Search

Genome wide association studies (GWASs) have revealed multiple genetic variants associated with leprosy in the Chinese population. The aim of our study was to utilize the genetic variants to construct a risk prediction model through a weighted genetic risk score (GRS) in a Chinese set and to further assess the performance of the model in identifying higher-risk contact individuals in an independent set. The highest prediction accuracy, with an area under the curve (AUC) of 0.743 (95% confidence interval (CI): 0.729–0.757), was achieved with a GRS encompassing 25 GWAS variants in a discovery set that included 2,144 people affected by leprosy and 2,671 controls. Individuals in the high-risk group, based on genetic factors (GRS > 28.06), have a 24.65 higher odds ratio (OR) for developing leprosy relative to those in the low-risk group (GRS≤18.17). The model was then applied to a validation set consisting of 1,385 people affected by leprosy and 7,541 individuals in contact with leprosy, which yielded a discriminatory ability with an AUC of 0.707 (95% CI: 0.691–0.723). When a GRS cut-off value of 22.38 was selected with the optimal sensitivity and specificity, it was found that 39.31% of high risk contact individuals should be screened in order to detect leprosy in 64.9% of those people affected by leprosy. In summary, we developed and validated a risk model for the prediction of leprosy that showed good discrimination capabilities, which may help physicians in the identification of patients coming into contact with leprosy and are at a higher-risk of developing this condition. [ABSTRACT FROM AUTHOR]

The biological connections between psoriasis and diabetes have been suggested by epidemiological, immunological and genetic studies. To identify additional shared susceptibility loci and investigate shared pathogenesis between these two diseases, we genotyped 89 reported diabetes susceptibility loci in 4456 psoriasis cases and 6027 controls of Chinese population using the Mass ARRAY system from Sequenom. We discovered three significant associations at rs6679677 on 1p13.2 ( P=6.15×10−5, OR=5.07), rs16861329 on 3q27.3 ( P=2.02×10−4, OR=0.87) and rs849135 on 7p15.1 ( P=6.59×10−9, OR=1.78), which suggested PTPN22, ST6 GAL1 and JAZF1 as novel susceptibility genes for psoriasis in Chinese population. Our findings implicated the involvement of T-cell receptor signalling pathway in the pathogenesis of psoriasis and further confirmed the shared genetic susceptibility between psoriasis and diabetes. [ABSTRACT FROM AUTHOR]

Background: A population-based study of Chlamydia trachomatis (CT) infections is essential in designing a specific control program; however, no large investigation of CT infections among the general population in mainland China has been conducted since 2000. We aimed to determine the prevalence, risk factors, and associated medical costs of CT among residents, 18-49 years of age, in Shandong, China.Methods: From May to August 2016, a multistage probability sampling survey involving 8074 individuals was distributed. Data were collected via face-to-face interviews, followed by self-administered questionnaire surveys. First-void urines were collected and tested for CT and Neisseria gonorrhoeae (NG) using nucleic acid amplification.Results: The weighted prevalence of CT infection was 2.3% (95% confidence interval [CI], 1.5-3.2) in females and 2.7% (1.6-3.8) in males. Women, 30-34 years of age, had the highest prevalence of CT infections (3.5%, 2.6-4.4), while the highest prevalence of CT infections in males was in those 18-24 years of age (4.3%, 0.0-8.8). Neisseria gonorrhoeae infection had a prevalence of 0.1% (0.0-0.3) in women and 0.03% (0.0-0.1) in men. Risk factors for CT infections among females included being unmarried, divorced, or widowed (odds ratio [OR], 95% CI 3.57, 1.54-8.24) and having two or more lifetime sex partners (3.72, 1.14-12.16). Among males, first intercourse before 20 years of age (1.83, 1.10-3.02) and having two or more lifetime sex partners (1.85, 1.14-3.02) were associated with CT infections. The estimated lifetime cost of CT infections in patients 18-49 years of age in Shandong was 273 million (range, 172-374 million) China Renminbi in 2016.Conclusions: This study demonstrated a high burden of CT infections among females < 35 years of age and males < 25 years of age in Shandong. Thus, a CT infection control program should focus on this population, as well as others with identified risk factors. [ABSTRACT FROM AUTHOR]

Of eight leprosy susceptibility loci identified by genome-wide association studies, five have been implicated in Crohn disease, suggesting a common genetic fingerprint between leprosy and inflammatory bowel disease (IBD). Here, we conducted a multiple-stage genetic association study of 133 IBD susceptibility loci in multiple leprosy samples (totaling 4,971 leprosy cases and 5,503 controls) from a Chinese population and discovered two associations at rs2058660 on 2q12.1 (p = 4.57 × 10−19; odds ratio [OR] = 1.30) and rs6871626 on 5q33.3 (p = 3.95 × 10−18; OR = 0.75), implicating IL18RAP/IL18R1 and IL12B as susceptibility genes for leprosy. Our study reveals the important role of IL12/IL18-mediated transcriptional regulation of IFN-γ production in leprosy, and together with previous findings, it demonstrates the shared genetic susceptibility between infectious and inflammatory diseases. [Copyright &y& Elsevier]