CAG repeat polymorphism in androgen receptor gene is not directly associated with polycystic ovary syndrome but influences serum testosterone levels

Škrgatić, Lana; Baldani, Dinka Pavičić; Černe, Jasmina-Živa; Ferk, Polonca; Geršak, Ksenija

doi:10.1016/j.jsbmb.2011.11.006

Cited by 47 publications

(44 citation statements)

References 28 publications

(38 reference statements)

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“…These results were contrary to one previous study [30]. Skrgatic et al [30] observed that the mean CAG repeat length in PCOS was higher than in controls, although no significant differences, and that the distribution of the CAG repeats showed no significant difference as well. Both our study and Skrgatic et al study used the cut-off value 22 for the short mean repeat and long mean repeat.…”

Section: Discussioncontrasting

confidence: 91%

“…After carefully reviewing, finally, ten studies [23][24][25][26][27][28][29][30][31][32] and current article with 1,536 PCOS patients and 1,807 controls were included in this metaanalysis. The flow diagram of study selection was presented in Fig.…”

Section: Eligible Studymentioning

confidence: 99%

“…Thus a large number of studies have been conducted to investigate the relationship between AR gene CAG repeats and PCOS, however, with inconsistent results [19,[23][24][25][26][27][28][29][30][31][32][33]. Based on these inconsistent results, we performed current study to research this association and meta-analysis.…”

Section: Introductionmentioning

confidence: 99%

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The association between androgen receptor gene CAG polymorphism and polycystic ovary syndrome: a case-control study and meta-analysis

Peng

Xie

Guo

et al. 2014

J Assist Reprod Genet

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Purpose Many studies have been carried out to confirm the relationship between androgen receptor gene CAG repeat polymorphism and polycystic ovary syndrome (PCOS), without consistent results. Hence we conducted the current study to research this relationship. Methods 224 Chinese Han women with PCOS and 223 in vitro fertilization and embryo transplantation (IVF-ET) infertile women with tubal factor or male infertility served as the controls were recruited in our study. PCR-based assays were applied to genotype the (CAG) n repeat alleles. A metaanalysis including 1,536 PCOS patients and 1,807 controls was conducted to produce a pooled estimate. Results We observed that the CAG bi-allelic mean lengths were similar in PCOS patients and controls (22.65±2.5 vs. 23.09±2.1, P=0.116). When CAG bi-allelic were divided into two categories (mean repeats ≤22, >22), the short AR-CAG bi-allelic showed more frequent in PCOS group than in controls (56.25 % vs 29.14 %, P<0.001). Further analysis presented that, in PCOS, there was a lower mean CAG repeat lengths in mean bi-allelic lengths (22.3±2.5 vs. 23.9±2.2, P= 0.008) and long bi-allelic lengths (24.3±1.4 vs. 25.9±1.6, P= 0.05) among patients with testosterone less than 0.7 ng/ml compared with those whose testosterone was more than 0.7 ng/ml. Besides, the testosterone were positively correlated with the CAG polymorphism (r=0.237, P=0.008), which accorded with our meta-analysis results. Conclusions The distribution of AR-CAG allele differed between PCOS patients and controls, and polymorphism of CAG repeat lengths may contribute to hyperandrogenism in PCOS.

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Section: Discussioncontrasting

confidence: 91%

Section: Eligible Studymentioning

confidence: 99%

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The association between androgen receptor gene CAG polymorphism and polycystic ovary syndrome: a case-control study and meta-analysis

Peng

Xie

Guo

et al. 2014

J Assist Reprod Genet

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“…Obesity is seen in 30-75 % of women with this infertility disorder and over 40 genes have been implicated in the hormonal and metabolic derangements seen in this syndrome [9][10][11][12][13][14]. Some of these genes are involved in both hormone and related protein production.…”

Section: Discussionmentioning

confidence: 99%

“…Obesity and infertility are both influenced by genetic and environmental factors with over 370 obesity genes and 153 infertility and reproductive genes reported [9]. There are over 40 genes including the androgen receptor (AR) gene that plays a role in polycystic ovarian syndrome (PCOS), an endocrine condition that affects 5-10 % of women [9][10][11][12][13][14]. The androgen receptor is a steroid hormone-activated transcription factor key to regulating androgen activity in both males and females and responsible for secondary sexual characteristics, sex hormone responses and infertility in both sexes.…”

Section: Introductionmentioning

confidence: 99%

Androgen receptor (AR) gene CAG trinucleotide repeat length associated with body composition measures in non-syndromic obese, non-obese and Prader-Willi syndrome individuals

Butler

Manzardo

2015

J Assist Reprod Genet

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Purpose Total body mass impacts reproductive health and infertility which has increased in the United States with rising rates of obesity. Overlapping genetic and environmental factors contribute to obesity and infertility including the androgen receptor (AR), a steroid hormone-activated transcription factor that is key in regulating androgen activity and sensitivity to sex hormones, weight and body composition in both males and females. The AR gene which is X-linked contains a polymorphic CAG trinucleotide repeat which varies in length and inversely correlated with gene expression. Methods We examined the AR gene CAG repeat length and measures of weight and body mass index (BMI) in 27 nonsyndromic obese and 33 lean controls and for the first time compared with 28 individuals with Prader-Willi syndrome (PWS), a rare obesity-related genetic disorder with natural sex hormone deficits to examine the effects of AR gene CAG repeat length on androgen-mediated response and obesityrelated factors relevant to human infertility and reproduction.Results Mean CAG repeat length in base pairs (278±7.9) did not significantly differ by subject group (F=2.6, p=0.08) but was strongly positively correlated with height standard deviation (SD) among males (r=0.31, p<0.05), mainly lean and obese, but not PWS (r=0.02, p=0.94). A negative correlation was observed for weight SD among females (r = −0.29, p<0.04) when grouped together. Conclusions The results were consistent with an androgenmediated effect on height and weight negligible in PWS and supporting the role of sex horomones and AR gene interaction in obesity and infertility, both cardinal features of PWS. CAG repeat length of the AR gene is a marker for increased androgen sensitivity with shorter lengths predicting smaller stature in non-PWS adult males possibly due to accelerating fusion of bone growth plates and reducing the growth phase. Increased androgen effects from shorter CAG repeat lengths in non-PWS females could impact pregnancy-related weight gain and pregnancy outcomes.

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Revisiting the relationships of 2D:4D with androgen receptor (AR) gene and current testosterone levels: Replication study and meta‐analyses

Zhang

Yang

zhang

et al. 2019

J of Neuroscience Research

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The relationships of digit ratio (2D:4D) with the length of AR (CAG)n, and testosterone levels from saliva and blood have been extensively debated over the years. This research including three studies further clarifies such controversies. To do so, we re‐examined the relationships between the length of AR (CAG)n, 2D:4D, and current testosterone levels, through replication study and meta‐analysis for each study. The results indicate: (a) the length of AR (CAG)n is not significantly associated with 2D:4D; (b) current testosterone levels are not significantly associated with the ratio; and (c) the length is not significantly associated with testosterone levels. Thus, AR (CAG)n and current testosterone levels are not significantly related to 2D:4D at individual level.

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CAG repeat polymorphism in androgen receptor gene is not directly associated with polycystic ovary syndrome but influences serum testosterone levels

Cited by 47 publications

References 28 publications

The association between androgen receptor gene CAG polymorphism and polycystic ovary syndrome: a case-control study and meta-analysis

The association between androgen receptor gene CAG polymorphism and polycystic ovary syndrome: a case-control study and meta-analysis

Androgen receptor (AR) gene CAG trinucleotide repeat length associated with body composition measures in non-syndromic obese, non-obese and Prader-Willi syndrome individuals

Revisiting the relationships of 2D:4D with androgen receptor (AR) gene and current testosterone levels: Replication study and meta‐analyses

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