-
1.
Lifestyles, genetics, and future perspectives on gastric cancer in east Asian populations.
Katoh, H, Ishikawa, S
Journal of human genetics. 2021;(9):887-899
Abstract
The prevalence of gastric cancer (GC) differs among regions worldwide, with the highest occurrence in east Asia. Thus, its etiology, with respect to ethnic background, environmental factors, and lifestyles, is also thought to differ essentially. In addition, etiology of GC is speculated to be changing due to the recent decrease in the Helicobacter pylori (H. pylori) infection in Japan. State-of-the-art somatic/germline cancer genomics has clarified the etiologies of gastric carcinogenesis. In this review article, we summarize past and present milestones in our understanding of GC achieved through genomic approaches, including a recent report that revealed higher-than-expected frequencies of GCs attributed to east Asian-specific germline variants in ALDH2 or CDH1 in combination with lifestyles. Based on this updated knowledge, we also discuss the possible impact of and high-risk approaches for GCs in the upcoming "H. pylori-negative era."
-
2.
A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review.
Fu, J, Wang, T, Xiao, X
BMC medical genetics. 2019;(1):56
Abstract
BACKGROUND PHKA2 gene mutations can cause liver phosphorylase kinase (PhK) deficiency, resulting in glycogen storage disease type IXa (GSD IXa). Elevated liver transaminase levels and liver enlargement are the most frequent phenotypes of GSD IXa. However, whether the phenotypes are applicable to Chinese patients remains unclear. CASE REPORT A boy aged 2 years and 8 months with a history of episodic fatigue and weakness since he was 2 years old was referred to our endocrinology clinic. Apart from symptomatic ketotic hypoglycemic episodes (palpitation, hand shaking, sweating, etc.), no abnormalities of liver transaminase levels or liver size were found. To identify the aetiology of his clinically diagnosed hypoglycaemia, the proband and his parents were screened for PHKA2 gene mutations by next-generation sequencing. A heterozygous mutation (c.2972C > G, p.G991A) in PHKA2 was found in the proband and his mother. Twenty-one Chinese cases with GSD IXa have been reported in the literature to date, and elevated liver transaminase levels (95%) and liver enlargement (91%) are the most frequent phenotypes of GSD IXa in Chinese patients. Hypoglycaemia may be one of the early onset symptoms in infants with GSD IXa. CONCLUSIONS This study enriches our knowledge of the PHKA2 gene mutation spectrum and provides further information about the phenotypic characteristics of Chinese GSD IXa patients.
-
3.
A novel compound heterozygous mutation in SLC5A2 contributes to familial renal glucosuria in a Chinese family, and a review of the relevant literature.
Li, S, Yang, Y, Huang, L, Kong, M, Yang, Z
Molecular medicine reports. 2019;(5):4364-4376
-
-
Free full text
-
Abstract
Familial renal glucosuria (FRG) is a rare condition that involves isolated glucosuria despite normal blood glucose levels. Mutations in the solute carrier family 5 member 2 (SLC5A2) gene, which encodes sodium‑glucose cotransporter 2 (SGLT2), have been reported to be responsible for the disease. Genetic testing of the SLC5A2 gene was conducted in a Chinese family with FRG. A number of online tools were used to predict the potential effect of the identified mutations on SGLT2 function. Additionally, the SLC5A2 mutations previously reported in PubMed were summarized. A novel compound heterozygous mutation (c.514T>C, p.W172R; c.1540C>T, p.P514S) of the SLC5A2 gene in a Chinese child with FRG was identified. In total, 86 mutations of the SLC5A2 gene have been reported to be associated with FRG. The novel compound heterozygous mutation (c.514T>C, p.W172R; c.1540C>T, p.P514S) of the SLC5A2 gene may be responsible for the onset of FRG. The present study provides a starting point for further investigation of the molecular pathogenesis of the SLC5A2 gene mutation in patients with FRG.
-
4.
Long-term follow-up in a Chinese child with congenital lipoid adrenal hyperplasia due to a StAR gene mutation.
Zhao, X, Su, Z, Liu, X, Song, J, Gan, Y, Wen, P, Li, S, Wang, L, Pan, L
BMC endocrine disorders. 2018;(1):78
Abstract
BACKGROUND Congenital lipoid adrenal hyperplasia (CLAH) is an extremely rare and the most severe form of congenital adrenal hyperplasia. Typical features include disorder of sex development, early-onset adrenal crisis and enlarged adrenal glands with fatty accumulation. CASE PRESENTATION We report a case of CLAH caused by mutations in the steroidogenic acute regulatory protein (StAR) gene. The patient had typical early-onset adrenal crisis at 2 months of age. She had normal-appearing female genitalia and a karyotype of 46, XY. The serum cortisol and adrenal steroids levels were always nearly undetectable, but the adrenocorticotropic hormone levels were extremely high. Genetic analysis revealed compound heterozygous mutations at c. 229C > T (p.Q77X) in exon 3 and c. 722C > T (p.Q258X) in exon 7 of the StAR gene. The former mutation was previously detected in only two other Chinese CLAH patients. Both mutations cause truncation of the StAR protein. The case reported here appears to be a classic example of CLAH with very small adrenal glands and is the second reported CLAH case with small adrenal glands thus far. In a 15-year follow-up, the patient's height was approximately average for females before age 4 and fell to - 1 SDS at 10 years of age. Her bone age was similar to her chronological age from age 4 to age 15 years. CONCLUSIONS In conclusion, this is a classic case of CLAH with exceptionally small adrenal glands. Q77X mutation seems to be more common in Chinese CLAH patients. Additionally, this is the first report of the growth pattern associated with CLAH after a 15-year follow-up.
-
5.
Infant Feeding Beliefs, Attitudes, Knowledge and Practices of Chinese Immigrant Mothers: An Integrative Review of the Literature.
Lindsay, AC, Le, Q, Greaney, ML
International journal of environmental research and public health. 2017;(1)
Abstract
Chinese are a fast-growing immigrant population group in several parts of the world (e.g., Australia, Canada, Europe, Southeast Asia, United States). Research evidence suggests that compared to non-Hispanic whites, individuals of Asian-origin including Chinese are at higher risk of developing cardiovascular disease and type 2 diabetes at a lower body mass index (BMI). These risks may be possibly due to genetic differences in body composition and metabolic responses. Despite the increasing numbers of Chinese children growing up in immigrant families and the increasing prevalence of obesity among Chinese, little research has been focused on children of Chinese immigrant families. This integrative review synthesizes the evidence on infant feeding beliefs, attitudes, knowledge and practices of Chinese immigrant mothers; highlights limitations of available research; and offers suggestions for future research. Using the Preferred Reporting Items for Systematic Review and Meta-Analyses (PRISMA) guidelines, we searched four electronic academic/research databases (CINAHL, Medline, PsycINFO, and PubMed) to identify peer-reviewed, full-text papers published in English between January 2000 and September 2017. Only studies with mothers 18+ years old of normally developing infants were included. Of the 797 citations identified, 15 full-text papers were retrieved and 11 studies (8 cross-sectional studies, 3 qualitative studies) met the inclusion criteria and were included in this review. Reviewed studies revealed high initiation rates of breastfeeding, but sharp declines in breastfeeding rates by six months of age. In addition, reviewed studies revealed that the concomitantly use of breast milk and formula, and the early introduction of solid foods were common. Finally, reviewed studies identified several familial and socio-cultural influences on infant feeding beliefs and practices that may increase risk of overweight and obesity during infancy and early childhood among Chinese children of immigrant families. Nonetheless, as only 11 studies were identified and because the majority of studies (n = 8) were conducted in Australia, additional research including longitudinal studies, and studies conducted in countries with large Chinese immigrant population are needed to further identify and understand influences on Chinese immigrant mothers' beliefs, attitudes, and practices related to infant feeding that may increase risk of child overweight and obesity. This information is needed to develop interventions tailored to the beliefs and needs of this fast-growing immigrant group and aimed at promoting healthy infant feeding practices to prevent childhood overweight and obesity.
-
6.
Single nucleotide polymorphisms in ZNRD1-AS1 increase cancer risk in an Asian population.
Wang, PY, Li, JH, Liu, YM, Lv, Q, Xie, N, Zhang, HH, Xie, SY
Oncotarget. 2017;(6):10064-10070
Abstract
Single nucleotide polymorphisms (SNPs) in human zinc ribbon domain containing 1 antisense RNA 1 (ZNRD1-AS1) have been associated with cancer development. In this meta-analysis, we more precisely estimated the associations between three expression quantitative trait loci SNPs in ZNRD1-AS1 (rs3757328, rs6940552, and rs9261204) and cancer susceptibility. The data for three SNPs were extracted from eligible studies, which included 5,293 patients and 5,440 controls. Overall, no significant associations between SNPs in ZNRD1-AS1 (rs3757328, rs6940552, and rs9261204) and cancer risk were observed. However, in further subgroup analyses based on cancer type, we found that the A allele of rs3757328 increased the risk of some cancer in both allele contrast (OR = 1.15, 95% CI = 1.05 - 1.25) and recessive models (OR = 1.79; 95% CI = 1.33 - 2.41). The A allele of rs6940552 and the G allele of rs9261204 also increased the risk of some cancer in an Asian population in allele contrast (OR = 1.17, 95% CI = 1.08 - 1.26, and OR = 1.25, 95% CI = 1.16 - 1.34, respectively) and recessive models (OR = 1.44, 95% CI = 1.18 - 1.77, and OR = 1.49; 95% CI = 1.23 - 1.80, respectively). Thus, rs3757328, rs6940552, and rs9261204 in ZNRD1-AS1 are all associated with increased some cancer risk in an Asian population.
-
7.
Type 4B hereditary hemochromatosis associated with a novel mutation in the SLC40A1 gene: A case report and a review of the literature.
Zhang, W, Lv, T, Huang, J, Ou, X
Medicine. 2017;(38):e8064
-
-
Free full text
-
Abstract
RATIONALE Hereditary hemochromatosis can be divided into HFE- and non-HFE-related based on genetic mutations in different genes. HFE-related hemochromatosis is the most common inherited genetic disease in European populations but rare in Asia-pacific region. Recently, non-HFE-related hemochromatosis has been reported in patients from the Asian countries. PATIENT CONCERNS We report the case of a 48-year-old Chinese Han woman who presented with abnormal liver function, diabetes mellitus, hyperferritinemia, and high transferrin saturation, with severe iron overload in parenchymal cells, Kupffer cells, and periportal fibrosis on liver biopsy. No secondary factor for iron overload was identified. DIAGNOSES Sanger sequencing was conducted for the screening of mutation in the hereditary hemochromatosis related genes. The functional effect of a splicing mutation, SLC40A1 IVS 3+10 del gtt, was assessed by reverse-polymerase chain reaction analysis for SLC40A1 mRNA level, and by immunohistochemistry analysis of liver biopsy for ferroportin expression and cellular localization. OUTCOMES A novel splicing mutation IVS 3+10 del gtt was identified in the SLC40A1 gene. Functional analysis showed that IVS 3+10 del gtt in the SLC40A1 gene lead to a substantial reduction in the basal levels of SLC40A1 mRNA and increased membrane localization of ferroportin. Finally, the patient was diagnosed as ferroportin disease (type 4B hemochromatosis). LESSONS The present study is the first report to identify a classical splicing mutation in the SLC40A1 gene in type 4B hemochromatosis, and provide further evidence of the prevalence of type 4 hereditary hemochromatosis in Asian countries.
-
8.
Characterization of the Asian Phenotype - An Emerging Paradigm with Clinicopathological and Human Research Implications.
Leow, MK
International journal of medical sciences. 2017;(7):639-647
Abstract
Background: Modern medicine recognizes that salient, inherent variations between Caucasians and Asians exist. Radical changes are occurring in the health scene with increasing emphasis centered on the recognition of inter-individual variations unique to Asians that impact on medical management and outcomes. Aim: This review analyzes distinct features or outcomes in terms of epidemiology, disease thresholds, diagnostic cutoffs and treatment responses of Asian people compared with non-Asians. Methods: This review is based on a literature search via PubMed and MEDLINE for relevant articles related to the Asian phenotype and its impact on health and disease. Results: An 'Asian phenotype' could be characterized across the spectrum of biomedical disciplines and underscores the major challenges clinicians must face in their daily management of a cosmopolitan population and their extrapolation of research outcomes. Conclusion: Interventions for various ailments that have traditionally ignored population differences have now entered the age of personalized, stratified or precision medicine requiring an individualized approach being adopted as a new standard of care. Factoring in Asian phenotypes is essential for the medical research community and the development of improved clinical practice guidelines across a continuum of disciplines that will ultimately translate to better human health round the world.
-
9.
Associations of Cholesteryl Ester Transfer Protein TaqIB Polymorphism with the Composite Ischemic Cardiovascular Disease Risk and HDL-C Concentrations: A Meta-Analysis.
Guo, SX, Yao, MH, Ding, YS, Zhang, JY, Yan, YZ, Liu, JM, Zhang, M, Rui, DS, Niu, Q, He, J, et al
International journal of environmental research and public health. 2016;(9)
Abstract
BACKGROUND Previous studies have evaluated the associations between the cholesteryl ester transfer protein (CETP) TaqIB polymorphism (rs708272), the risk of developing composite ischemic cardiovascular disease (CVD) and the concentration of high-density lipoprotein cholesterol (HDL-C), but results remain controversial. The objective of this study was to investigate whether a relationship exists between these factors. METHODS We conducted a meta-analysis of available studies to clarify the associations of the CETP TaqIB polymorphism with HDL-C concentration and the composite ischemic CVD risk in both Asians and Caucasians. All statistical analyses were done with Stata 12.0. RESULTS Through utilization of the Cochrane Library, Embase, PubMed, Web of Science, Springer, China Science and Technology Journal Database, China National Knowledge Infrastructure, Google Scholar, and Baidu Library, a total of 45 studies from 44 papers with 20,866 cases and 21,298 controls were combined showing a significant association between the CETP TaqIB variant and composite ischemic CVD risk. Carriers of allele TaqIB-B1 were found to have a higher risk of composite ischemic CVD than non-carriers: OR = 1.15, 95% CI = 1.09-1.21, p < 0.001. Meanwhile, 28 studies with 23,959 subjects were included in the association between the CETP TaqIB polymorphism and the concentration of HDL-C. RESULTS suggested that carriers of the B1B1 genotype had lower concentrations of HDL-C than those of the B2B2 genotype: SMD = 0.50, 95% CI = 0.36-0.65, p < 0.001. CONCLUSIONS The synthesis of available evidence demonstrates that the CETP TaqIB polymorphism protects against composite ischemic CVD risk and is associated with a higher HDL-C concentration in both Asians and Caucasians.
-
10.
Vitamin D status and bone mineral density in the Chinese population: a review.
Man, PW, van der Meer, IM, Lips, P, Middelkoop, BJ
Archives of osteoporosis. 2016;(1):14
-
-
Free full text
-
Abstract
UNLABELLED Low vitamin D status is associated with low bone mass which, in turn, is an important predictor of fracture. However, data on this relationship in non-Caucasian populations are scarce. This review shows such an association in the Chinese population in five of the 11 included studies. INTRODUCTION In the elderly population, the serum 25-hydroxyvitamin D [25(OH)D] concentration is often inadequate. This may cause a lower bone mineral density (BMD), which is an important predictor of fracture. It is estimated that by 2050 more than half of all hip fractures worldwide will occur in Asia. However, data on the relationship between vitamin D status and BMD in a non-Caucasian population are scarce. Therefore, this study reviews the literature on the relationship between serum 25(OH)D and BMD in the Chinese population. METHODS A search was made in PubMed, EMBASE, Web of Science and Cochrane Library (up to December 2014) to identify relevant studies using the terms vitamin D status, bone mineral density, and Chinese. RESULTS Of the 293 studies identified, 11 fulfilled the inclusion and exclusion criteria and were analyzed. Mean serum 25(OH)D concentrations ranged from 29-82 nmol/L. In 5 of the 11 studies, an association was found between vitamin D status and BMD in the Chinese population. CONCLUSION The evidence for a relationship between the serum 25(OH)D concentration and BMD in the middle-aged and elderly Chinese population living in Asia appears to be limited and inconsistent.