Polygenic Risk Score and Risk Factors for Gestational Diabetes

Perišić, Marija Majda; Vladimir, Klemo; Karpov, Sarah; Štorga, Mario; Mostashari, Ali; Khanin, Raya

doi:10.3390/jpm12091381

Cited by 10 publications

(13 citation statements)

References 30 publications

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“…To address this, an approach that has been employed is to use aggregate information from multiple susceptibility variants to create a genetic risk score. The association of the genetic risk score with the development of GDM or progression to T2DM can then be examined [ 42 , 44 , 64 ]. Genetic risk scores that included anywhere from 4 to 84 variants have been associated with GDM in cohorts that included 458 to 2636 cases of GDM and 487 to 13,400 controls [ 64 , 65 , 66 , 67 ].…”

Section: Genetics Of Gdmmentioning

confidence: 99%

“…The association of the genetic risk score with the development of GDM or progression to T2DM can then be examined [ 42 , 44 , 64 ]. Genetic risk scores that included anywhere from 4 to 84 variants have been associated with GDM in cohorts that included 458 to 2636 cases of GDM and 487 to 13,400 controls [ 64 , 65 , 66 , 67 ]. When women were stratified by quantiles or quintiles of genetic risk score, ORs of 1.53 to 3.60 for women in the highest strata of genetic risk score were demonstrated [ 64 , 66 , 67 ].…”

Section: Genetics Of Gdmmentioning

confidence: 99%

“…Genetic risk scores that included anywhere from 4 to 84 variants have been associated with GDM in cohorts that included 458 to 2636 cases of GDM and 487 to 13,400 controls [ 64 , 65 , 66 , 67 ]. When women were stratified by quantiles or quintiles of genetic risk score, ORs of 1.53 to 3.60 for women in the highest strata of genetic risk score were demonstrated [ 64 , 66 , 67 ]. One study demonstrated that second to a family history of diabetes, a genetic risk score consisting of only four variants was the most effective predictor of GDM [ 65 ].…”

Section: Genetics Of Gdmmentioning

confidence: 99%

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Genetics and Epigenetics: Implications for the Life Course of Gestational Diabetes

Lowe

2023

IJMS

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Gestational diabetes (GDM) is one of the most common complications of pregnancy, affecting as many as one in six pregnancies. It is associated with both short- and long-term adverse outcomes for the mother and fetus and has important implications for the life course of affected women. Advances in genetics and epigenetics have not only provided new insight into the pathophysiology of GDM but have also provided new approaches to identify women at high risk for progression to postpartum cardiometabolic disease. GDM and type 2 diabetes share similarities in their pathophysiology, suggesting that they also share similarities in their genetic architecture. Candidate gene and genome-wide association studies have identified susceptibility genes that are shared between GDM and type 2 diabetes. Despite these similarities, a much greater effect size for MTNR1B in GDM compared to type 2 diabetes and association of HKDC1, which encodes a hexokinase, with GDM but not type 2 diabetes suggest some differences in the genetic architecture of GDM. Genetic risk scores have shown some efficacy in identifying women with a history of GDM who will progress to type 2 diabetes. The association of epigenetic changes, including DNA methylation and circulating microRNAs, with GDM has also been examined. Targeted and epigenome-wide approaches have been used to identify DNA methylation in circulating blood cells collected during early, mid-, and late pregnancy that is associated with GDM. DNA methylation in early pregnancy had some ability to identify women who progressed to GDM, while DNA methylation in blood collected at 26–30 weeks gestation improved upon the ability of clinical factors alone to identify women at risk for progression to abnormal glucose tolerance post-partum. Finally, circulating microRNAs and long non-coding RNAs that are present in early or mid-pregnancy and associated with GDM have been identified. MicroRNAs have also proven efficacious in predicting both the development of GDM as well as its long-term cardiometabolic complications. Studies performed to date have demonstrated the potential for genetic and epigenetic technologies to impact clinical care, although much remains to be done.

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Section: Genetics Of Gdmmentioning

confidence: 99%

Section: Genetics Of Gdmmentioning

confidence: 99%

Section: Genetics Of Gdmmentioning

confidence: 99%

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Genetics and Epigenetics: Implications for the Life Course of Gestational Diabetes

Lowe

2023

IJMS

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“…Laboratory and radiological investigations supported by precision medicine in the field of early diagnosis include biomarkers [ 4 ], risk scores [ 5 , 6 ], cardiotocography [ 7 ], and magnetic resonance imaging (MRI) [ 8 ] for the early detection of potentially critical conditions during pregnancy. MRI is a reproducible diagnostic imaging technique for the evaluation of a wide variety of pathologies that offers several advantages compared to approaches that are operator-dependent or expose patients to ionizing radiations.…”

mentioning

confidence: 99%

“…Emerging data, however, suggest a multifactorial etiology of GDM, with both genetic and environmental components playing a role. Perišić et al contributed to this collection by presenting a recently developed polygenic risk score for GDM to investigate relationships between its genetic architecture and genetically constructed risk factors and biomarkers [ 6 ]. Their results demonstrate that the polygenic risk score can be used as an early screening tool that identifies women at higher risk of GDM before its onset, allowing comprehensive monitoring and preventative programs to mitigate the risks.…”

mentioning

confidence: 99%