Guiyan Han, Ou Wang, Min Nie, Yan Zhu, Xunwu Meng, Yingying Hu, Huaicheng Liu and Xiaoping Xing
The purpose of this study was to investigate the distribution of the A986S and R990G polymorphisms of the calcium-sensing receptor (CASR) gene in the Chinese population and whether there is an association between genetic variants and the risk of developing primary hyperparathyroidism (PHPT) and its associated clinical phenotypes.
A total of 164 Chinese Han PHPT patients (M/F: 51/113) and 230 healthy controls (M/F: 50/180) were enrolled. The common clinical parameters of PHPT patients including biochemical markers, bone mineral density (BMD), kidney stone occurrence, and pathology results were analyzed. Genotyping was conducted for both the patients and controls, and it was carried out using standard procedures.
The R990G variant was more frequently present than the A986S variant in this group of Chinese PHPT patients. The R allele increased the risk of PHPT (odds ratio=1.134, 95% CI: 1.008, 1.277, and P=0.036). Patients with either the RR or RG genotype had lower blood calcium levels and higher alkaline phosphate levels than patients with the GG genotype. The lumbar BMD T-score was −2.20 (−2.63, −0.32) in patients with the GG genotype, and it was significantly lower in patients with the RR+RG genotype (−2.53 (−3.70, −1.72) P=0.036). Patients with the R allele had a significantly higher incidence of hyperplasia (25.0%) and carcinomas (7.1%) than those with the GG genotype (5.3 and 0% respectively; P=0.025). The prevalence of osteoporosis and parathyroid carcinomas was higher in Chinese PHPT patients with the R allele.
The R990G polymorphism is most frequently present in the Chinese population and among patients with PHPT. Additional studies in the Chinese population are needed to elaborate the relationship between genetics and PHPT.
Xiaoyan Guo, Shu Zhang, Qing Zhang, Li Liu, Hongmei Wu, Huanmin Du, Hongbin Shi, Chongjin Wang, Yang Xia, Xing Liu, Chunlei Li, Shaomei Sun, Xing Wang, Ming Zhou, Guowei Huang, Qiyu Jia, Honglin Zhao, Kun Song and Kaijun Niu
It is widely known that inflammation is related to type 2 diabetes (T2D), but few studies have shown a direct relationship between the immune system and T2D using a reliable biomarker. Neutrophil:lymphocyte ratio (NLR) is an easy-to-analyze inflammation biomarker, but few studies have assessed the relationship between NLR and T2D. In order to evaluate how NLR is related to T2D, we designed a large-scale cross-sectional and prospective cohort study in an adult population.
Subjects and methods
Participants were recruited from the Tianjin Medical University General Hospital-Health Management Centre. Both a baseline cross-sectional (n=87 686) and a prospective (n=38 074) assessment were performed. Participants without a history of T2D were followed up for ∼6 years (with a median follow-up of 2.7 years). Adjusted logistic and Cox proportional hazards regression models were used to assess relationships between the quintiles of NLR and T2D (covariates: age, sex, BMI, smoking status, drinking status, hypertension, hyperlipidemia, and family history of cardiovascular disease, hypertension, hyperlipidemia, or diabetes).
The prevalence and incidence of T2D were 4.9% and 6.8/1000 person-years respectively. The adjusted odds ratio and hazard ratio (95% CI) of the highest NLR quintile were 1.34 (1.21, 1.49) and 1.39 (1.09, 1.78) (both P for trend <0.01) respectively as compared to the lowest quintile of NLR. Leukocyte, neutrophil, and lymphocyte counts do not significantly predict the eventual development of T2D.
The present study demonstrates that NLR is related to the prevalence and incidence of T2D, and it suggests that NLR may be an efficient and accurate prognostic biomarker for T2D.
Yong Yao, Yang Liu, Linjie Wang, Kan Deng, Hongbo Yang, Lin Lu, Feng Feng, Bing Xing, Hui You, Zimeng Jin, Renzhi Wang, Hui Pan, Shi Chen and Huijuan Zhu
McCune–Albright syndrome (MAS) is a sporadic, postzygotic disease presenting with fibrous dysplasia, cafe-au-lait spots and multiple endocrinopathies. Growth hormone (GH) excess is an uncommon but potentially severe complication of MAS. This study aims to describe the clinical manifestations of GH excess in the context of MAS and analyze the responses of these patients to treatments.
Retrospective clinical study.
Clinical data from 52 MAS patients were analyzed. Serum GH and IGF1 levels, as well as nadir GH levels after an oral glucose tolerance test and alkaline phosphatase (ALP) levels were determined before and after the treatment.
In total, 13 MAS patients (25%) had the complication of GH excess, including 10 males (76.9%). Among them, all had FD, and 6 patients had sphenoidal bone involvement. Visual deficits were present in 8 patients, and hearing deficits were present in 5. Olfactory dysfunction was observed in 3 patients. Evident pituitary adenomas were confirmed in 9 patients by MRI. These patients underwent surgery with or without pretreatment of long-acting somatostatin analogue octreotide, and 6 achieved complete remission. The serum ALP levels decreased significantly after treatment for GH excess.
MAS with GH excess is more common in male patients. GH excess can lead to more severe skeletal lesions in MAS patients involving more of the craniofacial bones. Complete trans-sphenoidal complete tumor excision with neuronavigational guidance is effective and could lower ALP levels. LAR is recommended as a preoperative treatment and when patients fail to achieve complete remission after surgery.
Shunming Zhang, Yeqing Gu, Liu Wang, Qing Zhang, Li Liu, Min Lu, Ge Meng, Zhanxin Yao, Hongmei Wu, Yang Xia, Xue Bao, Honglei Wang, Hongbin Shi, Shaomei Sun, Xing Wang, Ming Zhou, Qiyu Jia, Kun Song, Huiling Xiang and Kaijun Niu
Background and Aims
The protective effect of garlic against nonalcoholic fatty liver disease (NAFLD) has been reported in animal studies. However, in humans, the association between garlic consumption and NAFLD is unclear. The study sought to explore the association between habitual raw garlic intake and newly diagnosed NAFLD among Chinese adults.
We performed a study of 11,326 men and 12,780 women aged 20–90 years. Habitual food intake was assessed using a validated and standardized 100-item food frequency questionnaire. Diagnosis of NAFLD was based on the liver ultrasonography and self-reported alcohol intake. Multiple logistic regression was used to evaluate the association of raw garlic intake with newly diagnosed NAFLD.
The prevalence of newly diagnosed NAFLD was 28.9% in men and 10.1% in women, respectively. In men, the fully adjusted odds ratios (95% confidence interval) of having NAFLD across increasing frequency of raw garlic intake were 1.00 (reference) for <1 time/week, 0.81 (0.73, 0.90) for 1–3 times/week, 0.66 (0.54, 0.80) for 4–6 times/week, and 0.71 (0.55, 0.90) for ≥7 times/week (P for trend <0.0001). The odds ratio for NAFLD associated with each 1 g of raw garlic/1000 kcal was 0.93 (0.90, 0.97) in men. In women, no significant association between raw garlic intake and NAFLD was identified. These associations between raw garlic intake and NAFLD were consistent in several sensitivity analyses.
Frequent consumption of raw garlic is inversely associated with NAFLD in Chinese men. Further investigations are needed to confirm this finding.
Xiaochun Teng, Zhongyan Shan, Yanyan Chen, Yaxin Lai, Jiashu Yu, Ling Shan, Xue Bai, Yuanbin Li, Ningna Li, Zhidan Li, Sen Wang, Qian Xing, Haibo Xue, Lin Zhu, Xin Hou, Chenling Fan and Weiping Teng
With the introduction of iodized salt worldwide, more and more people are exposed to more than adequate iodine intake levels with median urinary iodine excretion (MUI 200–300 μg/l) or excessive iodine intake levels (MUI >300 μg/l). The objective of this study was to explore the associations between more than adequate iodine intake levels and the development of thyroid diseases (e.g. thyroid dysfunction, thyroid autoimmunity, and thyroid structure) in two Chinese populations.
A population-based cross-sectional study was conducted in two areas in which people are exposed to different levels of iodine intake (Rongxing, MUI 261 μg/l; Chengshan, MUI 145 μg/l). A total of 3813 individuals were recruited by random sampling. Thyroid hormones, thyroid autoantibodies in serum, and iodine levels in urine were measured. B-mode ultrasonography of the thyroid was also performed for each participant.
The prevalence of subclinical hypothyroidism was significantly higher for subjects who live in Rongxing than those who live in Chengshan (5.03 vs 1.99%, P<0.001). The prevalence of positive anti-thyroid peroxidase antibody (TPOAb) and positive anti-thyroglobulin antibody (TgAb) was significantly higher for subjects in Rongxing than those in Chengshan (TPOAb: 10.64 vs 8.4%, P=0.02; TgAb: 10.27 vs 7.93%, P=0.01). The increase in thyroid antibodies was most pronounced in the high concentrations of TPOAb (TPOAb: ≥500 IU/ml) and low concentrations of TgAb (TgAb: 40–99 IU/ml) in Rongxing.
More than adequate iodine intake could be a public health concern in terms of thyroid function and thyroid autoimmunity in the Chinese populations.
Feng Cai, Yi-Dan Zhang, Xiuli Zhao, Ya-Kun Yang, Si-Hai Ma, Cong-Xin Dai, Xiao-Hai Liu, Yong Yao, Ming Feng, Jun-Ji Wei, Bing Xing, Yong-Hui Jiao, Zhen-Qing Wei, Zhen-Ming Yin, Bo Zhang, Feng Gu and Ren-Zhi Wang
The aryl hydrocarbon receptor interacting protein gene (AIP) is associated with pituitary adenoma (PA). AIP has not been sequenced in East Asian PA populations, so we performed this study in a Han Chinese cohort.
Our study included six familial PA pedigrees comprising 16 patients and 27 unaffected relatives, as well as 216 sporadic PA (SPA) patients and 100 unrelated healthy controls.
AIP sequencing was carried out on genomic DNA isolated from blood samples. Multiplex ligation-dependent probe amplification and microsatellite marker analyses on DNA from the paired tumor tissues were performed for loss of heterozygosity analysis.
We identified three common and four rare single nucleotide polymorphisms (SNPs), one intron insertion, one novel synonymous variant, four novel missense variants, and a reported nonsense mutation in three familial isolated PA (FIPA) cases from the same family. Large genetic deletions were not observed in the germline but were seen in the sporadic tumor DNA from three missense variant carriers. The prevalence of AIP pathogenic variants in PA patients here was low (3.88%), but was higher in somatotropinoma patients (9.30%), especially in young adults (≤30 years) and pediatric (≥18 years) paients (17.24% and 25.00% respectively). All AIP variant patients suffered from macroadenomas. However, the AIP mutation rate in FIPA families was low in this cohort (16.67%, 1/6 families).
AIP gene mutation may not be frequent in FIPA or SPA from the Han Chinese population. AIP sequencing and long-term follow-up investigations should be performed for young patients with large PAs and their families with PA predisposition.