Genome-wide association study identified new susceptibility loci for polycystic ovary syndrome

Lee, Hyejin; Oh, Jee Young; Sung, Yeon Ah; Chung, Hyewon; Kim, Hyung Lae; Kim, Gwang Sub; Cho, Yoon Shin; Kim, Jin Taek

doi:10.1093/humrep/deu352

Cited by 92 publications

(75 citation statements)

References 48 publications

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“…Hyperandrogenism likely drives acne in PCOS, although as it is a proinflammatory disease, immune genes and cytokines could likewise predispose to acne symptoms (Table ) . A number of GWASs have been performed for PCOS . Hormonal therapies are a well‐tolerated and effective way to control acne with and without endocrine disorders .…”

Section: Human Disorders That Cause Acne‐like Phenotypesmentioning

confidence: 99%

“…[129][130][131][132][133] A number of GWASs have been performed for PCOS. [134][135][136][137][138] Hormonal therapies are a well-tolerated and effective way to control acne with and without endocrine disorders. 139,140 CAH is linked to endocrine abnormalities with deficiency in the synthesis of cortisol from the adrenal cortex.…”

Section: Endocrine System Syndromesmentioning

confidence: 99%

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What does acne genetics teach us about disease pathogenesis?

2019

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Summary Background Acne vulgaris is a highly prevalent inflammatory skin disorder with a complex pathogenesis, characterized by comedones, papules, pustules and nodules. Familial preponderance clearly indicates a genetic basis for acne vulgaris, but until recently solid genetic associations were lacking. Results The advent of high‐resolution genotyping array technologies has allowed for large‐scale studies with both family‐based and cross‐sectional designs. These studies have revealed genetic loci encompassing genes that could be active in biological pathways and processes underlying acne vulgaris. However, specific functional consequences of those variants remain elusive. In parallel, investigations into rare disorders and syndromes that incorporate features of acne or acne‐like lesions have recently accelerated our understanding of disease pathogenesis. The genes revealed by these rare disorders highlight mechanisms cardinal for pilosebaceous biology and therefore anchor our insights from genetic association studies for acne vulgaris. Conclusions The next phase of research will require more in‐depth mechanistic investigations of loci and genes implicated in acne phenotypes to define the key molecular players driving the disorder. Concurrently, new treatments for acne vulgaris could be developed by dissecting the candidate molecular pathways to identify druggable targets.

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Section: Human Disorders That Cause Acne‐like Phenotypesmentioning

confidence: 99%

Section: Endocrine System Syndromesmentioning

confidence: 99%

What does acne genetics teach us about disease pathogenesis?

2019

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“…In recent years, genomewide association studies have been used to identify susceptibility loci for PCOS . Research on variation in telomere lengths in the human genome has gradually expanded into the field of reproduction, and studies have also reported associations between telomere length and PCOS .…”

Section: Introductionmentioning

confidence: 99%

Telomeric repeat‐containing RNA (TERRA) related to polycystic ovary syndrome (PCOS)

Wang

Shen

Zhu

et al. 2016

Clinical Endocrinology

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“…None of the selected gene variants had been reported to have an association with PCOS. However, rs1159315 found from GWAS with PCOS has shown a positive association with PCOS development in Korean women (4p12, p overall = 1.43 × 10 -5 ) in Lee et al [39]. The SNP is located near genes including gamma-aminobutyric acid A receptor, alpha 4 (GABRA4), gamma-aminobutyric acid A receptor, beta1 (GABRB1), cytochrome c oxidase subunit VIIb2 (COX7B2) and copper metabolism murr1 domain-containing 8 (COMMD8).…”

Section: Discussionmentioning

confidence: 93%

High Genetic Risk Scores of ASIC2, MACROD2, CHRM3, and C2orf83 Genetic Variants Associated with Polycystic Ovary Syndrome Impair Insulin Sensitivity and Interact with Energy Intake in Korean Women

Kim¹,

Liu²,

Jin³

et al. 2018

Gynecol Obstet Invest

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Background: We explored the genetic variants that were associated with polycystic ovary syndrome (PCOS) by genome-wide association study (GWAS) and evaluated the association of genetic risk scores (GRS) of the selected genetic variants with insulin resistance and the interaction of the GRS with nutrient intake to develop insulin resistance. Methods: The 6 genetic variants involved in brain and nervous system (acid sensing ion channel subunit 2 rs8071961, rs1988598, and rs16589, macro domain containing 2 rs7262810 CHRM3 rs1867265 and chromosome 2 open reading frame 83 rs11889798) were selected from a GWAS of the PCOS study. GRS of the 6 single nucleotide polymorphisms was calculated in 3,723 Korean women in the Ansan/Ansung cohort of KARE study. Results: Fasting serum insulin and C-reactive protein (CRP) levels, homeostasis model assessment of insulin resistance (HOMA-IR), and psychological stress levels were significantly higher in the high-GRS group than the low-GRS group. However, serum-free T4 levels were significantly lower in the high-GRS group. HOMA-IR and CRP were higher OR (1.129 and 1.382) in the high-GRS group than the low-GRS group after adjusted for covariates. There was a significant interaction between GRS and daily energy intake (p = 0.004). The OR (1.233) for HOMA-IR was higher in the high-GRS group than the low-GRS group only in the group with lower energy intakes based on estimated energy requirement. Conclusion: Women with high-GRS for PCOS had increased risk of insulin resistance and low energy intake did not protect against the elevation of insulin resistance in women with high GRS. Low energy intake might be protective against PCOS in carriers with low and medium GRS.

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Genome-wide association study identified new susceptibility loci for polycystic ovary syndrome

Abstract: This work was supported in part by the grant from the Korea Centers for Disease Control and Prevention (2009-E00591-00). The work was also supported by the Ewha Global Top5 Grant 2013 of Ewha Womans University. None of the authors has any conflict of interest to declare.

Cited by 92 publications

References 48 publications

What does acne genetics teach us about disease pathogenesis?

What does acne genetics teach us about disease pathogenesis?

Telomeric repeat‐containing RNA (TERRA) related to polycystic ovary syndrome (PCOS)

High Genetic Risk Scores of <b><i>ASIC2, MACROD2, CHRM3</i></b>, and <b><i>C2orf83</i></b> Genetic Variants Associated with Polycystic Ovary Syndrome Impair Insulin Sensitivity and Interact with Energy Intake in Korean Women

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