Identification of Susceptibility Genes for Peritoneal, Ovarian, and Deep Infiltrating Endometriosis Using a Pooled Sample-Based Genome-Wide Association Study
المؤلفون المشاركون
Borghese, Bruno
Chapron, Charles
Tost, Jörg
de Surville, Magalie
Busato, Florence
Letourneur, Frank
Mondon, Françoise
Vaiman, Daniel
المصدر
العدد
المجلد 2015، العدد 2015 (31 ديسمبر/كانون الأول 2015)، ص ص. 1-8، 8ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2015-02-04
دولة النشر
مصر
عدد الصفحات
8
التخصصات الرئيسية
الملخص EN
Characterizing genetic contributions to endometriosis might help to shorten the time to diagnosis, especially in the most severe forms, but represents a challenge.
Previous genome-wide association studies (GWAS) made no distinction between peritoneal endometriosis (SUP), endometrioma (OMA), and deep infiltrating endometriosis (DIE).
We therefore conducted a pooled sample-based GWAS and distinguished histologically confirmed endometriosis subtypes.
We performed an initial discovery step on 10-individual pools (two pools per condition).
After quality control filtering, a Monte-Carlo simulation was used to rank the significant SNPs according to the ratio of allele frequencies and the coefficient of variation.
Then, a replication step of individual genotyping was conducted in an independent cohort of 259 cases and 288 controls.
Our approach was very stringent but probably missed a lot of information due to the Monte-Carlo simulation, which likely explained why we did not replicate results from “classic” GWAS.
Four variants (rs227849, rs4703908, rs2479037, and rs966674) were significantly associated with an increased risk of OMA.
Rs4703908, located close to ZNF366, provided a higher risk of OMA (OR = 2.22; 95% CI: 1.26–3.92) and DIE, especially with bowel involvement (OR = 2.09; 95% CI: 1.12–3.91).
ZNF366, involved in estrogen metabolism and progression of breast cancer, is a new biologically plausible candidate for endometriosis.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Borghese, Bruno& Tost, Jörg& de Surville, Magalie& Busato, Florence& Letourneur, Frank& Mondon, Françoise…[et al.]. 2015. Identification of Susceptibility Genes for Peritoneal, Ovarian, and Deep Infiltrating Endometriosis Using a Pooled Sample-Based Genome-Wide Association Study. BioMed Research International،Vol. 2015, no. 2015, pp.1-8.
https://search.emarefa.net/detail/BIM-1055564
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Borghese, Bruno…[et al.]. Identification of Susceptibility Genes for Peritoneal, Ovarian, and Deep Infiltrating Endometriosis Using a Pooled Sample-Based Genome-Wide Association Study. BioMed Research International No. 2015 (2015), pp.1-8.
https://search.emarefa.net/detail/BIM-1055564
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Borghese, Bruno& Tost, Jörg& de Surville, Magalie& Busato, Florence& Letourneur, Frank& Mondon, Françoise…[et al.]. Identification of Susceptibility Genes for Peritoneal, Ovarian, and Deep Infiltrating Endometriosis Using a Pooled Sample-Based Genome-Wide Association Study. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-8.
https://search.emarefa.net/detail/BIM-1055564
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1055564
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر