The epidemic of multidrug-resistant tuberculosis (MDR-TB) is a serious public health hazard. China is one of the countries with high MDR-TB disease burden.
To analyze the current status and changing trends of MDR-TB disease burden in China from 1992 to 2021, and to provide a reference for the development of prevention and control strategies.
Disease burden data of MDR-TB of China, the global and different socio-demographic index (SDI) regions from 1992-2021 were extracted from the Global Burden of Disease database 2021 (GBD 2021), and the Joinpoint regression model was used to calculate the annual percentage change (APC) and average annual percentage change (AAPC) to describe changing trends. Age-period-cohort model was used to analyze the age, period and cohort effects of MDR-TB incidence and mortality in China.
From 1992 to 2021, the standardized incidence rate and standardized mortality rate of MDR-TB in China decreased from 7.72/100 000 and 2.21/100 000 to 1.49/100 000 and 0.15/100 000, respectively, with decreases of 80.70% and 93.21%, respectively. In 2021, China's MDR-TB standardized incidence rate and standardized mortality rate were in the lower middle level among the global and different SDI regions, but the burden was still heavier compared with that in high SDI regions. The results of the Joinpoint analysis showed that, in terms of regional differences, the AAPC of MDR-TB standardized incidence rate and standardized mortality rate in China from 1992 to 2021 were -5.51% and -9.06%, respectively, which were on decreasing trends (P<0.05). In terms of gender differences, both the standardized incidence rate and standardized mortality rate of MDR-TB decreased more rapidly in females (AAPC was -5.91% and -10.08%, respectively, P<0.05) than in males (AAPC was -5.26% and -8.51%, respectively, P<0.05), and the disease burden was higher in males than in females. In terms of age differences, the fastest decrease of the incidence rate of MDR-TB occurred at 85-89 years old (AAPC=-6.04%, P<0.05), and the fastest decrease of the mortality rate was occurred at 15-19 years old (AAPC=-9.88%, P<0.05). The results of the APC analysis showed that the net shift values of the incidence rate of MDR-TB and the mortality rate in China from 1992 to 2021 were -7.78% and -11.07%, respectively. The age effect showed that the incidence rate fluctuated and increased with age increase, and the mortality rate showed a monotonous increment, both of which reached their maximum values at 85-89 years old, with 22.10/100 000 and 16.58/100 000, respectively. The period effect showed that the risk of incidence and mortality decreased with the passage of years, and the risk ratio (RR) of incidence and mortality decreased from 1.55 and 1.87 to 0.26 and 0.13, respectively. The cohort effect showed that the risk of incidence and mortality decreased with the backward movement of birth cohort, and the RR of incidence and mortality decreased from 44.01 and 185.33 to 0.02 and 0.01, respectively.
The disease burden of MDR-TB in China showed a decreasing trend overall from 1992 to 2021, but the speed of decrease gradually slowed down, and the disease burden was still heavier compared with that in high SDI regions. Males and the elderly are high disease burden groups, and the popularisation of MDR-TB health education and early diagnosis and treatment should be strengthened.
Osteoarthritis (OA) seriously endangers the physical and mental health of patients. Currently, systematic studies on the disease burden of OA are limited.
To analyze the current status and disease burden of OA disease in the world, China, and regions with different socio-demographic indexes (SDI) from 1990 to 2021, to formulate and adjust prevention strategies for OA.
The 2021 Global Burden of Disease database was used to analyze the incidence, prevalence, and disability-adjusted life years (DALYs) rates of OA in the world, China, and different SDI regions. The average annual percentage change (AAPC) was used to comprehensively evaluate the trend of OA burden in the world, China, and different SDI regions from 1990 to 2021.
The global incidence, prevalence, and DALYs rate of OA increased from 391.86/100 000, 4 801.18/100 000, and 167.22/100 000 in 1990 to 590.93/100 000, 7 691.83/100 000 and 269.97/100 000 in 2021, respectively. The incidence, prevalence, and DALYs rate of OA in China increased from 395.61/100 000, 4 535.01/100 000, and 155.5/100 000 in 1990 to 641.62/100 000, 10 743.18/100 000, and 374.44/100 000 in 2021, respectively. In 2021, the incidence, prevalence, and DALYs rate of OA in females in China were 1 004.99/100 000, 13 332.37/100 000, and 465.35/100 000, respectively, which were significantly higher than 641.62/100 000, 8 272.97/100 000 and 287.71/100 000 in males. The global incidence, prevalence, and DALYs rate of OA showed an increasing trend from 1990 to 2021 (AAPC=1.35%, 95%CI=1.33%-1.37%; AAPC=1.54%, 95%CI=1.52%-1.56%; AAPC=1.56%, 95%CI=1.54%-1.59%) (P<0.05). The incidence, prevalence, and DALYs rate of OA in China increased from 1990 to 2021 (AAPC=2.47%, 95%CI=2.36%-2.59%; AAPC=2.90%, 95%CI=2.80%-3.00%; AAPC=2.94%, 95%CI=2.85%-3.04%) (P<0.05). From 1990 to 2021, the standardized incidence, prevalence and DALYs rate of OA in the world, China, and different SDI regions showed an upward trend, and the disease burden of OA was significantly different in different regions.
The incidence, prevalence, and DALYs rate of OA is increasing globally, in China, and different SDI regions, and the burden of OA is increasing. In addition, the disease burden of OA varies greatly among different regions, genders, and ages.
Rheumatoid arthritis (RA) is a common chronic autoimmune disease, the treatment and care of which requires long-term investment, including drug therapy, surgical treatment and rehabilitation, etc., which imposes heavy economic and social burdens on the patient's family and the society, and an analysis of the trend of change in the burden of disease and the prediction of the burden of disease can provide references for the formulation of relevant prevention and treatment strategies.
To understand the changes in the burden of disease of RA in China from 1990 to 2021 and to predict the incidence, prevalence, and disability adjusted life years (DALYs) rates of RA in China from 2022 to 2042.
Burden of disease indicators such as DALYs, incidence and prevalence of RA from the Global Burden of Disease Study 2021 (GBD 2021) were extracted for the years 1990-2021, and the rate of change and estimated annual percentage change (EAPC) were calculated using SPSS 27.0, respectively. The autoregressive sliding average model (ARIMA) was used to project the incidence, prevalence and DALYs rates for 2022-2042.
In 2021, the incidence, prevalence and DALYs rate of RA in China were 17.38/100 000, 334.25/100 000 and 58.61/100 000, respectively, which were 59.89%, 92.61% and 71.07% higher than those in 1990, and the incidence, prevalence and DALYs rate of RA in China showed an increasing trend between 1990-2021, with an EAPC 1.61%, 2.33% and 2.02%, respectively (P<0.05). The rates of incidence, prevalence, and DALYs in women were 22.55/100 000, 460.19/100 000, and 78.25/100 000, which in men were 12.45/100 000, 214.09/100 000, and 39.87/100 000 in 2021. In 2021, China's RA incidence reached its highest in the age group of 75-79 years (34.37/100 000), the prevalence in the 80 years old and above reached the highest (836.13/100 000), and the rate of DALYs was highest in the age group of 80 years old and above (223.81/100 000). The results of the ARIMA model showed that the incidence rate of RA in China was projected to be 20.26/100 000, the prevalence rate to be 468.60/100 000, and the rate of DALYs to be 82.09/100 000 in 2042, in which the incidence rate had increased by 15.57%, the prevalence rate and the rate of DALYs had increased by 37.94% and 37.90% respectively from the 2022 level, and there were significant age differences.
There is a clear trend of increasing disease burden of RA in China from 1990 to 2021, with age and gender differences. Incidence, prevalence and DALYs due to RA are expected to continue to rise by 2042. This suggests that the RA in China should implement appropriate primary and secondary prevention measures for key populations such as the elderly and menopausal women.
At present, there are limited systematic studies on the burden of migraine disease in young people aged 10~24 years in China.
Analyzing the current burden of migraine among Chinese young people in 2021, and exploring the changing trends in the burden of migraine from 1990 to 2021 by age, gender, and temporal patterns.
From the Global Burden of Disease (GBD) database, migraine data from 1990 to 2021 were extracted, with prevalence, incidence, and disability-adjusted life years (DALYs) selected as indicators to assess the burden of migraine. Assess the trends in the changes of prevalence rate, incidence rate, and DALYs rate cases in 2021 compared to 1990 by using percentage changes. Establishing the estimated annual percentage change (EAPC) model to assess the trends in prevalence, incidence, and DALYs rates over the past 32 years.
In 2021, the Chinese prevalence, incidence, and DALYs cases of migraine among young people were 27.638 million, 3.498 million, and 1.03 million person-years, respectively, which respectively account for 1/11 of the global cases and 30% of the middle socio-demographic index (Middle SDI) regions. However, the prevalence rate, incidence rate, and DALYs rate in China were all lower than those in the global and Middle SDI regions. Specifically, the prevalence rate among young people in China was 11 809.0 per 100 000 population, which was lower than the global rate of 16 108.1 per 100 000 and the rate in Middle SDI regions of 16 455.8 per 100 000 population. From 1990 to 2021, the prevalence rate, incidence rate, and DALYs rate of migraine among young people in China all showed an increasing trend. The prevalence rate rose from 11 556.5 (95%UI=9 120.2-14 491.3) per 100 000 population in 1990 to 11 809.0 (95%UI=9 167.3-14 976.8) per 100 000 population in 2021, with an EAPC of 0.28 (95%CI=0.15-0.40). The incidence rate increased from 1 379.5 (95%UI=1 075.3-1 708.2) per 100 000 population in 1990 to 1 494.6 (95%UI=1 168.5-1 826.5) per 100 000 population in 2021, with an EAPC of 0.17 (95%CI=0.10-0.24). The DALYs rate rose from 430.9 (95%UI=42.0-1 033.0) per 100 000 population in 1990 to 440.2 (95%UI=39.4-1 066.6) per 100 000 population in 2021, with an EAPC of 0.29 (95%CI=0.16-0.42). Compared to 1990, the number of prevalent cases, incident cases, and DALYs cases of migraine among young people in China decreased by approximately one-third in 2021. Additionally, there were significant age and gender differences in the migraine burden among young people in China. A particularly noticeable upward trend in prevalence, incidence, and DALYs rates was observed in the 10-14 age group, with EAPCs of 0.28 (95%CI=0.24-0.33), 0.27 (95%CI=0.22-0.33), and 0.29 (95%CI=0.25-0.34). The migraine burden among young women in China was higher than that in men. In 2021, women aged 10-14, 15-19, 20-24, and the overall 10-24 age group had prevalence, incidence, and DALYs rates approximately 1.7 times higher than those of men.
From 1990 to 2021, the prevalent cases, incidenct cases, and DALYs cases of migraine among Chinese young people have all shown an increasing trend. Among young people in each age group, the migraine burden is higher in females than in males. Based on age distribution, despite the relatively low burden of migraine among young people aged 10-14 in China, this age group has experienced the fastest growth rate in disease burden. These characteristics indicate the need for targeted intervention measures for adolescent migraine issues in China.
Overweight, obesity, and central obesity have become significant public health issues globally, affecting the well-being of residents. Analyzing the prevalence trends of overweight, obesity, and central obesity among residents in Shanxi Province can provide valuable scientific insights for the prevention and control of related diseases.
To analyze the prevalence and trends of overweight, obesity, and central obesity among adults aged 20 and above in Shanxi Province between 2010 and 2018.
The survey data of adults aged 20 and above in Shanxi Province were collected during four rounds of the China Chronic Disease Surveillance project from August 2010 to November 2018 (in 2010, 2013, 2015, and 2018) to calculate the rates of overweight, obesity, and central obesity among adults aged 20 and above in different years, and analyze the prevalence trends of overweight, obesity and central obesity for different characteristics of the study subjects.
From 2010 to 2018, the overall crude rates and age- and gender-standardized rates of overweight among adults aged 20 and above in Shanxi Province ranged from 37.7% to 40.1% and 36.1% to 39.6%, respectively, with no significant upward trend (Z=0.005, 2.413; P=0.942, 0.120). The overall standardized obesity rate, overall crude rate of central obesity and the standardized rate central of obesity increased from 17.2%, 53.8%, and 52.4% in 2010 to 20.0%, 61.6%, and 60.2% in 2018, respectively (Z=8.100, 10.994, 12.218; P<0.05). From 2010 to 2018, there was no significant trends in the comparison of the overall crude overweight rate and the standardized overweight rate among adults aged 20 years and above by age, gender and region (P>0.05) ; the standardized overweight rate for males was higher than that for females (χ2=4.259, P<0.05), while the standardized obesity rate was lower than that for females (χ2=13.724, P<0.001) in 2013; no statistically significant differences between genders were observed at other time points (P>0.05) ; the overall obesity rate, male obesity rate, and both male and female central obesity rates in the age group of 20-39 years old showed an upward trend during the 8-year period (P<0.05). From 2010 to 2018, the standardized rates of overweight, obesity, and central obesity among urban residents were overall higher than those among rural residents (P<0.05). Specifically, significant differences were observed in the standardized overweight rates in 2013 and 2015, the standardized obesity rates in 2010 and 2015, and the standardized central obesity rates in 2015 and 2018 (P<0.05). The results of the Joinpoint regression analysis revealed that, from 2010 to 2018, the age-standardized overweight rate among females in Shanxi Province exhibited a decreasing trend (APC=-0.57, P<0.05), while the age-standardized obesity rate among males showed an increasing trend (APC=2.72, P<0.05). The standardized rates of overweight, obesity, and central obesity among urban and rural residents remained relatively stable over the 8-year period (P>0.05). There was also no significant difference in the trends of these rates between different genders and regions (P>0.05) .
From 2010 to 2018, the overweight rate among residents aged 20 and above in Shanxi Province remained stable, while the overall trends for obesity and central obesity rates showed an increasing trend. The prevention and control of obesity and central obesity should focus on the population aged 20-39 years to slow down the growth rate. For residents aged 40 and above, as well as urban residents, targeted prevention strategies should be implemented, so as to control the prevalence of overweight, obesity, and central obesity.
Urinary incontinence often occurs in women aged 40-60 years and contributes to a significant impact on women's physical health and quality of life.
To explore the prevalence and influencing factors of urinary incontinence and its impact on quality of life in women aged 40-60 years in Guizhou Province.
From June 2022 to January 2023, women aged 40-60 years who underwent health checkups in 10 hospitals in 7 regions of Guizhou Province were selected as the study subjects. A self-designed general data questionnaire was used to collect the basic data of the study subjects, and International Consultation on Incontinence Questionnaire-Female Lower Urinary Tract Symptoms (ICIQ-FLUTS) and Incontinence Quality of Life Measure (I-QoL) were used to determine the severity of urinary incontinence and the level of quality of life of the study subjects, respectively. Different types of incontinence, including stress incontinence, urge incontinence, and mixed incontinence, were determined according to the diagnostic criteria established by the International Continence Society (ICS). Multivariate Logistic regression analysis was used to explore the influencing factors of urinary incontinence, and explore the effects of different types and severity levels of urinary incontinence on patients' quality of life.
A total of 3 000 questionnaires were distributed, and 2 966 valid questionnaires were collected, with a valid recovery rate of 98.9%. The prevalence of urinary incontinence among the 2 966 study subjects was 33.4% (991/2 966), including 20.1% (596/2 966) for stress incontinence, 2.0% (58/2 966) for urge incontinence, and 11.4% (337/2 966) for mixed incontinence. Multivariate Logistic regression analysis showed that physical exercise, menstrual status, parity, history of pelvic organ prolapse, perineal laceration, and lateral episiotomy were the influencing factors of stress incontinence (P<0.05) ; history of pelvic surgery, number of miscarriages, and neonatal weight were the influencing factors of urge incontinence (P<0.05), waist circumference, history of chronic pelvic pain, pelvic organ prolapse, perineal laceration were factors associated with mixed incontinence (P<0.05). The total score of I-QoL, scores of behavioral limitations, psychological impact, and social activities impairment were lower in patients with mixed incontinence than those with stress and urge incontinence (P<0.05) ; the total score of I-QoL, scores of behavioral limitations, psychological impact, and social activity impairment were lower in the severe incontinence patients than those with mild and moderate incontinence (P<0.05) .
Guizhou Province has a higher prevalence of urinary incontinence of 33.41% in women aged 40-60 years, influencing factors differ for different types of urinary incontinence, mixed incontinence and severe urinary incontinence have the greatest impact on patients' quality of life, to provide a reference basis for prevention and health management in this population.
Colorectal cancer has become the third most prevalent malignant tumor in Jiading district of Shanghai, and its disease burden is still increasing.
To analyze the epidemic trend of colorectal cancer in Jiading district of Shanghai from 2003 to 2019 and provide scientific basis for the prevention and treatment of colorectal cancer.
Based on the cancer registration data from 2003 to 2019 in Jiading district of Shanghai, the statistical indicators such as crude incidence rate, crude mortality rate, standardized incidence rate and standardized mortality rate were calculated (the rate was standardized using the Chinese standard population of 2010). Joinpoint Regression Program 4.9.1.0 software was used to analyze the trends of incidence rate and mortality rate.
From 2003 to 2019, there were 5 020 new cases of colorectal cancer in Jiading district of Shanghai, with a crude incidence rate of 52.12/100 000, a standardized incidence rate of 26.27/100 000; there were 2 419 deaths, with a crude mortality rate of 25.12/100 000, and a standardized mortality rate of 11.16/100 000; with males having higher crude incidence and crude mortality rates than females (P<0.05). There was an overall upward trend in the total population standardized incidence rate (APC=2.63%, P<0.05), with an increasing trend in the male standardized incidence rate (APC=3.48%, P<0.05), and no significant trend in the female standardized incidence rate (APC=1.39%, P=0.119), while no turning point was found. There was no significant trend in the total population standardized mortality rate (APC=-0.49%, P=0.250), of which there was no significant trend in the male standardized mortality rate (APC=0.34%, P=0.545), and a decreasing trend in the female standardized mortality rate (APC=-1.94%, P<0.05) .
From 2003 to 2019, the overall incidence rate of colorectal cancer in Jiading district of Shanghai still increased, among which there was an upward trend in males and no significant change in the trend for females. There was no significant trend in the overall mortality rate, among which there was no significant change in males and a downward trend in females. The prevention and control of colorectal cancer should continue to be strengthened, with a focus on the male population.
Characteristics of Cancer Epidemiology among 0-14 years old Chinese Children，2005—2015
Cancer has become a leading cause of death for Chinese children, imposing a great economic burden on society and families. Therefore, it is extremely important to understand the epidemicsizes and trends of childhood malignancies.
To analyze the epidemiological characteristics of childhood cancer in China from 2005 to 2015, so as to provide evidence for the formulation of prevention and control strategies and rational allocation of health resources concerning childhood cancer in China.
Data regarding cancer incidence and mortality in Chinese 0-14 years old children during 2008 to 2018 were collected from the Chinese Cancer Registry Annual Report. Age-standardized incidence and mortality rates were computed by dividing the number of child deaths caused by cancer by the fifth national population census (2010) and multiplying by 100 000. Joinpoint Regression Program was used to compute the annual percentage change (APC) to analyze the temporal trends of annual child cancer incidence and mortality rates.
(1) During the period of 2005 to 2015, the median crude incidence rate and median crude mortality rate of cancer in 0-14 years old were 9.35/100 000, and 3.91/100 000, respectively. The median crude incidence and median crude mortality rate of 0-4 years old group were higher than those of 5-9 years old group and 10-14 years old group (P<0.05) . (2) The median crude incidence rate (10.21/100 000 vs 8.91/100 000) and median crude mortality rate (4.18/100 000 vs 3.47/100 000) of cancer in male children aged 0-14 years old were higher than those of female children of the same age (P<0.05) . (3) The median crude incidence rate (10.87/100 000 vs 7.20/100 000) and median crude mortalityrate (4.08/100 000 vs 3.54 /100 000) of cancer in urban children aged 0-14 years old were higher than those of rural children of the same age (P<0.05) . (4) The median crude mortality rate of cancer showed an upward trend in 0-14 years old in the period of 2005 to 2015 (APC=1.01%, P<0.05) ; amomg them, the median crude mortality rate in the 0-4 years old group showed an decreased trend (APC=-1.19%, P<0.05) ; the median crude mortality rate in the 5-9 years old group showed an increased trend (APC=2.50%, P<0.05) ; the median crude mortality rate in the 10-14 years old group was stable over time. (5) The median crude incidence rate and median crude mortality rate of cancer in rural 0-14 years old in rural areas presented an upward trend over the period 2005 to 2015 (APC=7.73%, 2.22%, P<0.05) . (6) The top six cancers among children aged 0-14 years old in this period were: leukemia, brain cancer, lymphoma, bone cancer, kidney cancer and liver cancer.
The cancer incidence and mortality rate in Chinese 0-14 years old children showed different features by time, age group or geographical region (rural or urban) . Priorities for containing cancer should be given to rural children, 5-9 years old children or children with brain cancer or leukemia.
Ovarian Cancer in China：Trends in Incidence and Mortality，2005—2016
The health impairment caused by ovarian cancer in female population has become a global focus. However, there is a lack of research on ovarian cancer incidence and mortality trends in Chinese female population.
To describe the trends of ovarian cancer incidence and mortality in China from 2005 to 2016 by analyzing the incidence and death data of ovarian cancer collected from Chinese Cancer Registry Annual Report, providing a basis for the scientific prevention and control of ovarian cancer in China.
The incidence and mortality of ovarian cancer in China during 2005 to 2016 were collected and input into Excel spreadsheets, then the annual age-standardized incidence rate, age-standardized mortality rate, age-specific incidence rate and age-specific mortality rate were computed. Joinpoint Regression Program was used to estimate the annual percentage change (APC) , and average annual percentage change (AAPC) to analyze the temporal trends of annual ovarian cancer incidence and mortality rates.
The incidence rate of ovarian cancer showed a trend of rapid increase over the period of 2005 to 2016 (AAPC=7.25%, P<0.05) . The annual age-standardized ovarian cancer incidence rate in urban areas was higher than that in rural areas in each year. The ovarian cancer incidence rate increased obviously with age in women over the age of 35, and peaked in those aged 55 years old. From 2005 to 2016, the overall ovarian cancer mortality rate showed a rapid upward trend (AAPC=6.06%, P<0.05) . The age-standardized ovarian cancer mortality rate in urban areas was higher than that in rural areas. The mortality rate increased rapidly with age in women over 35 years of age, but decreased gradually in those aged over 75 years.
Both ovarian cancer incidence and mortality rates during 2005 to 2016 in China increased rapidly, but with age-specific and urban-rural differences. Therefore, targeted interventions should be taken, and strategies for ovarian cancer prevention and treatment should be developed to reduce the risk of ovarian cancer.
Trends of Laryngeal Cancer Incidence and Mortality in China，2005—2016
The human health damage caused by laryngeal cancer has attracted worldwide attention. But there is a lack of research on the incidence and mortality trend of laryngeal cancer among Chinese residents from 2005 to 2016.
To describe laryngeal cancer incidence and mortality trends in China from 2005 to 2016 by analyzing the incidence and death data of laryngeal cancer collected from Chinese Cancer Registry Annual Report, providing a reference for scientific prevention and control of laryngeal cancer in China.
Data about laryngeal cancer incidence and death in China during 2005—2016 were collected and input into Excel spreadsheets, then the annual standardized incidence, standardized mortality, age-specific incidence and age-specific mortality were calculated. Age-standardized rates were calculated by dividing the number of deaths caused by laryngeal cancer by the fifth national population census (2000) and multiplying by 1 000. Joinpoint Regression Program was adopted to calculate annual percentage change (APC) and average annual percentage change (AAPC) to analyze the temporal trends of annual laryngeal cancer incidence and mortality rates.
From 2005 to 2016, the standardized incidence rate of laryngeal cancer in Chinese residents showed a decreasing trend (AAPC=-2.25%, P<0.05) . The overall standardized incidence rate of laryngeal cancer in urban areas was higher than that in rural areas. Males had a significantly higher standardized incidence rate of laryngeal cancer than did females. The incidence of laryngeal cancer increased with age in those aged over 40 years, showing a significant upward trend. And the annual incidence peaks were concentrated in the 70-75-year-old age group. From 2005 to 2014, the overall standardized mortality rate of laryngeal cancer showed a decreasing trend (APC=-1.67%, P<0.05) , although it increased in 2014—2016, the increase was insignificant (P>0.05) . The overall standardized mortality rate in urban areas was higher than that in rural areas. Males had a significantly higher standardized mortality rate than did females. The mortality rate increased gradually with age in those over 40 years old.
By and large, the standardized incidence and mortality rates of laryngeal cancer in China showed a downward trend from 2005 to 2016, but showed sex- and age-specific and urban-rural differences. Therefore, targeted measures should be actively taken to develop prevention and treatment strategies to reduce the harm of laryngeal cancer.
Results of Hearing Test Combined with Gene Test for Deafness in Patients with Hearing Impairment：an Analysis of 5 664 Cases from Shandong Province
As a common disease causing human health impairment and disability, deafness has a leading morbidity among all the disabling diseases. Many factors could lead to deafness, among which genetic factors account for about 60%. Gene screening and pedigree analysis can be used to determine whether one has hereditary deafness, so as to provide corresponding genetic counseling services for hereditary deafness patients to stop the transmission of deafness from one generation to the next.
To investigate the hearing loss status and prevalence of mutations in genes associated with deafness in deafness patients from Shandong, to identify pathogenic causes of hearing impairment.
Our study included a total of 5 664 hearing-impaired patients with a hearing disability certificate or a diagnosis of hearing loss, who participated in the genetic testing program for hereditary hearing loss in Shandong Province from 2016 to 2020. Hearing loss was tested by pure-tone audiometry. Genetic testing was carried out with DNA microarray to detect mutations at 15 loci in four common hereditary deafness-related genes.
Among the 5 664 cases, 3 891 had grade 1 (mild) hearing disability, 1 463 had grade 2 (moderate) hearing disability, 188 had grade 3 (severe) hearing disability, 73 had grade 4 (profound) hearing disability, and the remaining 49 consisting of 38 cases of microtia and 11 cases of external auditory canal closure. In terms of deafness-related gene mutations, 2 503 cases were detected with mutations, 1 227 of them (21.66%) carrying GJB2 gene mutations, 975 (17.21%) carrying SLC26A4 gene mutations, 97 (1.71%) carrying mitochondrial 12S rRNA gene mutations, 158 (2.79%) carrying GJB3 gene mutations, and 46 (0.81%) carrying double heterozygous mutations. Both GJB2 and SLC26A4 gene mutations were hotspot mutations in patients with grades 1-4 hearing disability. The prevalence of mutations in GJB2 and SLC26A4 genes was higher in those with grade 1 hearing disability than in those with grade 2 hearing disability (P<0.05) .
Of four common genes related to hereditary deafness, mutations in GJB2 and SLC26A4 genes have been found to be major hotspot mutations in these participants from Shandong. Further research needs to be carried out in many unknown areas for deafness-related genes. Besides, marriage and childbirth guidance for individuals of different genotypes could reduce the vertical transmission of deafness in deaf-to-deaf marriages and subsequently control the birth of new hearing-impaired children in the region.
