Common variants at 10p12.31, 10q21.1 and 13q12.13 are associated with sporadic pituitary adenoma

Zhao, Ye; Li, Zhiqiang; Wang, Yongfei; Mao, Ying; Shen, Ming; Zhang, Qilin; Li, Shiqi; Zhou, Lei; Shou, Xuefei; Chen, Jianhua; Song, Zhijian; Ma, Zengyi; Zhang, Zhaoyun; Li, Yiming; Ye, Hongying; Huang, Chuanxin; Wang, Tao; He, Wenqiang; Zhang, Yichao; Xie, Rong; Qiao, Na; Qiu, Huijia; Huang, Shan; Wang, Meng; Shen, Jiawei; Wen, Zujia; Li, Wenjin; Liu, Ke; Zhou, Juan; Wang, Lin; Ji, Jue; Wang, Yin; Chen, Hong; Cheng, Haixia; Shi, Zhifeng; Zhu, Yuqian; Geng, Daoying; Yao, Zhenwei; Tang, Weijun; Lü, Bin; Pan, Li; Zhang, Yi; Bao, Weimin; Wu, Jinsong; Zheng, Kang; Shi, Yongyong; Zhao, Yao

doi:10.1038/ng.3322

Cited by 44 publications

(30 citation statements)

References 44 publications

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“…In that study, two markers on chromosome 10 and one on chromosome 13 were associated with elevated PA risk in the Han Chinese population. With ORs ranging from 1.28 to 1.44, these SNPs have modest influence on increased risk for PA development (19). Even www.eje-online.org…”

Section: Discussionmentioning

confidence: 99%

“…Research shows that a wider range of clinically significant adenomas tend to aggregate in families (18). The genetic mechanisms underlying common forms of adenoma are less clear, with multiple genes potentially involved in the pathogenicity of PA. A recent genome-wide association study identified two markers on chromosome 10 and one on chromosome 13 to the presence of sporadic mutations in the Han Chinese population (19). A novel finding suggests Xq26.3 microduplication responsible for sizeable proportion of the infantile pituitary gigantism cases, and further examination of the genes in this region in sporadic acromegaly cases suggests GPR101 as a cause (20).…”

Section: Introductionmentioning

confidence: 94%

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Polymorphisms in MEN1 and DRD2 genes are associated with the occurrence and characteristics of pituitary adenomas

Pečulis

Balcere

Rovīte

et al. 2016

European Journal of Endocrinology

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Objective: Although pituitary adenomas (PAs) affect a significant proportion of the population, only a fraction have the potential to become clinically relevant during an individual's lifetime, causing hormonal imbalance or complications due to mass effect. The overwhelming majority of cases are sporadic and without a clear familial history, and the genotype-phenotype correlation in PA patients is poorly understood. Our aim was to investigate the involvement of genes known for their role in familial cases on drug response and tumor suppression in the development and pathology of PAs in a patient group from Latvia. Design: The study included 143 cases and 354 controls, we investigated the role of single-nucleotide polymorphisms (SNPs) in seven genes (SSTR2, SSTR5, DRD2, MEN1, AIP, GNAS, and PRKAR1A) associated with pituitary tumor occurrence, phenotype, and clinical symptoms. Methods: Genotyping of 96 tag and nonsynonymous SNPs was performed in the genomic regions of interest. Results: We discovered a significant association (OR = 17.8, CI 0.95 = 2.18-145.5, P = 0.0002) between a rare MEN1 mutation (rs2959656) and clinically active adenoma in our patients. Additionally, rs7131056 at DRD2 was associated with a higher occurrence of extrasellar growth in patients with prolactinoma and somatotropinoma (OR = 2.79, CI 0.95 = 1.58-4.95, P = 0.0004). Conclusions: rs2959656, a nonsynonymous variant in MEN1, is associated with the development of clinically active PA. Furthermore, rs7131056 in DRD2 contributes to either faster growth of the adenoma or reduced symptomatic presentation, allowing PAs to become larger before detection.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 94%

Polymorphisms in MEN1 and DRD2 genes are associated with the occurrence and characteristics of pituitary adenomas

Pečulis

Balcere

Rovīte

et al. 2016

European Journal of Endocrinology

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“…The association test of PNPLA3 SNPs (rs1010023, rs738409), demographic (age, sex), anthropometric (height, weight, hipline, and waistline), and biochemical parameters (TBIL, DBIL, AST, ALT, GGT, ALP, INS, FBG, TC, TG, HDL, LDL, UA, and BUN), was carried out by logistic regression using PLINK v1.07 [31, 32]. …”

Section: Methodsmentioning

confidence: 99%

PNPLA3rs1010023 Predisposes Chronic Hepatitis B to Hepatic Steatosis but Improves Insulin Resistance and Glucose Metabolism

Pan

Chen

Zhang

et al. 2017

Journal of Diabetes Research

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PNPLA3 polymorphisms serve as the genetic basis of hepatic steatosis in normal population and lead to dysregulated glucose metabolism. Whether it underlies the hepatic steatosis and glucose homeostasis in chronic hepatitis B patients remains uncertain. Here, we investigated the PNPLA3 polymorphisms in biopsy-proven chronic hepatitis B patients with (CHB+HS group, n = 52) or without hepatic steatosis (CHB group, n = 47) and non-CHB subjects with (HS group, n = 37) or without hepatic steatosis (normal group, n = 45). When compared to the TT genotype, C-allele at PNPLA3 rs1010023 (CC and TC genotypes) conferred higher risk to hepatic steatosis in chronic hepatitis B patients (odds ratio (OR) = 1.768, 95% confidence interval (CI): 1.027–3.105; P = 0.045) independent of age, gender, and body mass index. In contrast to their role in hepatic steatosis, CC and TC genotypes of PNPLA3 rs1010023 were correlated to significant improvement of homeostasis model assessment index (HOMA-IR) as compared to TT genotype in the CHB+HS group. Downregulated fasting blood glucose also characterized the CHB+HS patients with C-allele at PNPLA3 rs1010023 (CC/TC versus TT: 4.81 ± 0.92 mmol/L versus 5.86 ± 2.11 mmol/L, P = 0.02). These findings suggest that PNPLA3 rs1010023 may predispose chronic hepatitis B patients to hepatic steatosis but protects them from glucose dysregulation by attenuating insulin resistance.

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“…Pituitary adenoma is the third most common primary intracranial tumor of the central nervous system (Nakamura et al, 2011;Ye et al, 2015), as well as the most common saddle area tumor (Qu et al, 2011). Pituitary adenomas are benign tumors, but some have shown the ability to invade areas outside of the central nervous system, such as the intracranial region, which can lead to serious health problems and even death (Trouillas et al, 2003;Norberg et al, 2012;Palumbo et al, 2013).…”

Section: Introductionmentioning

confidence: 99%

miR-133 inhibits pituitary tumor cell migration and invasion via down-regulating FOXC1 expression

Wang¹,

Zhang²,

Zhang³

et al. 2016

Genet. Mol. Res.

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ABSTRACT. Many studies have shown that microRNA (miR)-133 functions as a tumor suppressor in a variety of metastatic cancers, including breast cancer, gastric cancer, and liver fibrosis. However, the influence of miR-133 on pituitary tumor malignancy has not yet been reported. The purpose of this study was to explore the role of miR-133 in pituitary tumor cell migration and invasive ability and the molecular mechanisms involved. Our findings suggest that in pituitary adenoma cell lines, through direct targeting and negative control of forkhead box C1 (FOXC1), miR-133 can inhibit pituitary adenoma cell migration and invasion. In addition, epithelialto-mesenchymal transition can be induced by miR-133. Additionally, a negative correlation was found between FOXC1 and miR-133 expression when comparing their expression levels between cancerous tissue and adjacent normal tissue. This suggests that miR-133 can inhibit cell migration and invasion by directly targeting FOXC1, implying that miR-133 could be a potential therapeutic target for treatment of invasive pituitary adenoma.

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Common variants at 10p12.31, 10q21.1 and 13q12.13 are associated with sporadic pituitary adenoma

Cited by 44 publications

References 44 publications

Polymorphisms in MEN1 and DRD2 genes are associated with the occurrence and characteristics of pituitary adenomas

Polymorphisms in MEN1 and DRD2 genes are associated with the occurrence and characteristics of pituitary adenomas

PNPLA3rs1010023 Predisposes Chronic Hepatitis B to Hepatic Steatosis but Improves Insulin Resistance and Glucose Metabolism

miR-133 inhibits pituitary tumor cell migration and invasion via down-regulating FOXC1 expression

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