Akrawi Delshad Saleh, PirouziFard MirNabi, Fjellstedt Erik, Sundquist Jan, Sundquist Kristina, Zöller Bengt
Center for Primary Health Care Research, Lund University/Region Skåne, Malmö, Sweden.
Department of Nephrology and Transplantation, SUS University Hospital, Malmö, Sweden.
Nephron. 2018;138(2):157-165. doi: 10.1159/000484327. Epub 2017 Nov 9.
BACKGROUND/AIMS: The heritability of end-stage renal disease (ESRD) among adoptees has not been examined so far. By studying adoptees and their biological and adoptive parents, it is possible to differentiate between the genetic causes and environmental causes of familial aggregation. This nationwide study aimed to disentangle the genetic and shared environmental contribution to the familial transmission of ESRD.
We performed a family study for Swedish-born adoptees (born between 1945 until 1995) and their biological and adoptive parents. The Swedish Multi-Generation Register was linked to the National Patient Registry for the period 1964-2012. ESRD was defined as patients in active uremic care, that is, chronic dialysis or kidney transplantation. OR for ESRD was determined for adoptees with an affected biological parent with ESRD compared with adoptees without a biological parent with ESRD. The OR for ESRD was also calculated in adoptees with an adoptive parent with ESRD compared with adoptees with an adoptive parent without ESRD. Moreover, heritability for ESRD was estimated with Falconer's regression.
A total of 111 adoptees, 463 adoptive parents, and 397 biological parents were affected by ESRD. The OR for ESRD was 6.41 in adoptees (95% CI 2.96-13.89) of biological parents diagnosed with ESRD. The OR for ESRD was 2.40 in adoptees (95% CI 0.76-7.60) of adoptive parents diagnosed with ESRD. The heritability of ESRD was 59.5 ± 18.2%.
The family history of ESRD in a biological parent is an important risk factor for ESRD. The high heritability indicates that genetic factors play an important role in understanding the etiology of ESRD.
背景/目的：迄今为止，尚未对领养者中终末期肾病（ESRD）的遗传力进行研究。通过对领养者及其亲生父母和养父母进行研究，有可能区分家族聚集的遗传原因和环境原因。这项全国性研究旨在厘清遗传因素和共同环境因素对ESRD家族传递的影响。
我们对出生在瑞典的领养者（出生于1945年至1995年之间）及其亲生父母和养父母进行了一项家族研究。瑞典多代登记册与1964年至2012年期间的国家患者登记册相链接。ESRD被定义为处于积极尿毒症护理中的患者，即接受慢性透析或肾脏移植的患者。将患有ESRD的亲生父母的领养者与没有患有ESRD的亲生父母的领养者相比，确定ESRD的比值比（OR）。还计算了有ESRD养父母的领养者与没有ESRD养父母的领养者相比的ESRD的OR。此外，用Falconer回归法估计ESRD的遗传力。
共有111名领养者、463名养父母和397名亲生父母受ESRD影响。被诊断患有ESRD的亲生父母的领养者中ESRD的OR为6.41（95%置信区间2.96 - 13.89）。被诊断患有ESRD的养父母的领养者中ESRD的OR为2.40（95%置信区间0.76 - 7.60）。ESRD的遗传力为59.5±18.2%。
亲生父母中有ESRD家族史是ESRD的一个重要危险因素。高遗传力表明遗传因素在理解ESRD的病因方面起着重要作用。
