Familial analysis of candidate genes for polycystic ovary syndrome (2023)

Abstract

Context: Polycystic ovary syndrome (PCOS) is a complex disease that has both genetic and environmental components. Several association studies based on candidate genes have reported significant association, but few have been replicated. D19S884, a polymorphic marker in fibrillin 3 (FBN3), is one of the few association findings that has been replicated in independent family groups. Aim: The aims of the study are: 1) genotyping of single nucleotide polymorphisms (SNPs) in the D19S884 region; and 2) follow-up with an independent data set of published results providing evidence of associations of candidate genes for PCOS. Design: The Transmission Disequilibrium Test (TDT) was used to analyze the linkage and association between PCOS and SNPs in candidate genes that we and others had previously reported to be significantly associated with PCOS. Setting: The study was conducted at academic medical centers. Patients or other participants: A total of 453 families with a subject with PCOS took part in the study. Sisters with PCOS were also included. There were a total of 502 subjects and nurses with PCOS. Intervention(s): There were no interventions. Main outcome measure(s): The outcome measure was frequency of transmission of SNP alleles. Results: We identified a six-SNP haplotype block spanning a 6.7 kb region on chromosome 19p13.2 that also includes D19S884. The SNP haplotype allele C alone and in combination with the D19S884 allele 8 is significantly associated with PCOS: Haplotype-C TDT χ2= 10.0 (P = 0.0016) y Haplotyp-C/A8 TDT x2= 7.6 (P = 0.006). The SNPs in four of the other 26 putative candidate genes tested with TDT were nominally significant (ACVR2A, POMC, FEM1B and SGTA). A SNP in POMC (rs12473543, χ2= 9,1; PAGcorrected= 0.042) is significant after correcting several tests. Conclusions: A polymorphic variant, D19S884, in FBN3 is associated with PCOS risk. POMC is also an interesting candidate gene.

UrspracheEnglish
Pages (from-to)2306-2315
page number10
diaryJournal of Clinical Endocrinology and Metabolism
Volume95
issue number5
Of the
ConditionPublished -May 2010
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Ewens, K. G., Stewart, D. R., Ankener, W., Urbanek, M., McAllister, J. M., Baig, K. M., Parker, S. C. J., Margulies, E. H., Legro, R. S., Dunaif , A. ( 1999 )., Strauss, J.F. and Spielman, R.S. (2010).Familial analysis of candidate genes for polycystic ovary syndrome.Journal of Clinical Endocrinology and Metabolism,95(5), 2306-2315.https://doi.org/10.1210/jc.2009-2703

Ewens, Kathryn G.; Stewart, Douglas R.; Ankener, Wendy et al. /Familial analysis of candidate genes for polycystic ovary syndrome. In:Journal of Clinical Endocrinology and Metabolism. 2010; Bd. 95, Nr. 5. S. 2306-2315.

@article{0a41d5d89bd64b009b07ac777add7eb6,

title = "Family Analysis of Candidate Genes for Polycystic Ovary Syndrome",

abstract="Background: Polycystic ovary syndrome (PCOS) is a complex disease that has both genetic and environmental components. Several association studies based on candidate genes have reported a significant association, but few have been replicated. D19S884, a in fibrillin 3 polymorphic marker (FBN3) is one of the few association findings that has been replicated in independent sets of families Aim: The aims of the study are: 1) genotyping single nucleotide polymorphisms (SNPs) in the region of D19S884 and 2) tracking -up with an independent data set, published results providing evidence for associations of PCOS candidate genes.Design: The Transmission Disequilibrium Test (TDT) was used to analyze the linkage and association between PCOS and SNPs in candidate genes that we and others have previously discussed reported were significantly associated with PCOS cessation: The study was conducted at academic medical centers. Patients or other participants: A total of 453 families in which one subject had PCOS took part in the study. Sisters with PCOS were also included. There were a total of 502 subjects and nurses with PCOS. Intervention(s): There were no interventions. Main outcome measure(s): The outcome measure was frequency of transmission of SNP alleles. Results: We identified a six-SNP haplotype block spanning a 6.7 kb region on chromosome 19p13.2 that also includes D19S884. SNP haplotype allele C alone and in combination with D19S884 allele 8 is significantly associated with PCOS: haplotype-C TDT χ2=10.0 (P=0.0016) and haplotype-C/A8 TDT χ2=7.6 (P=0.006). The SNPs in four of the other 26 putative candidate genes tested with TDT were nominally significant (ACVR2A, POMC, FEM1B and SGTA). One SNP in POMC (rs12473543, χ2 = 9.1; Pcorrected = 0.042) is significant after correction for multiple tests. Conclusions: A polymorphic variant, D19S884, in FBN3 is associated with PCOS risk. POMC is also an interesting candidate gene.

author = "Ewens, {Kathryn G.} y Stewart, {Douglas R.} y Wendy Ankener y Margrit Urbanek y McAllister, {Jan M.} y Baig, {K. Maravet} y Parker, {Stephen C.J.} y Margulies, {Elliot H.} y Legro, {Richard S.} y Andrea Dunaif y Strauss, {Jerome F.} y Spielman, {Richard S.}",

year = "2010",

month = May,

doi = "10.1210/jc.2009-2703",

language="English",

volume = "95",

pages="2306--2315",

Journal = „Journal of Clinical Endocrinology and Metabolism“,

issn = „0021-972X“,

Publisher = "Endocrine Society",

number = "5",

}

Ewens , KG , Stewart , DR , Ankener , W , Urbanek , M , McAllister , JM , Baig , KM , Parker , SCJ , Margulies , EH , Legro , RS, Dunaif , A. ( 1999 )., Strauss, JF y Spielman, RS 2010, 'Familial analysis of candidate genes for polycystic ovary syndrome',Journal of Clinical Endocrinology and Metabolism, vol. 95, no. 5, pp. 2306-2315.https://doi.org/10.1210/jc.2009-2703

Familial analysis of candidate genes for polycystic ovary syndrome./Ewens, Kathryn G.; Stewart, Douglas R.; Ankener, Wendy et al.
In:Journal of Clinical Endocrinology and Metabolism, Bd. 95, Nr. 5, 05.2010, S. 2306-2315.

research result:contribution to the journalArticlePeer-Review

YOU - TAG

T1 - Analysis based on the candidate gene family for polycystic ovary syndrome

Australia—Ewens, Kathryn G.

Australia - Stewart, Douglas R.

Australia – Appeals, Wendy

ES - Urbanek, Margrit

Australia - McAllister, Jan M.

AU – Baig, K. Maravet

Australia - Parker, Stephen C.J.

AU – Margulies, Elliot H.

AU - Legro, Richard S.

DE - Dunaif, Andrea

AU - Strauss, Jerome F.

Australia—Spielman, Richard S.

Financial year - 2010/5

Year 1 – 2010/5

N2 - Context: Polycystic ovary syndrome (PCOS) is a complex disease that has both genetic and environmental components. Several association studies based on candidate genes have reported significant association, but few have been replicated. D19S884, a polymorphic marker in fibrillin 3 (FBN3), is one of the few association findings that has been replicated in independent family groups. Aim: The aims of the study are: 1) genotyping of single nucleotide polymorphisms (SNPs) in the D19S884 region; and 2) follow-up with an independent data set of published results providing evidence of associations of candidate genes for PCOS. Design: The Transmission Disequilibrium Test (TDT) was used to analyze the linkage and association between PCOS and SNPs in candidate genes that we and others had previously reported to be significantly associated with PCOS. Setting: The study was conducted at academic medical centers. Patients or other participants: A total of 453 families with a subject with PCOS took part in the study. Sisters with PCOS were also included. There were a total of 502 subjects and nurses with PCOS. Intervention(s): There were no interventions. Main outcome measure(s): The outcome measure was frequency of transmission of SNP alleles. Results: We identified a six-SNP haplotype block spanning a 6.7 kb region on chromosome 19p13.2 that also includes D19S884. SNP haplotype allele C alone and in combination with D19S884 allele 8 is significantly associated with PCOS: haplotype-C TDT χ2=10.0 (P=0.0016) and haplotype-C/A8 TDT χ2=7.6 (P=0.006). The SNPs in four of the other 26 putative candidate genes tested with TDT were nominally significant (ACVR2A, POMC, FEM1B and SGTA). One SNP in POMC (rs12473543, χ2 = 9.1; Pcorrected = 0.042) is significant after correction for multiple tests. Conclusions: A polymorphic variant, D19S884, in FBN3 is associated with PCOS risk. POMC is also an interesting candidate gene.

AB - Context: Polycystic ovary syndrome (PCOS) is a complex disease that has both genetic and environmental components. Several association studies based on candidate genes have reported significant association, but few have been replicated. D19S884, a polymorphic marker in fibrillin 3 (FBN3), is one of the few association findings that has been replicated in independent family groups. Aim: The aims of the study are: 1) genotyping of single nucleotide polymorphisms (SNPs) in the D19S884 region; and 2) follow-up with an independent data set of published results providing evidence of associations of candidate genes for PCOS. Design: The Transmission Disequilibrium Test (TDT) was used to analyze the linkage and association between PCOS and SNPs in candidate genes that we and others had previously reported to be significantly associated with PCOS. Setting: The study was conducted at academic medical centers. Patients or other participants: A total of 453 families with a subject with PCOS took part in the study. Sisters with PCOS were also included. There were a total of 502 subjects and nurses with PCOS. Intervention(s): There were no interventions. Main outcome measure(s): The outcome measure was frequency of transmission of SNP alleles. Results: We identified a six-SNP haplotype block spanning a 6.7 kb region on chromosome 19p13.2 that also includes D19S884. SNP haplotype allele C alone and in combination with D19S884 allele 8 is significantly associated with PCOS: haplotype-C TDT χ2=10.0 (P=0.0016) and haplotype-C/A8 TDT χ2=7.6 (P=0.006). The SNPs in four of the other 26 putative candidate genes tested with TDT were nominally significant (ACVR2A, POMC, FEM1B and SGTA). One SNP in POMC (rs12473543, χ2 = 9.1; Pcorrected = 0.042) is significant after correction for multiple tests. Conclusions: A polymorphic variant, D19S884, in FBN3 is associated with PCOS risk. POMC is also an interesting candidate gene.

URL: http://www.scopus.com/inward/record.url?scp=77952781592&partnerID=8YFLogxK

U2 – 10.1210/jc.2009-2703

DO – 10.1210/jc.2009-2703

M3 - artillery

C2 - 20200332

AN - SCOPUS:77952781592

Serial number - 0021-972X

VL-95

SP-2306

EP-2315

JO – Journal of Clinical Endocrinology and Metabolism

JF – Journal of Clinical Endocrinology and Metabolism

ES - 5

ES -

Ewens KG, Stewart DR, Ankener W, Urbanek M, McAllister JM, Baig KM et al.Familial analysis of candidate genes for polycystic ovary syndrome.Journal of Clinical Endocrinology and Metabolism. 2010 Mayo;95(5):2306-2315. doi: 10.1210/jc.2009-2703

FAQs

What are the candidate genes for PCOS? ›

Table 1
Marker locusGene symbolCandidate gene
D15S520CYP11ACYP11A-cytochrome P450 side-chain cleavage enzyme
D10S192CYP17CYP17-cytochrome P450 17α-hydroxylase/17,20-desmolase
CYP19CYP19CYP19-cytochrome P450 aromatase
D17S934HSD17B117 β-hydroxysteroid dehydrogenase, type I
46 more rows

Is PCOS inherited from mother or father? ›

Daughters were nearly eight times as likely to have PCOS if their mothers had it, and they had a slightly higher risk if their mothers smoked during pregnancy.

Does polycystic ovary syndrome run in families? ›

Genetics. PCOS sometimes runs in families. If any relatives, such as your mother, sister or aunt, have PCOS, the risk of you developing it is often increased. This suggests there may be a genetic link to PCOS, although specific genes associated with the condition have not yet been identified.

Will my daughter inherit PCOS? ›

PCOS often runs in families. Up to 70 percent of daughters of women with PCOS also develop it, but genetic variation doesn't fully explain the high incidence within families—some genome-wide association studies of PCOS susceptibility reckon genetics explains less than 10 percent of the condition's heritability.

What are the 3 qualifiers for PCOS? ›

Polycystic ovary syndrome (PCOS) is a complex condition that is most often diagnosed by the presence of two of the three following criteria: hyperandrogenism, ovulatory dysfunction, and polycystic ovaries.

What qualifiers for PCOS? ›

Diagnosis criteria

you have irregular periods or infrequent periods – this indicates that your ovaries do not regularly release eggs (ovulate) blood tests showing you have high levels of "male hormones", such as testosterone (or sometimes just the signs of excess male hormones, even if the blood test is normal)

How likely am I to get PCOS if my mom has it? ›

In some cases, PCOS is genetic. If your mother or sister has PCOS, then you have a greater chance (roughly 30 to 40 percent) of developing it.

How did my daughter get PCOS? ›

What are the causes of Adolescent Polycystic Ovarian Syndrome (PCOS)? The exact cause is not known, but there appears to be a genetic component as it tends to run in families. Teens with PCOS are also found to have increased levels of male hormones and resistance to insulin.

Are people with PCOS more likely to have a boy or girl? ›

Results: No significant difference in sex ratio was detected between PCOS and controls, even if it resulted significantly different in the full-blown and non-PCO phenotypes.

What does a PCOS belly look like? ›

PCOS belly refers to the abdominal fat causing an increased waist-to-hip ratio, PCOS Belly will look like an apple-shaped belly rather than a pear-shaped belly. One of the most common symptoms of PCOS is weight gain, particularly around the abdominal area.

Is polycystic ovaries a disability? ›

The Equality Act 2010 (the Act), may protect some people with endometriosis and polycystic ovary syndrome as well as other chronic conditions on the grounds of disability.

What age does polycystic ovary syndrome start? ›

It's common for women to find out they have PCOS when they have trouble getting pregnant, but it often begins soon after the first menstrual period, as young as age 11 or 12. It can also develop in the 20s or 30s.

What percentage of people with PCOS can't have kids? ›

It's also important to keep in mind that just because a woman has PCOS doesn't mean that she also has infertility. As one study points out, 70 to 80 percent of these women are infertile. (5) That leaves up to 30 percent of women who may become pregnant on their own without the use of fertility treatments.

Why was I born with PCOS? ›

Causes. The exact cause of PCOS isn't known but it's thought to be caused by a hormone and metabolic (the chemical reactions in the body's cells that change food into energy) imbalance in the body. PCOS can run in families so if someone in your family has the condition, it's more likely you may have it too.

How do you prove you have PCOS? ›

Diagnostic Tests

To receive a diagnosis of PCOS, you must meet two of the following criteria: irregular ovulation, which is usually indicated by an irregular menstrual cycle or a lack of a cycle. signs of increased androgen levels or a blood test confirming you have increased levels. multiple small cysts on the ovaries.

What are the 5 pillars of PCOS? ›

Science-backed 5 Pillar Approach

Reverse PCOS for good by building lasting habits across Five Pillars: nutrition, exercise, sleep, stress, and consistency.

Is PCOS high risk COVID? ›

PCOS has strong ties to conditions that put people at higher risk for severe COVID-19, like obesity, diabetes and heart disease. Learn more about comorbidities. One U.K. study found that women with PCOS have a 51% increased risk for COVID-19 infection, compared to others their age who did not have PCOS.

What are serious cases of PCOS? ›

What are the complications of PCOS? Women with PCOS are more likely to develop certain serious health problems. These include type 2 diabetes, high blood pressure, problems with the heart and blood vessels, and uterine cancer. Women with PCOS often have problems with their ability to get pregnant (fertility).

What are the 4 types of PCOS? ›

There are four types of PCOS: Insulin-resistant PCOS, Inflammatory PCOS, Hidden-cause PCOS, and Pill-induced PCOS.
  • Insulin-resistant PCOS. This is the most common type of PCOS. ...
  • Pill-induced PCOS. This type is the second most common PCOS. ...
  • Inflammatory PCOS. ...
  • Hidden PCOS.

What not to have if you have PCOS? ›

Foods to Avoid with PCOS
  • Fried foods (French fries, potato chips, corn chips and fried chicken or fish)
  • Saturated fats such as butter or margarine.
  • Red meat, including hamburgers, roast beef and steaks, processed luncheon meat and hot dogs.
  • Processed snacks: cakes, cookies, candy and pies.

What type of PCOS is inflammatory? ›

Inflammatory PCOS isn't a specific type of PCOS. Most people with PCOS have elevated levels of chronic inflammation. Chronic inflammation and PCOS are linked to a number of potential complications, including type 2 diabetes and obesity.

Who are most likely to have PCOS? ›

Women whose mother or sister has PCOS or type 2 diabetes are more likely to develop PCOS. Lifestyle can have a big impact on insulin resistance, especially if a woman is overweight because of an unhealthy diet and lack of physical activity. Insulin resistance also runs in families.

What are the 4 phenotypes of PCOS? ›

PCOS phenotypes are currently classified as phenotype-A (HA + OD + PCOM), phenotype-B (HA + OD), phenotype-C (HA + PCOM), and phenotype-D (OD + PCOM). Phenotype-A is more common in subjects identified in clinical populations, whereas phenotype-C is more common in unselected populations.

What are the biomarkers for PCOS? ›

Serological testing for PCOS includes six hormones: LH, FSH, progesterone, estrogen, androgen and prolactin [19]. The combination with other serum biomarkers may increase the accuracy and specificity of PCOS detection.

References

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