Long CAG repeats in the<i>AR</i>gene are not associated with infertility in Finnish males

Lund, Annastiina; Tapanainen, Juha S.; Lähdetie, Jaana; Savontaus, Marja‐Liisa; Aittomäki, Kristiina

doi:10.1034/j.1600-0412.2003.00068.x

Cited by 30 publications

(29 citation statements)

References 31 publications

(37 reference statements)

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“…These results were consistent with other studies in which no association was found (Dadze et al, 2000;Sasagawa et al, 2001;Van Golde et al, 2002;Rajpert-De Meyts et al, 2002;Lund et al, 2003;Martinez-Garza et al, 2008;Badran et al, 2009), but discordant with other studies that did find associations (Tut et al, 1997;Komori et al, 1999;Dowsing et al, 1999;Yoshida et al, 1999;Mifsud et al, 2001;Patrizio et al, 2001;Wallerand et al, 2001;Mengual et al, 2003;Katagiri et al, 2006). However, for CAG repeats >23, risks of >1.2-fold and >1.8-fold were found in azoospermia and severe oligospermia compared to the controls, although CAG repeat length was not significantly correlated with sperm counts in azoospermia and severe oligospermia.…”

Section: Discussionsupporting

confidence: 83%

“…Several epidemiological studies have suggested a significant, albeit modest, impact of the repeat on clinical androgenic effects, with the GGN repeat being associated with the risk of prostate cancer (Hakimi et al, 1997), alopecia (Hillmer et al, 2005), hypospadias (Aschim et al, 2004), and breast cancer (González et al, 2007). Previous studies have reported inconsistent results on GGN lengths in fertile men (Tut et al, 1997;Lund et al, 2003;Ferlin et al, 2004;Ruhaye et al, 2004;Castro-Nallar et al, 2010).…”

Section: Discussionmentioning

confidence: 95%

“…Previous studies on CAG repeats in infertile men have reported conflicting results. Some suggested no expansion (Dadze et al, 2000;Sasagawa et al, 2001;Van Golde et al, 2002;Rajpert-De Meyts et al, 2002;Lund et al, 2003;MartinezGarza et al, 2008;Badran et al, 2009), while others reported increased length (but still within the normal range) with respect to controls (Tut et al, 1997;Dowsing et al, 1999;Yoshida et al, 1999;Mifsud et al, 2001;Patrizio et al, 2001;Wallerand et al, 2001;Mengual et al, 2003;Katagiri et al, 2006). Only one study indicated that reduced CAG repeats are closely associated with impaired spermatogenesis in infertile men (Komori et al, 1999).…”

Section: Discussionmentioning

confidence: 99%

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Cytogenetic and molecular analysis of infertile Chinese men: karyotypic abnormalities, Y-chromosome microdeletions, and CAG and GGN repeat polymorphisms in the androgen receptor gene

Han¹,

Jing²,

Ding³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. Chromosome abnormalities, Y-chromosome microdeletions, and androgen receptor gene CAG and GGN repeat polymorphisms in infertile Chinese men featuring severe oligospermia and azoospermia were analyzed. Ninety-six fertile men and 189 non-obstructive infertile men, including 125 patients with azoospermia and 64 with severe oligozoospermia, were studied. Seventeen infertile men (9.0%) carried a chromosome abnormality. Twenty (10.6%) carried a Y-chromosome microdeletion. In the remainder of the patients and controls, GGN and CAG repeats were sequenced. Short GGN repeats (n < 23) appeared to be associated with defective spermatogenesis, with the number of GGN repeats strongly correlated with sperm counts. No significant difference in CAG repeats was found between patients and con- trols, nor were CAG repeats correlated with sperm counts. However, for CAG repeats ranging between 24 and 25, there was a >2.5-fold risk (OR = 2.539, 95%CI = 1.206-5.344, P < 0.05) of severe oligospermia and azoospermia. Our results confirmed the significant role of chromosome abnormalities, Y-chromosome microdeletions, and GGN repeats in Chinese male infertility.

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Section: Discussionsupporting

confidence: 83%

Section: Discussionmentioning

confidence: 95%

Section: Discussionmentioning

confidence: 99%

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Cytogenetic and molecular analysis of infertile Chinese men: karyotypic abnormalities, Y-chromosome microdeletions, and CAG and GGN repeat polymorphisms in the androgen receptor gene

Han¹,

Jing²,

Ding³

et al. 2013

Genet. Mol. Res.

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“…This finding was then corroborated by several studies from a variety of different ethnic populations including Japanese, Caucasian, North American, French, Israeli, Taiwanese and Spanish (Yoshida et al 1999;Dowsing et al 1999;Mifsud et al 2001;Wallerand et al 2001;Patrizio et al 2001;Madgar et al 2002;Pan et al 2002;Casella et al 2003;Asatiani et al 2003;Mengual et al 2003). However, several others, who have investigated Swedish, Belgian, German, Japanese, Danish, Dutch, Indian, Greek, New Zealander, Finish, Hong Kong Chinese and Italian populations were unable to demonstrate an association (Giwercman et al 1998;Legius et al 1999;Hiort et al 1999;Dadze et al 2000;Sasagawa et al 2000Sasagawa et al , 2001Von Eckardstein et al 2001;Yu and Handelsman 2001;Kukuvitis et al 2002;Rajpert-De Meyts et al 2002;Van Golde et al 2002;Thangaraj et al 2002;Dhillon and Husain 2003;Erasmuson et al 2003;Lund et al 2003;Tse et al 2003;Ferlin et al 2004). Interestingly, a study by Komori et al (1999) has suggested that reduction rather than expansion of the CAG repeat (< 16 repeats) is closely related to impaired sperm production in an infertile Japanese population.…”

Section: Discussionmentioning

confidence: 99%

“…decade (Tut et al 1997;Yoshida et al 1999;Dowsing et al 1999;Mifsud et al 2001;Patrizio et al 2001;Wallerand et al 2001;Madgar et al 2002;Pan et al 2002;Asatiani et al 2003;Casella et al 2003;Mengual et al 2003), whereas several others were unable to demonstrate an association (Giwercman et al 1998;Hiort et al 1999;Legius et al 1999;Dadze et al 2000;Sasagawa et al 2000Sasagawa et al , 2001Von Eckardstein et al 2001;Yu and Handelsman 2001;Rajpert-De Meyts et al 2002;Van Golde et al 2002;Thangaraj et al 2002;Kukuvitis et al 2002;Erasmuson et al 2003;Dhillon and Husain 2003;Lund et al 2003;Tse et al 2003;Ferlin et al 2004). Thus, the ethnic background of the population studied may play an important role in the correlation between CAG repeat length and male infertility.…”

mentioning

confidence: 99%

No Association of the CAG Repeat Length in Exon 1 of the Androgen Receptor Gene with Idiopathic Infertility in Turkish Men: Implications and Literature Review

Tufan

Şatıroğlu-Tufan

Aydınuraz³

et al. 2005

Tohoku J. Exp. Med.

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While the correlation between the CAG repeat length of the androgen receptor (AR) gene and idiopathic male infertility is still unclear, ethnic background of the population studied may play an important role in this association. The objective of this study was to determine whether changes in the CAG repeat length are associated with spermatogenic defects in Turkish infertile men. Reproductive hormone concentrations and the CAG repeat length in exon 1 of the AR gene in 47 idiopathic infertile men and 32 fertile controls were analyzed. The mean serum luteinising hormone (LH) and follicle stimulating hormone (FSH) levels were significantly higher in the infertile group than those of the control group (p < 0.0001 for both comparisons), whereas the mean serum testosterone level in the infertile group did not differ significantly from that in the control group (p = 0.16). The mean CAG repeat length of the AR gene in the infertile group did not differ significantly from that in the control group (22.28 ± 0.37 vs 22.41 ± 0.54, respectively; p = 0.84). In addition, the frequency of having a CAG repeat number ( 24) was also comparable between the infertile patients and fertile controls (31.9% vs 40.6%, respectively; p = 0.21). In conclusion, reproductive hormones with elevated LH and FSH, and normal or low testosterone levels were suggestive of partial impairment of testicular function. However, no statistically significant relationship between the length of the CAG repeat and idiopathic impaired sperm production was observed in the Turkish population studied. These results support the findings of previously published European studies, but are contrary to the findings from Caucasian and North American population studies. Thus, ethnicity and genetic backgrounds seem to be important in this association, and studies from a variety of different ethnic and genetic backgrounds using

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Comparison of NGS panel and Sanger sequencing for genotyping CAG repeats in the AR gene

Rocca

Ferrarini

Msaki

et al. 2020

Molec Gen & Gen Med

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Background The androgen receptor (AR) is a nuclear receptor, encoded by the AR gene on the X chromosome. Within the first exon of the AR gene, two short tandem repeats (STR), CAG and GGC, are a source of polymorphism in the population. Therefore, high‐throughput methods for screening AR, such as next‐generation sequencing (NGS), are sought after; however, data generated by NGS are limited by the availability of bioinformatics tools. Here, we evaluated the accuracy of the bioinformatics tool HipSTR in detecting and quantify CAG repeats within the AR gene. Method The AR gene of 228 infertile men was sequenced using NGSgene panel. Data generated were analyzed with HipSTR to detect CAG repeats. The accuracy was compared with the results obtained with Sanger. Results We found that HipSTR was more accurate than Sanger in genotyping normal karyotype men (46,XY), however, it was more likely to misidentify homozygote genotypes in men with Klinefelter syndrome (47,XXY). Conclusion Our findings show that the bioinformatics tool HipSTR is 100% accurate in detecting and assessing AR CAG repeats in infertile men (46,XY) as well as in men with low‐level mosaicism.

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Long CAG repeats in theARgene are not associated with infertility in Finnish males

Abstract: At least in the present study population from Finland, long CAG repeats in the androgen receptor gene do not play a significant role in spermatogenic failure.

Cited by 30 publications

References 31 publications

Cytogenetic and molecular analysis of infertile Chinese men: karyotypic abnormalities, Y-chromosome microdeletions, and CAG and GGN repeat polymorphisms in the androgen receptor gene

Cytogenetic and molecular analysis of infertile Chinese men: karyotypic abnormalities, Y-chromosome microdeletions, and CAG and GGN repeat polymorphisms in the androgen receptor gene

No Association of the CAG Repeat Length in Exon 1 of the Androgen Receptor Gene with Idiopathic Infertility in Turkish Men: Implications and Literature Review

Comparison of NGS panel and Sanger sequencing for genotyping CAG repeats in the AR gene

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