Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.

BACKGROUND: Lowe syndrome is characterized by the presence of congenital cataracts, psychomotor retardation, and dysfunctional proximal renal tubules. This study presents a case of an atypical phenotype, investigates the genetic characteristics of eight children diagnosed with Lowe syndrome in southern China, and performs functional analysis of the novel variants. METHODS: Whole-exome sequencing was conducted on eight individuals diagnosed with Lowe syndrome from three medical institutions in southern China. Retrospective collection and analysis of clinical and genetic data were performed, and functional analysis was conducted on the five novel variants. RESULTS: In our cohort, the clinical symptoms of the eight Lowe syndrome individuals varied. One patient was diagnosed with Lowe syndrome but did not present with congenital cataracts. Common features among all patients included cognitive impairment, short stature, and low molecular weight proteinuria. Eight variations in the OCRL gene were identified, encompassing three previously reported and five novel variations. Among the novel variations, three nonsense mutations were determined to be pathogenic, and two patients harboring novel missense variations of uncertain significance exhibited severe typical phenotypes. Furthermore, all novel variants were associated with altered protein expression levels and impacted primary cilia formation. CONCLUSION: This study describes the first case of an atypical Lowe syndrome patient without congenital cataracts in China and performs a functional analysis of novel variants in the OCRL gene, thereby expanding the understanding of the clinical manifestations and genetic diversity associated with Lowe syndrome.

Evolving indications and surgical techniques for corneal transplantation at a tertiary eye care center in southern China.

BACKGROUND: This retrospective study aimed to analyze the evolution of primary indications and surgical techniques for corneal transplantation in Southern China from 2012 to 2021. METHODS: The medical charts of all patients who underwent keratoplasty between January 2012 and December 2021 at Zhongshan Ophthalmic Centre, Sun Yat-Sen University, Guangzhou, Southern China were reviewed. We collected and analyzed the primary indications for corneal transplantation and the surgical methods used in each keratoplasty. RESULTS: The total number of corneal transplantations was 7,286 during this decade, increasing from 210 cases in 2012 to 1054 cases in 2021. The primary indications for keratoplasty included acquired nontraumatic corneal diseases (56.2%), congenital corneal abnormalities (16.4%), acquired traumatic corneal diseases (14.0%), and regraft (13.4%). Infectious keratitis was the leading indication among all keratoplasties (18.5%), followed by regraft (13.4%). Over the decade, the proportion of infectious keratitis gradually decreased (P = 0.013), while the proportion of regraft increased (P = 0.019). The predominant surgical technique was penetrating keratoplasty (PKP), accounting for 56.7%. However, the number of deep anterior lamellar keratoplasty (DALK) and endothelial keratoplasty (EK) significantly increased from 2012 to 2021 (P = 0.007 and P = 0.002). CONCLUSIONS: The annual number of corneal transplants significantly increased from 2012 to 2021. In the past decade, infectious keratitis and regraft have become the leading primary indications for corneal transplantation. Although the use of customized lamellar techniques has dramatically increased, PKP remains the predominant surgical technique for keratoplasty.

Biotic resistance to fish invasions in southern China: Evidence from biomass, habitat, and fertility limitation.

Understanding the mechanisms underlying the invasion success or failure of alien species can help to predict future invasions and cope with the invaders. The biotic resistance hypothesis posits that diverse communities are more resistant to invasion. While many studies have examined this hypothesis, the majority of them have focused on the relationship between alien and native species richness in plant communities, and results have often been inconsistent. In southern China, many rivers have been invaded by alien fish species, providing an opportunity to test the resistance of native fish communities to alien fish invasions. Using survey data for 60,155 freshwater fish collected from five main rivers of southern China for 3 years, we assessed the relationships between native fish richness and the richness and biomass of alien fishes at river and reach spatial scales, respectively. Based on two manipulative experiments, we further examined the impact of native fish richness on habitat selection and the reproductive ability of an exotic model species Coptodon zillii. We found no apparent relationship between alien and native fish richness, whereas the biomass of alien fish significantly decreased with increasing native fish richness. In experiments, C. zillii preferred to invade those habitats that had low native fish richness, given evenly distributed food resources; reproduction of C. zillii was strongly depressed by a native carnivorous fish Channa maculata. Together, our results indicate that native fish diversity can continue to provide biotic resistance to alien fish species in terms of limiting their growth, habitat selection, and reproduction when these aliens have successfully invaded southern China. We thus advocate for fish biodiversity conservation, especially for key species, to mitigate against the population development and ecological impact of alien fish species.

Prevalence of hepatitis B virus infection among pregnant women in the mountainous regions of southern China: A retrospective single-center study.

BACKGROUND: Hepatitis B virus (HBV) infection remains a major public health issue worldwide. Moreover, its prevalence varies significantly in different geographic areas of China. The current study aimed to assess the prevalence of HBV infection among Hakka pregnant women in Meizhou, a remote mountainous region in southern China. METHODS: This research was performed between January 2015 and December 2020. In total, 16,727 pregnant women receiving antenatal care at Meizhou People's Hospital were included in the analysis. All pregnant women were screened for serum HBV markers. RESULTS: The prevalence rates of hepatitis B surface antigen (HBsAg) and hepatitis B surface antibody positivity among the participants were 11.74% (n = 1964) and 48.00% (n = 8029), respectively. The overall prevalence rates of susceptibility to infection, HBV immunity, previous/occult infection, inactive HBsAg carrier, and active infection were 36.16%, 33.61%, 16.94%, 8.11%, and 2.30%, respectively. According to age distribution, the prevalence rate of HBsAg positivity elevated concomitantly with increasing age (p < 0.001). From 2015 to 2020, the prevalence rate of HBsAg positivity decreased from 14.50% to 8.19% and that of hepatitis B pre-core antigen positivity from 4.42% to 2.31%. In addition, pregnant women with HBsAg-positive status were more likely to present with gestational diabetes, thrombocytopenia, and anemia than those with HBsAg-negative status. CONCLUSION: The HBV infection rate remains high among pregnant women in the indigenous Hakka population in southern China. To prevent vertical transmission, cautious surveillance of maternal HBV infection status should be considered in Hakka pregnant women in Meizhou.

Identification of the ß thalassemia allele ß-50 and analysis of the hematology data of carriers in a southern Chinese population.

During a routine test, we identified a 38-year-old man who had a positive hematology screening result but was negative for hot spot variants of his thalassemia gene. Further analysis identified ß-50 (HBB: c.-100G>A). It was first suggested that ß-50 was a ß+ -thal allele, and some research groups suggested this allele was a silent ß-thal allele. To fully understand the hematological phenotype of the ß-50 allele, we screened for individuals carrying ß-50 in the general population and performed hematology analysis on these carriers. A real-time PCR detection system was designed to verify samples carrying ß-50 . Twenty-one thousand samples and 43 pedigree samples were screened, and 86 ß-50 carriers were detected. We performed hematological analysis on 65 individuals older than 3 years who had normal serum ferritin and analyzed the data. A total of 34.62% of the ß-50 /ßN individuals had mean cellular volume (MCV) or mean cellular hemoglobin (MCH) values slightly lower than the positive cutoff value of screening; the ß-50 carriers' Hb A2 value was slightly elevated. According to the test results, ß-50 carriers have slight changes in hematology parameters, including slight decreases in MCV and MCH and slight increases in Hb A2 ; however, these effects do not reach the degree of traditional ß+ alleles. Females with genotype ß-50 /ß0 show a degree of decline in hematological indicators during pregnancy. Therefore, we should describe ß-50 as a ß++ thalassemia allele, and identification of ß-50 can explain slight changes in hematological indicators in some carriers.

The infection and molecular characterization of Cryptosporidium spp. in diarrheic pigs in southern China.

Cryptosporidium spp. is recognized as an opportunistic zoonotic parasite that infects humans, wild and domestic animals, and is also a major cause of diarrhea-related disease in immunocompromised individuals, considered a global public health concern. Pig is considered as one of the reservoir hosts of Cryptosporidium spp. can transmit cryptosporidiosis to humans and other animals. However, limited studies on the distribution of Cryptosporidium spp. in diarrheic pigs have been published. Objective of the current study was to investigate the infection and species/genotypes of Cryptosporidium spp. from feces of diarrheic pigs in southern China. A total of 1254 fresh fecal samples were collected from 37 intensive pig farms in Jiangxi, Hunan and Fujian provinces, and were screened for Cryptosporidium spp. infection using a nested PCR assay targeted the small subunit rRNA (SSU rRNA) genes. The overall infection rate of Cryptosporidium spp. was 4.5% (57/1254), including 5.5% (17/307) in suckling piglets, 2.7% (8/299) in weaned piglets, 7.4% (7/95) in fattening pigs and 4.5% (25/553) in sows, respectively. In addition, two human-pathogenic species Cryptosporidium scrofarum (80.7%, 46/57) and Cryptosporidium suis (19.3%, 11/57) were identified. C. scrofarum and C. suis were observed in pigs tested in all age groups. Interestingly, a high colonization incidence of C. scrofarum (16/57) was observed in suckling piglets. This study revealed the prevalence and species of Cryptosporidium spp. in diarrheic pigs in three provinces of southern China, which suggested that diarrhea maybe not a direct factor affecting the prevalence of Cryptosporidium spp. in pigs. More prevention and control of this parasite in pigs should receive greater attention from farmers in investigated provinces.

Comparison of the effects of different doses of Glucocorticoids on distinct subtypes of Guillain-Barré syndrome in Southern China.

BACKGROUND: The effect of Glucocorticoids (GCs) on the treatment of Guillain-Barré syndrome (GBS) has been controversial. There is no information on whether specific subtypes of GBS respond differently to GCs. In this setting, we aimed to discuss whether GCs treating yield different effects in the distinct subtypes (acute inflammatory demyelinating polyneuropathy, AIDP; acute motor axonal neuropathy, AMAN). And further, we analyzed the impact of different doses on the outcome. METHODS: Medical records of 448 patients with a diagnosis of classic GBS admitted to 31 tertiary hospitals, located in 14 provinces of Southern China, from 1 January 2013 to 30 September 2016, were retrospectively collected. And 251 patients treated with GCs alone (AIDP=189, AMAN=62) were reviewed and analyzed. RESULTS: After GCs treatment, the Hughes score of AIDP patients was significantly lower than that of AMAN patients at discharge (P=0.005) and 3 months after onset (P<0.001). Further analysis revealed that among AIDP patients, the high-dose group had significantly shorter hospital stay (P=0.023), lower Hughes score at nadir (P<0.001), at discharge (P=0.005), and 3 months after onset (P<0.001), compared with the low-dose group. However, for AMAN patients, the outcome difference between groups was nonsignificant. CONCLUSION: Our data suggest that the high doses of GCs may result, at least in part, from the side of the duration of hospital stay and short-term outcome, favorable outcomes in AIDP patients. Therefore, we cannot completely deny the priority of GCs in the treatment of GBS, because the effect of different doses of GCs varies in treating different subtypes. More studies are needed in the future to further validate this issue. TRIAL REGISTRATION: ChiCTR-RRC-17014152 . Registered 26 December 2017- Retrospectively registered.

Relationship between body dissatisfaction, insufficient physical activity, and disordered eating behaviors among university students in southern China.

BACKGROUND: With an increasing incidence of obesity, the relationship between obesity and body image has become a hot research topic worldwide. From high school to university, young people experience changes in their social environment. University students have a high incidence of eating disorders and insufficient physical activity. The purpose of this study was to explore the relationship between body dissatisfaction, insufficient physical activity, and disordered eating behaviors among university students in southern China. METHODS: In total, 1296 university students aged 18-23 years were recruited for this study. The participants completed anthropometric measurements, the Physical Activity Rating scale-3 (PARS-3), and the Chinese-Dutch Eating Behavior Questionnaire (C-DEBQ). The ideal weight and silhouette were reported by university students using a questionnaire. RESULTS: Compared with men, young women had a higher level of body dissatisfaction. For men, body mass index (BMI; ß = 0.76, P <  0.01), physical activity score (ß = - 0.11, P <  0.01), and restrained eating score (ß = 0.10, P <  0.01) were the significant factors predictive of body dissatisfaction. For women, BMI (ß = 0.57, P <  0.01), muscle mass (ß = 0.12, P <  0.01), physical activity score (ß = - 0.11, P <  0.01), and restrained eating score (ß = 0.09, P <  0.01) were the significant factors predictive of body dissatisfaction. CONCLUSIONS: University students with high body dissatisfaction had lower physical activity scores and higher restrained eating scores. The data presented here highlight the impact of university students' body dissatisfaction on physical activity deficiency and disordered eating behaviors in China.

Effects of APOE gene ε4 allele on serum lipid profiles and risk of cardiovascular disease and tumorigenesis in southern Chinese population.

BACKGROUND: Human apolipoprotein E (APOE) polymorphisms are attributable to the presence of three common alleles, namely, ε2, ε3, and ε4, which generate six genotypes, viz, E2/E2, E2/E3, E3/E3, E3/E4, E4/E4, and E2/E4. APOE polymorphisms are associated with all types of tumors and cardiovascular diseases (CVD). However, the relationship between the type of APOE polymorphisms and tumorigenesis remains debatable. Therefore, we aimed to investigate the role of APOE polymorphisms on the tumor with or without CVD in southern China. METHODS: A total of 1438 participants were categorized into 4 groups: 409 patients with tumor, 369 patients with CVD, 338 patients with both tumor and CVD, and 322 controls. APOE polymorphisms were determined by genotyping assay. The factors influencing tumor patients with or without CVD were also analyzed by logistic regression analysis. RESULTS: The present study involved different types of solid tumors. Lung cancer was the most common cancer (20.2%, 151/747), followed by colorectal (17%, 127/747), esophageal (9.8%, 73/747), and liver (8.7%, 65/747) cancers. E3/E3 was the most frequent genotype, and ɛ3 was the greatest allele frequency in our study population. The frequencies of the E3/E3, E3/E4, E2/E3, E2/E4, E4/E4, and E2/E2 genotypes in tumor patients were 76.97% (575/747), 14.19% (106/747), 6.83% (51/747), 1.2% (9/747), 0.4% (3/747), and 0.4% (3/747), respectively. Tumor patients carrying ε3 with or without CVD showed higher levels of TG, TC, and LDL-C and lower levels of HDL-C compared to the controls carrying ε3. On the other hand, the tumor patients carrying ε4 with or without CVD showed higher levels of TG and LDL-C and lower levels of HDL-C (all P < 0.05). The frequency of APOE ε4 allele and the E3/E4 genotype was relatively greater in tumor or CVD patients (P < 0.001). In addition, ε4 allele acted as an independent risk factor for tumor patients group (P = 0.037, adjusted OR = 1.92, 95% CI 1.04-3.55) and tumor + CVD patients group (P = 0.012, adjusted OR = 2.53, 95% CI 1.22-5.23). CONCLUSIONS: Individuals carrying ε4 are at a higher risk of tumor with or without CVD, and APOE polymorphisms affect the serum lipid profiles.

Genome-wide association mapping reveals potential novel loci controlling stripe rust resistance in a Chinese wheat landrace diversity panel from the southern autumn-sown spring wheat zone.

BACKGROUND: Stripe rust, caused by the fungal pathogen Puccinia striiformis f. sp. tritici (Pst), is a serious foliar disease of wheat. Identification of novel stripe rust resistance genes and cultivation of resistant cultivars are considered to be the most effective approaches to control this disease. In this study, we evaluated the infection type (IT), disease severity (DS) and area under the disease progress curve (AUDPC) of 143 Chinese wheat landrace accessions for stripe rust resistance. Assessments were undertaken in five environments at the adult-plant stage with Pst mixture races under field conditions. In addition, IT was assessed at the seedling stage with two prevalent Pst races (CYR32 and CYR34) under a controlled greenhouse environment. RESULTS: Seventeen accessions showed stable high-level resistance to stripe rust across all environments in the field tests. Four accessions showed resistance to the Pst races CYR32 and CYR34 at the seedling stage. Combining phenotypic data from the field and greenhouse trials with 6404 markers that covered the entire genome, we detected 17 quantitative trait loci (QTL) on 11 chromosomes for IT associated with seedling resistance and 15 QTL on seven chromosomes for IT, final disease severity (FDS) or AUDPC associated with adult-plant resistance. Four stable QTL detected on four chromosomes, which explained 9.99-23.30% of the phenotypic variation, were simultaneously associated with seedling and adult-plant resistance. Integrating a linkage map of stripe rust resistance in wheat, 27 QTL overlapped with previously reported genes or QTL, whereas four and one QTL conferring seedling and adult-plant resistance, respectively, were mapped distantly from previously reported stripe rust resistance genes or QTL and thus may be novel resistance loci. CONCLUSIONS: Our results provided an integrated overview of stripe rust resistance resources in a wheat landrace diversity panel from the southern autumn-sown spring wheat zone of China. The identified resistant accessions and resistance loci will be useful in the ongoing effort to develop new wheat cultivars with strong resistance to stripe rust.

Molecular detection and subtype distribution of Blastocystis in farmed pigs in southern China.

Blastocystis is one of the most common causative agents of intestinal diseases, which can cause enteric diseases in animals and humans. However, limited data is available on the prevalence or subtypes of Blastocystis infections in farmed pigs in southern China. In this study, a total of 396 fecal samples were collected from farmed pigs in three provinces in southern China in 2016, and screened for Blastocystis by PCR amplification of the small subunit rRNA (SSU rRNA) gene fragment. One hundred and seventy (42.93%) of the examined fecal samples were detected Blastocystis-positive, and two known zoonotic subtypes ST1 and ST5 were identified, with ST5 being the predominate subtype. Moreover, gender, age and region were considered as risk factors that associated with Blastocystis infection in farmed pigs. The present study revealed the prevalence and subtypes of Blastocystis infections in farmed pigs in southern China, which provided essential data for the control of Blastocystis infections in pigs, other animals and humans in China.

Comparison of several blood lipid-related indexes in the screening of non-alcoholic fatty liver disease in women: a cross-sectional study in the Pearl River Delta region of southern China.

BACKGROUND: Lipid metabolism disorders play a critical role in the progression of non-alcoholic fatty liver disease (NAFLD). However, the number of studies on the relationships among blood lipid-related indexes and NAFLD is limited, and few studies have emphasized the comparison of blood lipid-related indexes in the same population to identify the optimal index for NAFLD screening. This study aimed to investigate the relationships among several blood lipid-related indexes and NAFLD, and to find the index with the best screening value for NAFLD. METHODS: Based on a general health examination at community health service agencies in the Pearl River Delta region of China in 2015, 3239 women were recruited in this cross-sectional study. The relationships among blood lipid-related indexes and NAFLD were assessed separately by constructing multivariate logistic regression models. Receiver operating characteristic analysis was used to evaluate and compare the screening abilities of the indexes for NAFLD. All data analyses were conducted in SPSS and MedCalc software. RESULTS: Whether in the crude model or each model adjusted for possible confounding factors, the risk of NAFLD significantly rose with increasing cardiometabolic index (CMI), triglyceride glucose index (TyG), triglycerides (TG) to high-density lipoprotein cholesterol (HDL-C) ratio (TG/HDL-C), total cholesterol (TC) to HDL-C ratio (TC/HDL-C) and low-density lipoprotein (LDL-C) to HDL-C ratio (LDL-C/HDL-C). Moreover, the area under the curve (AUC) of CMI was 0.744, which was better than that of TyG (0.725), TG/HDL-C (0.715), TC/HDL-C (0.650), and LDL-C/HDL-C (0.644) (P < 0.001). In addition, the optimal cut-off points were 0.62 for CMI, 8.55 for TyG, 1.15 for TG/HDL-C, 4.17 for TC/HDL-C, and 2.22 for LDL-C/HDL-C. CONCLUSIONS: CMI is easy to obtain, is a recommended index in the screening of NAFLD in women and may be useful for detecting populations that are at high risk of NAFLD.

First direct evidence of conservative foraging ecology of early Gigantopithecus blacki (~2 Ma) in Guangxi, southern China.

OBJECTIVES: Gigantopithecus blacki, the largest hominoid known, is one of the representative Pleistocene mammals in southern China and northern Southeast Asia. Here we investigate the feeding ecology of G. blacki in its core habitat (Guangxi, Southern China) during the early Early Pleistocene, which was the early period in its evolution. MATERIALS AND METHODS: The stable isotopic (C, O) analysis of tooth enamel of the fauna associated with G. blacki (n = 58), including the largest number of G. blacki teeth (n = 12) to date from the Liucheng Gigantopithecus Cave (~2 Ma), Guangxi, China, is undertaken. RESULTS: The δ13 C values of Liucheng fauna range from -12.9 to -19.0‰ with an average of -16.1 ± 1.3‰ (n = 58) and the δ18 O values range from -4.3 to -9.6‰ with an average of -6.9 ± 1.2‰ (n = 58). The δ13 C values of G. blacki range from -15.9‰ to -17.0‰ with an average of -16.5 ± 0.4‰ (n = 12), and the δ18 O values vary from -5.9‰ to -7.5‰ with an average of -6.6 ± 0.5‰ (n = 12). CONCLUSIONS: The isotopic data show Guangxi was characterized by closed C3 forest and humid climate in the early Early Pleistocene. Niche partitioning is found among G. blacki, Sinomastodon, Ailuropoda and Stegodon, the typical megafauna in South China in the early Early Pleistocene. This could be one of the important factors for them to co-exist until the Middle Pleistocene. Smallest isotopic variations of G. blacki are found compared with those of contemporary animals, indicating a conservative foraging ecology i.e., limited foraging area and/or narrow dietary flexibility. Furthermore, the more confined foraging ecology of G. blacki is also seen in comparison with fossil and extant large-bodied primates. However, the unique dietary pattern of G. blacki does not seem to have hindered its survival. The environment in Guangxi during the early Early Pleistocene offered the suitable conditions for G. blacki to become one of the typical species in the faunal assemblages.

Association between the APOE gene polymorphism and lipid profile and the risk of atrial fibrillation.

BACKGROUND: The relationship between the APOE gene polymorphism and lipid profiles and atrial fibrillation (AF) remains controversial. The current study purposed to investigate how the APOE gene SNPs (rs429358 and rs7412) and lipid profile are associated with the risk for AF among the Hakka population in southern China. METHODS: Finally, 1367 patients were enrolled in this study, including 706 participants with AF (41 ~ 98 years old, 58.64 % male) and 661 non-AF subjects (28 ~ 95 years old, 59.46 % male). The collected data included baseline characteristics, medical history, laboratory tests and echocardiography parameters. A general linear model (two-way analysis of variance (ANOVA)) and Tukey post-hoc tests were applied to identify an APOE allele, AF group, and interaction effect on lipid profiles. Logistic regression analysis was performed to identify risk factors for AF. RESULTS: For AF group, the most common genotype was E3/E3 (53.82 %), followed by E3/E4 (28.19 %), E2/E3 (13.60 %), E4/E4 (1.98 %), E2/E4 (1.84 %) and E2/E2 (0.57 %). The two-way ANOVA followed by the Tukey procedure showed the following: the lipid levels depended significantly on AF and APOE allele groups for TG, TC, LDL-C and Apo-B (all P < 0.001), and statistically significant interactions between AF and APOE allele were observed in the above 4 variables (all P < 0.05). Multivariate regression analysis indicated that age ≥ 65years (P < 0.001), high diastolic blood pressure (DBP ≥ 90mm Hg, P = 0.018), a high levels of total cholesterol (TC ≥ 5.2mmol/L, P < 0.001) and triglyceride (TG ≥ 1.7mmol/L, P = 0.028), but not the two SNPs of the APOE gene (rs7412 and rs429358) (OR 1.079, P = 0.683), were significant independent risk factors for AF in the study population. CONCLUSIONS: The principal findings of this study showed that individuals at high risk for AF were those over 65 years of age, higher DBP as well as high levels of TC and TG among the southern China Hakka population. The levels of TG, TC, LDL-C and Apo-B depended significantly on AF and APOE allele groups, and statistically significant interactions between AF and APOE allele were observed in the above 4 variables, although the APOE gene SNPs (rs429358 and rs7412) were no significant risk for AF incidence. Further investigation is needed to elucidate whether other SNPs of the APOE gene have a bearing on AF incidents.

Association between apolipoprotein E gene polymorphism and nonalcoholic fatty liver disease in Southern China: A case-control study.

BACKGROUND: Apolipoprotein E (ApoE) polymorphisms have been reported to be associated with nonalcoholic fatty liver disease (NAFLD), but the conclusions of studies are inconsistent in different regions. The present study aims to investigate the role of ApoE genotypes on NAFLD in southern China. METHODS: A total of 1064 subjects including 372 NAFLD patients and 692 controls who attended Meizhou People's Hospital located in southern China from March 1, 2016 to April 30, 2020 were enrolled in this study. The ApoE genotypes were detected and the laboratory parameters were examined. RESULTS: Significant differences were observed between NAFLD patients and controls in the prevalence of ε3/ε3 (p < 0.001) and ε3/ε4 (p = 0.004). NAFLD patients presented higher frequency of ε4 allele than controls (p = 0.013). Logistic regression analysis suggested that ε3/ε3 was an independent risk factor (OR: 1.435, 95% CI: 1.084-1.891, p = 0.010), while ε3/ε4 was an independent protective factor (OR: 0.578, 95% CI: 0.404-0.828, p = 0.003) for development of NAFLD. In addition, allele ε4 showed a protective effect on NAFLD with an adjusted OR of 0.588 (95% CI: 0.420-0.824, p = 0.002). CONCLUSION: Our results suggested that ApoE genotype was associated with the development of NAFLD in the population of southern China. Individuals carrying ε3/ε3 were at higher risk of NAFLD, while those carrying ε3/ε4 were at lower risk of NAFLD.

Mutations of the c-Kit and PDGFRA gene in gastrointestinal stromal tumors among hakka population of Southern China.

AIMS: The aim of the present study was to investigate mutation status of the cKit and PDGFRA genes in patients with a gastrointestinal stromal tumor (GIST). METHODS: In total, 96 patients with a GIST were included in the study, in which polymerase chain reaction amplification and gene sequencing were used to detect the sequences of exons 9, 11, 12, 13, 14, 17, and 18 in KIT and exons 12, 14, and 18 in PDGFRA. RESULTS: KIT mutations were detected in 65 cases (67.71%), of which 81.54% (53/65) were located on exon 11, 12.31% (8/65) were located on exon 9, 4.61% (3/65) were located on exon 17, which included a concomitant mutation of exon 9 and 11, and 4.08% (2/65) were located on exon 13, which included a concomitant mutation on exon 11. The most common mutation in exon 11 was deletion, which accounted for 77.36% (41/53) of the cases, followed by a point mutation observed in 22.64% (12/53) of the cases. Among the 31 GIST cases without a KIT mutation, a mutation in PDGFRA was detected in 5 cases (5.21%, 5/96; 16.13%, 5/31). With respect to gender, age, tumor max diameter, tumor position, and mitotic index, there were no significant differences between KIT/PDGFRA mutations and non-mutations. CONCLUSIONS: GIST mainly occurs in the stomach, and the cytological morphology is mainly spindle cells, and the mutations mainly occur in KIT genes. We need a large sample size to analyze the regularity of GIST gene mutations in Hakka population and understand the independent prognostic correlation of all KIT/PDGFRA genotypes.

Phylogeography, speciation and demographic history: Contrasting evidence from mitochondrial and nuclear markers of the Odorrana graminea sensu lato (Anura, Ranidae) in China.

Understanding the process of speciation and the factors driving the geographical distribution patterns of species is of great interest in ecology and evolutionary biology. Herein, we investigated the phylogeographic patterns, speciation, demographic history and genetic structure of the widespread endemic Odorrana graminea sensu lato in Southern China and adjacent areas. A total of 439 specimens from 68 localities were sequenced and analyzed for both mitochondrial (12S and 16S rRNA) and nuclear markers (RAG-1 and ten microsatellite loci). Phylogenetic analyses of the concatenated mtDNA data revealed five major highly divergent lineages within the O. graminea sensu lato in Southern China, and these divergent lineages were highly concordant with five geographical regions. The nuclear data showed a discordant genetic structure compared to the mtDNA lineages (Clades A, B, and C) for O. graminea sensu stricto, with an admixed pattern in the RAG-1 data and two structure clusters in the microsatellite data. The species delimitation analyses, based on three methods, supported the species status of Odorrana zhaoi and Odorrana rotodora, and revealed the existence of putative cryptic species in the O. graminea sensu stricto. In addition, one statistically significant gene flow event was detected from Clade B to Clade C based on mtDNA and RAG-1 data, and the microsatellite data suggested gene flow within the O. graminea sensu stricto. Bayesian skyline plotting analyses and ecological niche modeling supported demographic and range expansions during the LGM for Clades A and C of the O. graminea sensu stricto. In addition, ecological niche models suggested the existence of ecological divergence among the three Clades (Clades A, B and C) of the O. graminea sensu stricto. The intense uplifting of the Qinghai-Tibetan Plateau, the Quaternary climate oscillations, and drainage changes may have driven the speciation, genetic structure and phylogeoraphic patterns of the O. graminea sensu lato.

Dietary Inflammatory Index and Epithelial Ovarian Cancer in Southern Chinese Women: A Case-Control Study.

The association between inflammatory properties of diet and ovarian cancer risk has been investigated in some Western populations. However, little evidence is available from Asian women whose ovarian cancer incidence rates are low and dietary and lifestyle patterns are very different from their Western counterparts. We aimed to examine whether more pro-inflammatory diets, as indicated by higher dietary inflammatory index (DII®) scores, are associated with increased odds of epithelial ovarian cancer in southern China. A case-control study was conducted during 2006-2008 in Guangzhou, Guangdong Province. Energy-adjusted DII (E-DII) scores were calculated based on dietary intake assessed by a validated food frequency questionnaire administered to 500 incident epithelial ovarian cancer patients and 500 hospital-based controls. Logistic regression models were used to assess the relationship between E-DII scores and odds of ovarian cancer. Positive associations were observed between higher E-DII scores and ovarian cancer odds, using both continuous DII scores (odds ratio (OR) 1.87; 95% confidence interval (CI) 1.65, 2.13) and by DII tertiles (ORtertile3vs1 7.04, 95% CI: 4.70, 10.54, p for trend < 0.001). Likewise, a more pro-inflammatory diet was associated with a higher chance of serous and mucinous ovarian tumors. Our results suggest that a pro-inflammatory diet was associated with increased odds of developing epithelial ovarian cancer in southern Chinese women. The findings add to epidemiological evidence for the role of dietary inflammatory potential in ovarian cancer development.

Clinical and genetic features of patients with amyotrophic lateral sclerosis in southern China.

BACKGROUND AND PURPOSE: Amyotrophic lateral sclerosis (ALS)-related genes and mutations have been increasingly discovered recently and an improved understanding of genotype-phenotype relationships may help to predict the disease course and refine genetic diagnosis. METHODS: We collected clinical data and blood samples from 268 patients and used next-generation sequencing to comprehensively assay genetic variations in a panel of known ALS genes from 2015 to 2019. RESULTS: Among these patients, the mean age of onset was 52.30 ± 10.42 years with a mean diagnosis delay of 15.90 ± 11.88 months. Patients with SOD1, TARDBP and FUS variants were more likely to suffer from familial ALS. Additionally, carriers of FUS variants displayed the earliest onset, followed by those with SOD1 variants. Patients with NEFH variants showed a closer link to pesticide exposure. Patients with SETX variants were prone to bulbar onset with moderate anxiety problems. No genotype-phenotype relations were found in SPG11 and ERBB4 mutants. CONCLUSION: Our findings uncovered some genotype-phenotype relationships and may help to predict the disease course of patients with ALS in southern China.

Hemoglobin variants in southern China: results obtained during the measurement of glycated hemoglobin in a large population.

Objectives: Hemoglobin (Hb) variant is one of the most common monogenic inherited disorders. We aimed to explore the prevalence and hematological and molecular characteristics of Hb variants in southern China. Methods: We collected blood samples from all patients with suspected variants found during HbA1c measurement via a cation-exchange high-performance liquid chromatography system (Bio-Rad Variant II Turbo 2.0) or a capillary electrophoresis method (Sebia Capillarys). Hematological analysis, Sanger sequencing, and gap-PCR were performed for these samples. Results: Among the 311,024 patients tested, we found 1,074 Hb variant carriers, including 823 identified using Capillarys and 251 using Variant II Turbo 2.0, with a total carrier rate of 0.35%. We discovered 117 types of Hb variants (52 HBB, 47 HBA, and 18 HBD mutations) containing 18 new mutations. The most common variant found was Hb E, followed by Hb New York, Hb J-Bangkok, Hb Q-Thailand, Hb G-Coushatta, Hb G-Honolulu, Hb G-Taipei, and Hb Broomhill. Most heterozygotes for the Hb variant exhibited normal hematological parameters. However, most patients with compound heterozygotes for the Hb variant and thalassemia showed varied degrees of microcytic hypochromic anemia. Conclusions: The prevalence of hemoglobin variants remains high and exhibits genetic diversity and widespread distribution in the population of southern China.