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• W2014634023 abstract "ObjectiveRecent genome-wide association studies (GWAS) of with endometriosis have had limited power, and relatively few loci have been confirmed. By design, GWAS studies focus on older gene variants, typically those present in greater than 3-5% of the population. Sequencing studies have revealed over 200,000 non-synonymous human variants with frequencies below one percent. In this study, we conduct an exome-wide search for rare, functional variants associated with endometriosis.DesignCaucasian endometriosis patients were genotyped for over 200,000 rare (frequency<0.005) non-synonymous variants. The number of heterozygous subjects was compared with values based on population data (n=12,000) and with 187 samples from caucasians with polycystic ovary syndrome (PCOS).Materials and methods1537 patients with surgically confirmed endometriosis were tested using the Infinium HumanExome BeadChip (Illumina). 187 patients with a clinical/laboratory diagnosis of PCOS were tested as a comparison group. Single marker association was tested using chi square statistics.ResultsTabled 1Number of Rare Variants Observedn1234-6Endometriosis1,528550 (36%)329 (21%)137 (8.9%)50 (3.8%)PCOS19047 (25%)11 (5.8%)2 (1%)0 (0%)Controls12,00018%2%0.1%0% Open table in a new tab ConclusionThe genes identified may play a role in the pathophysiology of endometriosis. The relative risk of having endometriosis is very high in women who carry two or more of these variants, suggesting that they may serve as useful predictive or diagnostic markers. ObjectiveRecent genome-wide association studies (GWAS) of with endometriosis have had limited power, and relatively few loci have been confirmed. By design, GWAS studies focus on older gene variants, typically those present in greater than 3-5% of the population. Sequencing studies have revealed over 200,000 non-synonymous human variants with frequencies below one percent. In this study, we conduct an exome-wide search for rare, functional variants associated with endometriosis. Recent genome-wide association studies (GWAS) of with endometriosis have had limited power, and relatively few loci have been confirmed. By design, GWAS studies focus on older gene variants, typically those present in greater than 3-5% of the population. Sequencing studies have revealed over 200,000 non-synonymous human variants with frequencies below one percent. In this study, we conduct an exome-wide search for rare, functional variants associated with endometriosis. DesignCaucasian endometriosis patients were genotyped for over 200,000 rare (frequency<0.005) non-synonymous variants. The number of heterozygous subjects was compared with values based on population data (n=12,000) and with 187 samples from caucasians with polycystic ovary syndrome (PCOS). Caucasian endometriosis patients were genotyped for over 200,000 rare (frequency<0.005) non-synonymous variants. The number of heterozygous subjects was compared with values based on population data (n=12,000) and with 187 samples from caucasians with polycystic ovary syndrome (PCOS). Materials and methods1537 patients with surgically confirmed endometriosis were tested using the Infinium HumanExome BeadChip (Illumina). 187 patients with a clinical/laboratory diagnosis of PCOS were tested as a comparison group. Single marker association was tested using chi square statistics. 1537 patients with surgically confirmed endometriosis were tested using the Infinium HumanExome BeadChip (Illumina). 187 patients with a clinical/laboratory diagnosis of PCOS were tested as a comparison group. Single marker association was tested using chi square statistics. ResultsTabled 1Number of Rare Variants Observedn1234-6Endometriosis1,528550 (36%)329 (21%)137 (8.9%)50 (3.8%)PCOS19047 (25%)11 (5.8%)2 (1%)0 (0%)Controls12,00018%2%0.1%0% Open table in a new tab ConclusionThe genes identified may play a role in the pathophysiology of endometriosis. The relative risk of having endometriosis is very high in women who carry two or more of these variants, suggesting that they may serve as useful predictive or diagnostic markers. The genes identified may play a role in the pathophysiology of endometriosis. The relative risk of having endometriosis is very high in women who carry two or more of these variants, suggesting that they may serve as useful predictive or diagnostic markers." @default.
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• W2014634023 title "Rare genetic variants useful for non-invasive diagnosis and prediction of endometriosis" @default.
• W2014634023 doi "https://doi.org/10.1016/j.fertnstert.2012.07.038" @default.
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