Daughters of polycystic ovary syndrome pregnancies and androgen levels in puberty: a Meta-analysis

Valsamakis, Georgios; Violetis, Odyssefs A; Chatzakis, Christos; Triantafyllidou, Olga; Eleftheriades, Makarios; Lambrinoudaki, Ιrene; Mastorakos, George; Vlahos, Nikolaos

doi:10.1080/09513590.2022.2121386

Cited by 5 publications

(5 citation statements)

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“…SHBG is the sex hormone–binding globulin gene and the only gene in this region known to have a biological function related to reproduction. This gene encodes a steroid-binding protein, and the encoded protein transports androgens and estrogens in the blood, binding each steroid molecule as a dimer formed from identical or nearly identical monomers [ 6 ]; the sex hormone binding globulin was likely associated with early puberty [ 7 , 8 ]. The known biological function of SHBG affecting reproduction and the highly significant SNP in the proximity of SHBG should implicate SHBG as an interesting candidate gene affecting AFC.…”

Section: Resultsmentioning

confidence: 99%

Genome-Wide Association Study of Age at First Calving in U.S. Holstein Cows

Prakapenka

Liang

2023

IJMS

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A genome-wide association study (GWAS) of age at first calving (AFC) using 813,114 first lactation Holstein cows and 75,524 SNPs identified 2063 additive effects and 29 dominance effects with p-values < 10−8. Three chromosomes had highly significant additive effects in the regions of 7.86–8.12 Mb of Chr15, 27.07–27.48 Mb and 31.25–32.11 Mb of Chr19, and 26.92–32.60 Mb of Chr23. Two of the genes in those regions were reproductive hormone genes with known biological functions that should be relevant to AFC, the sex hormone binding globulin (SHBG) gene, and the progesterone receptor (PGR) gene. The most significant dominance effects were near or in EIF4B and AAAS of Chr05 and AFF1 and KLHL8 of Chr06. All dominance effects were positive overdominance effects where the heterozygous genotype had an advantage, and the homozygous recessive genotype of each SNP had a very negative dominance value. Results from this study provided new evidence and understanding about the genetic variants and genome regions affecting AFC in U.S. Holstein cows.

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Section: Resultsmentioning

confidence: 99%

Genome-Wide Association Study of Age at First Calving in U.S. Holstein Cows

Prakapenka

Liang

2023

IJMS

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“…This 2023 study detected some effects in or near genes known to affect reproduction that the 2019 study did not detect, including SHBG ( Figure 1 a), GNRHR ( Figure 1 c), ESR1 ( Figure 4 e), and multiple genes of pregnancy-associated glycoproteins ( Figure 5 f). SHBG is the sex-hormone-binding globulin gene and is likely associated with early puberty [ 11 , 12 ]. GNRHR is gonadotropin-releasing hormone receptor, and the activation of the receptor ultimately causes the release of gonadotropic luteinizing hormone (LH) and follicle-stimulating hormone (FSH) [ 13 ].…”

Section: Resultsmentioning

confidence: 99%

A Million-Cow Genome-Wide Association Study of Three Fertility Traits in U.S. Holstein Cows

Liang

Prakapenka

VanRaden

et al. 2023

IJMS

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A genome-wide association study (GWAS) of the daughter pregnancy rate (DPR), cow conception rate (CCR), and heifer conception rate (HCR) using 1,001,374–1,194,736 first-lactation Holstein cows and 75,140–75,295 SNPs identified 7567, 3798, and 726 additive effects, as well as 22, 27, and 25 dominance effects for DPR, CCR, and HCR, respectively, with log10(1/p) > 8. Most of these effects were new effects, and some new effects were in or near genes known to affect reproduction including GNRHR, SHBG, and ESR1, and a gene cluster of pregnancy-associated glycoproteins. The confirmed effects included those in or near the SLC4A4-GC-NPFFR2 and AFF1 regions of Chr06 and the KALRN region of Chr01. Eleven SNPs in the CEBPG-PEPD-CHST8 region of Chr18, the AFF1-KLHL8 region of Chr06, and the CCDC14-KALRN region of Chr01 with sharply negative allelic effects and dominance values for the recessive homozygous genotypes were recommended for heifer culling. Two SNPs in and near the AGMO region of Chr04 that were sharply negative for HCR and age at first calving, but slightly positive for the yield traits could also be considered for heifer culling. The results from this study provided new evidence and understanding about the genetic variants and genome regions affecting the three fertility traits in U.S. Holstein cows.

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“…Specifically, both overexpression of insulin receptor (INSR) in the ovaries of non-obese PCOS patients and its underexpression in metabolic tissues of obese PCOS patients results in feedback mechanisms for excess ovarian androgen production ( 22 ). Moreover, offspring of women with PCOS are more likely to have metabolic and congenital anomalies compared to those from healthy women ( 49 , 51 , 52 ). Notably, brothers/sons of women with PCOS have elevated androgen levels ( 53 ), increased total cholesterol and low density lipoproteins levels at puberty ( 16 ), decreased insulin sensitivity (independent of obesity) and glucose tolerance ( 12 ), among other symptoms.…”

Section: Discussionmentioning

confidence: 99%

Genes in loci genetically associated with polycystic ovary syndrome are dynamically expressed in human fetal gonadal, metabolic and brain tissues

et al. 2023

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BackgroundPolycystic ovary syndrome (PCOS) is a heterogeneous disorder, affecting around 10% of women of reproductive age, with infertility, depression or anxiety, obesity, insulin resistance and type 2 diabetes as risk factors. The cause of PCOS is not known but there is a predisposition to developing PCOS in adult life that arises during fetal or perinatal life. PCOS also has a genetic predisposition and a number of genetic loci associated with PCOS have been identified. These loci contain 25 candidate genes which are currently being studied to define the syndrome. Although the name PCOS suggests a syndrome of the ovary, PCOS has also been associated with the central nervous system and other organ systems in the body due to the wide variety of symptoms it presents.MethodsHere, we examined the expression patterns of PCOS candidate genes in gonadal (ovary and testis), metabolic (heart, liver and kidney) and brain (brain and cerebellum) tissues during the first half of human fetal development and postnatally until adulthood using public RNA sequencing data. This study is an initial step for more comprehensive and translational studies to define PCOS.ResultsWe found that the genes were dynamically expressed in the fetal tissues studied. Some genes were significantly expressed in gonadal tissues, whilst others were expressed in metabolic or brain tissues at different time points prenatally and/or postnatally. HMGA2, FBN3 and TOX3 were highly expressed during the early stages of fetal development in all tissues but least during adulthood. Interestingly, correlation between expression of HMGA2/YAP1 and RAD50/YAP1 were significant in at least 5 of the 7 fetal tissues studied. Notably, DENND1A, THADA, MAPRE1, RAB5B, ARL14EP, KRR1, NEIL2 and RAD50 were dynamically expressed in all postnatal tissues studied.ConclusionsThese findings suggest that these genes have tissue- or development-specific roles in multiple organs, possibly resulting in the various symptoms associated with PCOS. Thus the fetal origin of a predisposition to PCOS in adulthood could arise via the effects of PCOS candidate genes in the development of multiple organs.

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Daughters of polycystic ovary syndrome pregnancies and androgen levels in puberty: a Meta-analysis

Cited by 5 publications

References 57 publications

Genome-Wide Association Study of Age at First Calving in U.S. Holstein Cows

Genome-Wide Association Study of Age at First Calving in U.S. Holstein Cows

A Million-Cow Genome-Wide Association Study of Three Fertility Traits in U.S. Holstein Cows

Genes in loci genetically associated with polycystic ovary syndrome are dynamically expressed in human fetal gonadal, metabolic and brain tissues

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