| 11. |
- van der Valk, Ralf J P, et al.
(författare)
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A novel common variant in DCST2 is associated with length in early life and height in adulthood.
- 2015
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Ingår i: Human molecular genetics. - : Oxford University Press (OUP). - 1460-2083 .- 0964-6906. ; 24:4, s. 1155-68
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Tidskriftsartikel (refereegranskat)abstract
- Common genetic variants have been identified for adult height, but not much is known about the genetics of skeletal growth in early life. To identify common genetic variants that influence fetal skeletal growth, we meta-analyzed 22 genome-wide association studies (Stage 1; N = 28 459). We identified seven independent top single nucleotide polymorphisms (SNPs) (P < 1 × 10(-6)) for birth length, of which three were novel and four were in or near loci known to be associated with adult height (LCORL, PTCH1, GPR126 and HMGA2). The three novel SNPs were followed-up in nine replication studies (Stage 2; N = 11 995), with rs905938 in DC-STAMP domain containing 2 (DCST2) genome-wide significantly associated with birth length in a joint analysis (Stages 1 + 2; β = 0.046, SE = 0.008, P = 2.46 × 10(-8), explained variance = 0.05%). Rs905938 was also associated with infant length (N = 28 228; P = 5.54 × 10(-4)) and adult height (N = 127 513; P = 1.45 × 10(-5)). DCST2 is a DC-STAMP-like protein family member and DC-STAMP is an osteoclast cell-fusion regulator. Polygenic scores based on 180 SNPs previously associated with human adult stature explained 0.13% of variance in birth length. The same SNPs explained 2.95% of the variance of infant length. Of the 180 known adult height loci, 11 were genome-wide significantly associated with infant length (SF3B4, LCORL, SPAG17, C6orf173, PTCH1, GDF5, ZNFX1, HHIP, ACAN, HLA locus and HMGA2). This study highlights that common variation in DCST2 influences variation in early growth and adult height.
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| 12. |
- Vogelezang, Suzanne, et al.
(författare)
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Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits.
- 2020
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Ingår i: PLoS genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 16:10
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Tidskriftsartikel (refereegranskat)abstract
- The genetic background of childhood body mass index (BMI), and the extent to which the well-known associations of childhood BMI with adult diseases are explained by shared genetic factors, are largely unknown. We performed a genome-wide association study meta-analysis of BMI in 61,111 children aged between 2 and 10 years. Twenty-five independent loci reached genome-wide significance in the combined discovery and replication analyses. Two of these, located near NEDD4L and SLC45A3, have not previously been reported in relation to either childhood or adult BMI. Positive genetic correlations of childhood BMI with birth weight and adult BMI, waist-to-hip ratio, diastolic blood pressure and type 2 diabetes were detected (Rg ranging from 0.11 to 0.76, P-values <0.002). A negative genetic correlation of childhood BMI with age at menarche was observed. Our results suggest that the biological processes underlying childhood BMI largely, but not completely, overlap with those underlying adult BMI. The well-known observational associations of BMI in childhood with cardio-metabolic diseases in adulthood may reflect partial genetic overlap, but in light of previous evidence, it is also likely that they are explained through phenotypic continuity of BMI from childhood into adulthood.
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| 13. |
- Abel, Marianne Hope, et al.
(författare)
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Insufficient maternal iodine intake is associated with subfecundity, reduced foetal growth, and adverse pregnancy outcomes in the Norwegian Mother, Father and Child Cohort Study.
- 2020
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Ingår i: BMC medicine. - : Springer Science and Business Media LLC. - 1741-7015. ; 18:1
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Tidskriftsartikel (refereegranskat)abstract
- Severe iodine deficiency impacts fertility and reproductive outcomes. The potential effects of mild-to-moderate iodine deficiency are not well known. The aim of this study was to examine whether iodine intake was associated with subfecundity (i.e. >12months trying to get pregnant), foetal growth, and adverse pregnancy outcomes in a mild-to-moderately iodine-deficient population.We used the Norwegian Mother, Father and Child Cohort Study (MoBa) and included 78,318 pregnancies with data on iodine intake and pregnancy outcomes. Iodine intake was calculated using an extensive food frequency questionnaire in mid-pregnancy. In addition, urinary iodine concentration was available in a subsample of 2795 pregnancies. Associations were modelled continuously by multivariable regression controlling for a range of confounding factors.The median iodine intake from food was 121μg/day and the median urinary iodine was 69μg/L, confirming mild-to-moderate iodine deficiency. In non-users of iodine supplements (n=49,187), low iodine intake (<100-150μg/day) was associated with increased risk of preeclampsia (aOR=1.14 (95% CI 1.08, 1.22) at 75 vs. 100μg/day, p overall <0.001), preterm delivery before gestational week 37 (aOR=1.10 (1.04, 1.16) at 75 vs. 100μg/day, p overall=0.003), and reduced foetal growth (-0.08 SD (-0.10, -0.06) difference in birth weight z-score at 75 vs. 150μg/day, p overall <0.001), but not with early preterm delivery or intrauterine death. In planned pregnancies (n=56,416), having an iodine intake lower than ~100μg/day was associated with increased prevalence of subfecundity (aOR=1.05 (1.01, 1.09) at 75μg/day vs. 100μg/day, p overall=0.005). Long-term iodine supplement use (initiated before pregnancy) was associated with increased foetal growth (+0.05 SD (0.03, 0.07) on birth weight z-score, p<0.001) and reduced risk of preeclampsia (aOR 0.85 (0.74, 0.98), p=0.022), but not with the other adverse pregnancy outcomes. Urinary iodine concentration was not associated with any of the dichotomous outcomes, but positively associated with foetal growth (n=2795, p overall=0.017).This study shows that a low iodine intake was associated with restricted foetal growth and a higher prevalence of preeclampsia in these mild-to-moderately iodine-deficient women. Results also indicated increased risk of subfecundity and preterm delivery. Initiating iodine supplement use in pregnancy may be too late.
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| 14. |
- Aberšek, Nina, et al.
(författare)
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Calprotectin levels in amniotic fluid in relation to intra-amniotic inflammation and infection in women with preterm labor with intact membranes: A retrospective cohort study
- 2022
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Ingår i: European Journal of Obstetrics & Gynecology and Reproductive Biology. - : Elsevier BV. - 1872-7654 .- 0301-2115. ; 272, s. 24-29
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To evaluate the concentrations of calprotectin in amniotic fluid with respect to intra-amniotic inflammation and infection and to assess the presence or absence of bacteria in the amnio-chorionic niche with respect to presence or absence of intra-amniotic inflammation. Study design: Seventy-nine women with singleton pregnancies and preterm labor with intact membranes (PTL) were included in the study. Amniotic fluid was collected at the time of admission by amniocentesis and calprotectin levels were analyzed from frozen/thawed samples using ELISA. Interleukin (IL)-6 concentration was measured by point-of-care test. Samples from amniotic fluid and the amnio-chorionic niche (space between amniotic and chorionic membranes) were microbiologically analyzed. Microbial invasion of the amniotic cavity (MIAC) was diagnosed based on a positive PCR result for Ureaplasma species, Mycoplasma hominis, 16S rRNA or positive culture. Intra-amniotic inflammation (IAI) was defined as amniotic fluid point-of-care IL-6 concentration ≥ 745 pg/mL. The cohort of included women was divided into 4 subgroups based on the presence or absence of IAI/MIAC; i) intra-amniotic infection, ii) sterile IAI, iii) intra-amniotic colonization and iv) neither MIAC nor IAI. Results: Women with intra-amniotic infection had a significantly higher intra-amniotic calprotectin concentration (median; 101.6 µg/mL) compared with women with sterile IAI (median; 9.2 µg/mL), women with intra-amniotic colonization (median; 2.6 µg/mL) and women with neither MIAC nor IAI (median 4.6 µg/mL) (p = 0.001). Moreover, significantly higher amniotic fluid calprotectin concentration was seen in women who delivered within 7 days (p = 0.003). A significant negative correlation was found between amniotic fluid calprotectin and gestational age at delivery (rho = 0.32, p = 0.003). Relatively more bacteria in the amnio-chorionic niche were found in the sterile IAI group compared with the other groups. Conclusions: Calprotectin concentrations in amniotic fluid were significantly higher in the intra-amniotic infection group compared with the other groups. Moreover, the bacterial presence in the amnio-chorionic niche was higher in IAI group.
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| 15. |
- Aberšek, Nina, et al.
(författare)
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Characterizing of intra-amniotic inflammatory changes associated with chronic inflammation in the placenta marked by elevated amniotic fluid interferon gamma-induced protein 10 (IP-10) in pregnancies complicated by preterm prelabor rupture of membranes.
- 2024
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Ingår i: European Journal of Obstetrics and Gynecology and Reproductive Biology: X. - 2590-1613 .- 1872-7654. ; 296, s. 292-298
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Tidskriftsartikel (refereegranskat)abstract
- This study aimed to determine the occurrence of intra-amniotic inflammatory changes associated with chronic inflammation in the placenta, marked by elevated levels of interferon gamma-induced protein 10 (IP-10) (≥2200pg/mL) in the amniotic fluid of women with preterm prelabor rupture of membranes (PPROM). Specifically, the study investigated whether these intra-amniotic inflammatory changes were more common in women with microbial invasion of amniotic cavity (MIAC) and intra-amniotic inflammation (IAI), as indicated by increased amniotic fluid interleukin (IL)-6 concentration (≥3000pg/mL).A cohort of 114 women with singleton pregnancies complicated by PPROM between 24+0 and 36+6 weeks of gestation were included. Amniotic fluid samples were obtained via amniocentesis upon admission. MIAC diagnosis involved aerobic and anaerobic cultures, as well as polymerase chain reaction (PCR) analysis of the amniotic fluid. Immunoassay tests and enzyme-linked immunosorbent assay (ELISA) were used to determine IL-6 and IP-10 concentrations, respectively.Among the participants, 19.3% and 15.8% had MIAC and IAI, respectively. The occurrence of intra-amniotic inflammatory changes associated with chronic inflammation in the placenta was similar between women with and without MIAC (25% vs. 40.9%, p=0.136, adjusted p=0.213). The rate of intra-amniotic inflammatory changes associated with chronic inflammation in the placenta was significantly higher in women with IAI compared to those without, after adjusting for gestational age at sampling (55.6% vs. 22.9%, p=0.005, adjusted p=0.011).This study revealed comparable rates of intra-amniotic inflammatory changes associated with chronic inflammation in the placenta in women with and without MIAC, but a higher prevalence of intra-amniotic inflammatory changes associated with chronic inflammation in the placenta in women with IAI. These findings suggest involvement of chronic inflammation even in women with PPROM with acute intra-amniotic inflammation.
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| 16. |
- Adam, Sumaiya, et al.
(författare)
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Pregnancy as an opportunity to prevent type 2 diabetes mellitus: FIGO Best Practice Advice.
- 2023
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Ingår i: International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics. - 1879-3479. ; 160:Suppl 1, s. 56-67
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Forskningsöversikt (refereegranskat)abstract
- Gestational diabetes (GDM) impacts approximately 17 million pregnancies worldwide. Women with a history of GDM have an 8-10-fold higher risk of developing type 2 diabetes and a 2-fold higher risk of developing cardiovascular disease (CVD) compared with women without prior GDM. Although it is possible to prevent and/or delay progression of GDM to type 2 diabetes, this is not widely undertaken. Considering the increasing global rates of type 2 diabetes and CVD in women, it is essential to utilize pregnancy as an opportunity to identify women at risk and initiate preventive intervention. This article reviews existing clinical guidelines for postpartum identification and management of women with previous GDM and identifies key recommendations for the prevention and/or delayed progression to type 2 diabetes for global clinical practice.
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| 17. |
- Adam, Sumaiya, et al.
(författare)
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Pregnancy as an opportunity to prevent type 2 diabetes mellitus: FIGO Best Practice Advice.
- 2023
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Ingår i: International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics. - : Wiley. - 1879-3479 .- 0020-7292. ; 160:Suppl 1, s. 56-67
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Forskningsöversikt (refereegranskat)abstract
- Gestational diabetes (GDM) impacts approximately 17million pregnancies worldwide. Women with a history of GDM have an 8-10-fold higher risk of developing type 2 diabetes and a 2-fold higher risk of developing cardiovascular disease (CVD) compared with women without prior GDM. Although it is possible to prevent and/or delay progression of GDM to type 2 diabetes, this is not widely undertaken. Considering the increasing global rates of type 2 diabetes and CVD in women, it is essential to utilize pregnancy as an opportunity to identify women at risk and initiate preventive intervention. This article reviews existing clinical guidelines for postpartum identification and management of women with previous GDM and identifies key recommendations for the prevention and/or delayed progression to type 2 diabetes for global clinical practice.
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| 18. |
- Ahlin, Kristina, et al.
(författare)
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Antecedents and neuroimaging patterns in cerebral palsy with epilepsy and cognitive impairment: a population-based study in children born at term
- 2017
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Ingår i: Acta Obstetricia et Gynecologica Scandinavica. - : Wiley. - 1600-0412 .- 0001-6349. ; 96:7, s. 828-836
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Tidskriftsartikel (refereegranskat)abstract
- Introduction. Antecedents of accompanying impairments in cerebral palsy and their relation to neuroimaging patterns need to be explored. Material and methods. A population-based study of 309 children with cerebral palsy born at term between 1983 and 1994. Prepartum, intrapartum, and postpartum variables previously studied as antecedents of cerebral palsy type and motor severity were analyzed in children with cerebral palsy and cognitive impairment and/or epilepsy, and in children with cerebral palsy without these accompanying impairments. Neuroimaging patterns and their relation to identified antecedents were analyzed. Data were retrieved from the cerebral palsy register of western Sweden, and from obstetric and neonatal records. Results. Children with cerebral palsy and accompanying impairments more often had low birthweight (kg) (odds ratio 0.5, 95% confidence interval 0.3-0.8), brain maldevelopment known at birth (p = 0.007, odds ratio infinity) and neonatal infection (odds ratio 5.4, 95% confidence interval 1.04-28.4). Moreover, neuroimaging patterns of maldevelopment (odds ratio 7.2, 95% confidence interval 2.9-17.2), cortical/subcortical lesions (odds ratio 5.3, 95% confidence interval 2.3-12.2) and basal ganglia lesions (odds ratio 7.6, 95% confidence interval 1.4-41.3) were more common, wheras white matter injury was found significantly less often (odds ratio 0.2, 95% confidence interval 0.1-0.5). In most children with maldevelopment, the intrapartum and postpartum periods were uneventful (p
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| 19. |
- Ahlin, Kristina, et al.
(författare)
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Antecedents of cerebral palsy according to severity of motor impairment.
- 2016
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Ingår i: Acta Obstetricia et Gynecologica Scandinavica. - : Wiley. - 1600-0412 .- 0001-6349. ; 95:7, s. 793-802
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Tidskriftsartikel (refereegranskat)abstract
- The purpose of this study was to determine whether antecedents and neuroimaging patterns vary according to the severity of motor impairment in children with cerebral palsy. Material and methods. A population-based study in which all 309 term-born children with spastic and dyskinetic cerebral palsy born between 1983 and 1994 and 618 matched controls were studied. Antecedents were retrieved from obstetric records. Information on neuroimaging was retrieved from the cerebral palsy Register of Western Sweden. Cases were grouped by severity of motor impairment: mild (walks without aids), moderate (walks with aids) or severe (dependent on wheelchair). Binary logistic regression, the Cochran-Armitage test for trends, interaction analyses and interrelationship analyses were performed. Results. Antecedents associated with mild motor impairment were antepartum (placental weight, maternal weight and antibiotic therapy) or intrapartum and postpartum adverse events (meconium-stained amniotic fluid, low Apgar score, admission to neonatal intensive care unit and neonatal encephalopathy). Antecedents associated with severe motor impairment were antepartum (congenital infection, small head circumference and brain maldevelopment) or intrapartum and postpartum (emergency cesarean section and maternal antibiotic therapy). Comparisons between mild and severe motor impairment revealed congenital infection, maldevelopment, neonatal encephalopathy and meconium aspiration syndrome significantly more often in the group with severe motor impairment (p
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| 20. |
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