Identification of fifty-seven novel loci for abdominal wall hernia development and their biological and clinical implications: results from the UK Biobank
| العنوان: | Identification of fifty-seven novel loci for abdominal wall hernia development and their biological and clinical implications: results from the UK Biobank |
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| المؤلفون: | William Kyle Resurreccion, Zhuqing Shi, Stephen P. Haggerty, Michael B. Ujiki, Siqun Lilly Zheng, Mikhail Attaar, Brian T. Helfand, Jun Wei, Rong Na, Jianfeng Xu |
| المصدر: | Hernia. 26:335-348 |
| بيانات النشر: | Springer Science and Business Media LLC, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | medicine.medical_specialty, business.industry, Family aggregation, Genome-wide association study, Single-nucleotide polymorphism, medicine.disease, Gastroenterology, Surgery, Umbilical hernia, Abdominal wall, Inguinal hernia, medicine.anatomical_structure, Internal medicine, Expression quantitative trait loci, medicine, Hernia, business |
| الوصف: | Familial aggregation is known for both hernia development and recurrence. To date, only one genome-wide association study (GWAS) limited to inguinal hernia has been reported that identified four risk-associated loci. We aim to investigate polygenic architecture of abdominal wall hernia development and recurrence. A GWAS was performed in 367,394 subjects from the UK Biobank to investigate the polygenic architecture of abdominal wall hernia subtypes (inguinal, femoral, umbilical, ventral) and identify specific single nucleotide polymorphisms (SNPs) that are associated with their risk. Expression quantitative trait loci (eQTL) analysis was performed to identify genes whose expression levels are associated with these SNPs. A genetic risk score (GRS) was used to assess the cumulative effect of multiple independent risk-associated SNPs on hernia development and recurrence in independent subjects (n = 82,064). Heritability (h2) was 0.12, 0.06, 0.16, and 0.07 for inguinal, femoral, umbilical, and ventral hernias, respectively. A high-level of genetic correlation (rg) was found among these subtypes of hernia. We confirmed the aforementioned four loci and identified 57 novel loci (P |
| تدمد: | 1248-9204 1265-4906 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_________::896324eeb8741cbf408c7bc4f0a57092Test https://doi.org/10.1007/s10029-021-02450-4Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi...........896324eeb8741cbf408c7bc4f0a57092 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 12489204 12654906 |
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