scholarly journals Association of Rs13405728, Rs12478601, and Rs2479106 single nucleotide polymorphisms and in vitro fertilization and embryo transfer efficacy in patients with polycystic ovarian syndrome: A case control genome-wide association study

2019 ◽  
Vol 35 (1) ◽  
pp. 49-55
Author(s):  
Jia-Yu Xia ◽  
Wei Tian ◽  
Gui-Hua Yin ◽  
Hua Yan
Keyword(s):  
Polycystic Ovarian Syndrome ◽  
Genome Wide Association Study ◽  
Case Control ◽  
Genome Wide Association ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Vitro Fertilization ◽  
Genome Wide ◽  
Ovarian Syndrome

scholarly journals Genome-Wide Association Study of Apparent Treatment-Resistant Hypertension in the CHARGE Consortium: The CHARGE Pharmacogenetics Working Group

2019 ◽  
Vol 32 (12) ◽  
pp. 1146-1153
Author(s):  
Marguerite R Irvin ◽  
Colleen M Sitlani ◽  
James S Floyd ◽  
Bruce M Psaty ◽  
Joshua C Bis ◽  
...  
Keyword(s):  
Antihypertensive Medication ◽  
Genome Wide Association Study ◽  
Case Control ◽  
Genome Wide Association ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Treatment Resistant ◽  
Single Nucleotide ◽  
Genome Wide ◽  
Normotensive Control

Abstract BACKGROUND Only a handful of genetic discovery efforts in apparent treatment-resistant hypertension (aTRH) have been described. METHODS We conducted a case–control genome-wide association study of aTRH among persons treated for hypertension, using data from 10 cohorts of European ancestry (EA) and 5 cohorts of African ancestry (AA). Cases were treated with 3 different antihypertensive medication classes and had blood pressure (BP) above goal (systolic BP ≥ 140 mm Hg and/or diastolic BP ≥ 90 mm Hg) or 4 or more medication classes regardless of BP control (nEA = 931, nAA = 228). Both a normotensive control group and a treatment-responsive control group were considered in separate analyses. Normotensive controls were untreated (nEA = 14,210, nAA = 2,480) and had systolic BP/diastolic BP < 140/90 mm Hg. Treatment-responsive controls (nEA = 5,266, nAA = 1,817) had BP at goal (<140/90 mm Hg), while treated with one antihypertensive medication class. Individual cohorts used logistic regression with adjustment for age, sex, study site, and principal components for ancestry to examine the association of single-nucleotide polymorphisms with case–control status. Inverse variance-weighted fixed-effects meta-analyses were carried out using METAL. RESULTS The known hypertension locus, CASZ1, was a top finding among EAs (P = 1.1 × 10−8) and in the race-combined analysis (P = 1.5 × 10−9) using the normotensive control group (rs12046278, odds ratio = 0.71 (95% confidence interval: 0.6–0.8)). Single-nucleotide polymorphisms in this locus were robustly replicated in the Million Veterans Program (MVP) study in consideration of a treatment-responsive control group. There were no statistically significant findings for the discovery analyses including treatment-responsive controls. CONCLUSION This genomic discovery effort for aTRH identified CASZ1 as an aTRH risk locus.

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