Association of the variations in the HSD3β gene with primary aldosteronism

Wu, Vin‐Cent; Wu, Chi‐Shin; Chang, Yi‐Cheng; Young, Guang-Huar; Chen, Shann-Ching; Yang, Wei‐Shiung; Chen, Chien-Yuan; Wang, Weijie; Lin, Chien‐Yu; Lin, Yen‐Hung; Lin, S.B.; Chueh, Shih-Chieh; Wu, Kwan‐Dun

doi:10.1097/hjh.0b013e328360ef3c

Cited by 9 publications

(6 citation statements)

References 35 publications

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“…Based on these results it was suggested that germline variation in KCNJ5 may contribute to common forms of sporadic PA. Another common single nucleotide polymorphism in KCNJ5, rs2604204, has been shown to be associated with PA in male Chinese subjects in a study including 235 PA (77 BAH, 39 APA, 119 unknown) [27]. In the Han Chinese population, comparison of 362 patients with PA (285 APA and 77 BAH) with 326 essential hypertensives has also shown a significant association between common variants at the HSD3B locus, containing the HSD3B1and HSD3B2 genes on chromosome 1, and PA [28]. These genes code for isoenzymes of the 3β-hydroxysteroid dehydrogenase, involved in the early steps of steroid hormone biosynthesis.…”

Section: Germline Mutations In Sporadic Pa: Towards the Identificatiomentioning

confidence: 97%

Bilateral Idiopathic Adrenal Hyperplasia: Genetics and Beyond

et al. 2015

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Bilateral adrenal hyperplasia currently accounts for up to 2 thirds of cases of primary aldosteronism. As such, it represents a major opportunity for targeted medical management as opposed to unilateral surgically correctable forms of the disease. Although the majority of cases of primary aldosteronism are sporadic, bilateral adrenal hyperplasia may occur in the context of familial hyperaldosteronism where it is associated with specific germline mutations. Over the past 5 years, impressive progress has been made in our understanding of the genetic basis underlying primary aldosteronism, allowing us to identify and characterize new familial forms of the disease and to understand the mechanisms involved in the formation of aldosterone producing adenoma. In contrast, our knowledge of the genetic contribution to the development of bilateral adrenal hyperplasia, and in a larger context, to renin and aldosterone levels in the general population, is still poor. This review summarizes our current knowledge on the genetics of bilateral adrenal hyperplasia and addresses some open questions to be addressed by future research. In particular, genome-wide association studies in large populations may provide clues to understanding the genetic susceptibility underlying the development of primary aldosteronism.

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Section: Germline Mutations In Sporadic Pa: Towards the Identificatiomentioning

confidence: 97%

Bilateral Idiopathic Adrenal Hyperplasia: Genetics and Beyond

et al. 2015

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“…Accordingly, if AKI-dialysis leads to a persistent loss of renal function, then the resulting renal function impairment would account for the increased mortality [48]. Our study findings highlight that, even after adjusting for subsequent CKD or ESRD after hospital discharge, the effect of AKI is still significant.…”

Section: Discussionmentioning

confidence: 77%

Long-Term Outcomes after Dialysis-Requiring Acute Kidney Injury

Shiao

Chang

et al. 2014

BioMed Research International

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“…It is noteworthy that these findings, which are reported in our case, differ from other cases. The frontonasal dysplasia-1 gene is located on 1p13.3, whereas the 3-beta hydroxy steroid dehydrogenase gene is located on the 1p12 band (Twigg et al, 2009;Esmer et al, 2013;Wu et al, 2013). Although there are other genes between these two genes, the probability of deletion should be kept in mind.…”

Section: Discussionmentioning

confidence: 99%

Oculoauriculofrontonasal Dysplasia Syndrome with Additional Clinical Features

Tunç¹,

Polat²,

Altan

et al. 2017

The Cleft Palate Craniofacial Journal

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Oculo-auriculo-vertebral spectrum and frontonasal dysplasia are two well-known examples of dysmorphology syndromes. Oculoauriculofrontonasal syndrome (OAFNS) is a clinical entity involving the characteristics of both OAVS and FND and is thought to be a result of the abnormal development of structures in the first and the second branchial arches, including the abnormal morphogenesis of maxillary processes. Herein we report a case of OAFNS with cliteral hypertrophy, premaxillary teeth, and inguinal hernia, features not previously reported in the literature.

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Association of the variations in the HSD3β gene with primary aldosteronism

Abstract: Risk-conferring genetic variations in the HSD3β gene influenced susceptibility of primary aldosteronism. Concomitant presence of rs6203 CC and rs12410453 GA genotypes synergistically increased aldosterone-to-renin ratio.

Cited by 9 publications

References 35 publications

Bilateral Idiopathic Adrenal Hyperplasia: Genetics and Beyond

Bilateral Idiopathic Adrenal Hyperplasia: Genetics and Beyond

Long-Term Outcomes after Dialysis-Requiring Acute Kidney Injury

Oculoauriculofrontonasal Dysplasia Syndrome with Additional Clinical Features

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