Metspalu A

No ORCID on file · 10 papers in corpus · active 2007-2023

Study types

  • article 3
  • other 2

Condition tags

  • endometriosis 4
  • infertility 3
2023
Nature ·doi:10.1038/s41586-022-05473-8

Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These variants survived the founding …

2017
Journal of the American College of Cardiology ·doi:10.1016/j.jacc.2016.11.056

BackgroundGenome-wide association studies have so far identified 56 loci associated with risk of coronary artery disease (CAD). Many CAD loci show pleiotropy; that is, they are also associated with other diseases or traits.ObjectivesThis st…

2016
Nature genetics ·doi:10.1038/ng.3698

The genetic architecture of human reproductive behavior-age at first birth (AFB) and number of children ever born (NEB)-has a strong relationship with fitness, human development, infertility and risk of neuropsychiatric disorders. However, …

2015
Nature ·doi:10.1038/nature14132

Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links…

2012
Human molecular genetics ·doi:10.1093/hmg/dds334

Recent genome-wide association studies (GWASs) have identified common genetic variants at 5p15.33, 6p21-6p22 and 15q25.1 associated with lung cancer risk. Several other genetic regions including variants of CHEK2 (22q12), TP53BP1 (15q15) an…

other 2011
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology ·doi:10.3109/09513590.2010.495434

OBJECTIVE: To investigate whether polymorphisms in genes involved in biosynthesis and signalling of sex steroids influence susceptibility to endometriosis and to infertility associated with it. MATERIALS AND METHODS: Patients with endometr…

article 2010
European journal of obstetrics, gynecology, and reproductive biology ·doi:10.1016/j.ejogrb.2010.07.021

ObjectiveTo determine plausible associations between endometriosis and vascular endothelial growth factor gene (VEGF -2578 A/C, -1154 G/A, -634 G/C and 936 C/T), also angiotensin I-converting enzyme gene (ACE -240 A/T and 2350 A/G) single n…

article 2010
Fertility and sterility ·doi:10.1016/j.fertnstert.2009.12.024

In this case-control study, we investigated the potential associations of MMP-2 and MMP-9 gene promoter region polymorphisms as well as MMP-2 promoter haplotypes with susceptibility to endometriosis in women of caucasian origin. The results…

article 2009
Reproductive biomedicine online ·doi:10.1016/s1472-6483(10)60009-0

Progress has been made towards ascertaining the genetic predictors of ovarian stimulation in IVF. Aromatase cytochrome P450, encoded by the CYP19A1 gene, catalyses a key step in ovarian oestrogen biosynthesis. Hence, the aromatase gene is a…

other 2007
Molecular human reproduction ·doi:10.1093/molehr/gam035

The outcome of in vitro fertilization (IVF) depends substantially on the effectiveness of controlled ovarian hyperstimulation (COH) induced by administration of follicle-stimulating hormone (FSH). In COH, endogenously produced estrogens ext…