{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,22]],"date-time":"2024-07-22T14:40:06Z","timestamp":1721659206432},"reference-count":84,"publisher":"Walter de Gruyter GmbH","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,9,25]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec id=\"j_jpem-2018-0547_s_999\"><jats:title id=\"d614445e18991\">Background<\/jats:title><jats:p>Insulin-like 3 hormone (INSL3) is involved in the process of testicular descent, and has been thoroughly studied in cryptorchidism. However, INSL3 allelic variations found in the human genome were heterozygous and only a few of them were found exclusively in patients with cryptorchidism. Under this perspective, we aimed to study the presence of INSL3 allelic variations in a cohort of patients with cryptorchidism and to estimate their potential consequences.<\/jats:p><\/jats:sec><jats:sec id=\"j_jpem-2018-0547_s_998\"><jats:title id=\"d614445e18999\">Methods<\/jats:title><jats:p>Blood samples were collected from 46 male patients with non-syndromic cryptorchidism and from 43 age-matched controls. DNA extraction and polymerase chain reaction (PCR) were performed for exons 1 and 2 of the<jats:italic>INSL3<\/jats:italic>gene in all subjects. Sequencing analysis was carried out on the PCR products. All data were grouped according to testicular location.<\/jats:p><\/jats:sec><jats:sec id=\"j_jpem-2018-0547_s_997\"><jats:title id=\"d614445e19010\">Results<\/jats:title><jats:p>Seven variations of a single nucleotide (SNVs) were identified both in patients with cryptorchidism and in controls: rs2286663 (c.27G\u2009&gt;\u2009A), rs1047233 (c.126A\u2009&gt;\u2009G) and rs6523 (c.178A\u2009&gt;\u2009G) at exon 1, rs74531687 (c.191-30C\u2009&gt;\u2009T) at the intron, rs121912556 (c.305G\u2009&gt;\u2009A) at exon 2 and rs17750642 (c.*101C\u2009&gt;\u2009A) and rs1003887 (c.*263G\u2009&gt;\u2009A) at the untranslated region (UTR). The allelic variants rs74531687 and rs121912556 were found for the first time in the Greek population. The novel homozygotic combination of the three allelic variants rs1047233-rs6523-rs1003887 seemed to present a stronger correlation with more severe forms of cryptorchidism.<\/jats:p><\/jats:sec><jats:sec id=\"j_jpem-2018-0547_s_996\"><jats:title id=\"d614445e19018\">Conclusions<\/jats:title><jats:p>The combination of specific INSL3 SNVs rather than the existence of each one of them alone may offer a new insight into the involvement of allelic variants in phenotypic variability and severity.<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2018-0547","type":"journal-article","created":{"date-parts":[[2019,8,24]],"date-time":"2019-08-24T12:33:38Z","timestamp":1566650018000},"page":"987-994","source":"Crossref","is-referenced-by-count":6,"title":["Novel combined insulin-like 3 variations of a single nucleotide in cryptorchidism"],"prefix":"10.1515","volume":"32","author":[{"given":"Xenophon","family":"Sinopidis","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roza","family":"Mourelatou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eirini","family":"Kostopoulou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexia","family":"Karvela","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea-Paola","family":"Rojas-Gil","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Efstathia","family":"Tsekoura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George","family":"Georgiou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bessie E.","family":"Spiliotis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref11","doi-asserted-by":"crossref","first-page":"1032","DOI":"10.1016\/j.urology.2004.06.051","article-title":"Mutation analysis of INSL3 and GREAT\/LGR8 genes in familial cryptorchidism","volume":"64","year":"2004","journal-title":"J Urol"},{"key":"ref201","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1007\/BF03344168","article-title":"Paracrine and endocrine roles of insulin-like factor 3","volume":"29","year":"2006","journal-title":"J Endocrinol Invest"},{"key":"ref301","doi-asserted-by":"crossref","first-page":"e12788","DOI":"10.1111\/and.12788","article-title":"Single nucleotide polymorphisms associated with nonsyndromic cryptorchidism in Mexican 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