果关系,OSA与OSA之间的因果关系。 and comorbidities.FootnotesThis manuscript has recently been accepted for publication in the European Respiratory Journal. It is published here in its accepted form prior to copyediting and typesetting by our production team. After these production processes are complete and the authors have approved the resulting proofs, the article will move to the latest issue of the ERJ online. Please open or download the PDF to view this article.Conflict of interest: Dr. Strausz has nothing to disclose.Conflict of interest: Dr. Ruotsalainen has nothing to disclose.Conflict of interest: Dr. Ollila has nothing to disclose.Conflict of interest: Dr. Karjalainen has nothing to disclose.Conflict of interest: Dr. Kiiskinen has nothing to disclose.Conflict of interest: Dr. Reeve has nothing to disclose.Conflict of interest: Dr. Kurki has nothing to disclose.Conflict of interest: Dr. Mars has nothing to disclose.Conflict of interest: Dr. Havulinna has nothing to disclose.Conflict of interest: Dr. Luonsi has nothing to disclose.Conflict of interest: Dr. Mansour Aly has nothing to disclose.Conflict of interest: Dr. Ahlqvist has nothing to disclose.Conflict of interest: Dr. Teder-Laving has nothing to disclose.Conflict of interest: Dr. Palta has nothing to disclose.Conflict of interest: Dr. Groop has nothing to disclose.Conflict of interest: Dr. Mägi has nothing to disclose.Conflict of interest: Dr. Mäkitie has nothing to disclose.Conflict of interest: Dr. Salomaa reports grants from Novo Nordisk and Sanofi for consultations and has ongoing research collaboration with Bayer AG, outside the submitted work;.Conflict of interest: Dr. Bachour has nothing to disclose.Conflict of interest: Dr. Tuomi has nothing to disclose.Conflict of interest: Dr. Palotie has nothing to disclose.Conflict of interest: Dr. Palotie has nothing to disclose.Conflict of interest: Dr. Ripatti has nothing to disclose. %U //www.qdcxjkg.com/content/erj/early/2020/11/19/13993003.03091-2020.full.pdf