Objective:To investigate different sleep duration and glucose and lipid metabolism levels in residents of a community in Urumqi.Methods:Using the 2 049 residents′ data of chronic metabolic disease in a community of Urumqi collected in May 2017, 1 822 subjects aged between 19-80 years with complete information were enrolled, their blood pressure, waist circumference, height, weight, body mass index were measured and recorded. Using oral glucose tolerance test to measure fasting and 2 h after meal plasma glucose, uric acid, HbA 1C, total cholesterol, triglyceride, low density lipoprotein-cholesterol (LDL-C), high density lipoprotein-cholesterol (HDL-C) levels were all tested. Results:(1)There were 363 (19.9%), 1 349 (74.0%), and 110 (6.1%) respondents with sleep time≤6.0, 6.1 to 8.0, and>8.0 h/d, respectively. There were statistically significant differences in age, education, and family income in groups with different sleep time ( P<0.05), while their gender, smoking status, and exercise status were not statistically significant ( P>0.05). The rates of overweight, obesity, abdominal obesity, high uric acid, and hypertension in people with different sleep durations were statistically different ( P<0.01). The rates of the above indicators were higher in the group of sleep time≤6.0 h/d than the other two groups. (2) Differences in diastolic blood pressure, systolic blood pressure, body mass index, abdominal circumference, total cholesterol, and LDL-C levels were statistically significant among different sleep duration groups ( P<0.05). Further comparisons of the above indicators among three groups with different sleep durations were performed ( P<0.05). The levels of the above indicators in the sleep time≤6.0 h/d group were higher than those in the other two groups. There were no significant differences in fasting blood glucose, glycated hemoglobin, uric acid, triglyceride, and HDL-C among the three groups. (3) Multivariate logistic regression analysis showed that groups whether or not adjusted of age, family income, and education level, sleep time≤6.0 h/d was related to abdominal obesity, and sleep time≤6.0 h/d was be a risk factor for abdominal obesity [Unadjusted: OR=1.48(95% CI1.04-2.08); Adjusted: OR=1.65(95% CI1.18-2.32; P<0.05]. Conclusion:Sleep time ≤6.0 h/d is associated with abdominal obesity, and sleep time≤6.0 h/d may be a risk factor for abdominal obesity.

The clinical data of a patient with non-classical 21-hydroxylase deficiency ( 21-OHD) were retrospectively analyzed. The CYP21A2 gene analysis was performed on the patient and his family members by PCR-DNA direct sequencing. It was found that the proband had a heterozygous mutation [ point mutation:p.Ile173Asn, p. ( Ile237Asn, Val238Glu, Met240Lys ), p. Val282Leu, p. Gln319Ter, p. Arg357Trp, insertion mutation: p.Leu308Phefs?6, deletion/insert mutation: p. Arg484Profs]. Among the members of the family, the patient's eldest sister and three paternal members all carried the p.Val282Leu heterozygous mutation, and the patient's second sister and two maternal members carried the same p. Val282Leu homozygous mutation and other compound heterozygous mutations just as the proband. The proband presented a non-classical phenotype with ultimately normal height and fertility. It is suggested that the potential phenotype of the disease is related to the residual activity of its allele, and there exists a good genotype-phenotype correlation.

Objective:To explore the correlation between rs231775 polymorphism of cytotoxic T lymphocyte-associated antigen 4 (CTLA4) gene and autoimmune thyroid disease (AITD) of Uygur in Xinjiang Uygur Autonomous Region.Methods:A total of 382 Uygur patients with AITD [including 328 Hashimoto's thyroiditis (HT) patients and 54 Graves' disease (GD) patients] diagnosed in the People's Hospital of Xinjiang Uygur Autonomous Region from January 2017 to December 2018 were selected as the case group, and 383 Uygur health physical examiners in the same period were selected as the control group. The whole blood genomic DNA of the study subjects was extracted, and the Sequenom-mass spectrometry analysis platform was used to determine the genotyping of CTLA4 gene single nucleotide polymorphism (SNP) locus rs231775 and analyze the genetic model, and the correlation between rs231775 polymorphism and AITD under different genetic models was compared. The logistic regression analysis model was used to analyze the influencing factors of AITD. And the thyroid function index of different genotype population was compared.Results:In the case group and the control group, the differences of CTLA4 gene rs231775 alleles (A: 41.88%, 49.35%; G: 58.12%, 50.65%) and genotype frequencies (AA: 17.80%, 23.24%; AG: 48.17%, 52.22%; GG: 34.03%, 24.54%) were statistically significant (χ 2=8.586, 9.260, P < 0.05). Compared with the control group, the genotype frequency of rs231775 in HT group, the alleles and genotype frequencies of rs231775 in GD group were significantly different (χ 2=5.997, 11.130, 10.210, P < 0.05). Under the additive and dominant models, the CTLA4 gene rs231775 was correlated with AITD [odds ratio ( OR)=0.67, 0.55, 0.63] and HT ( OR=0.69, 0.62, 0.67, P < 0.05); and correlated with GD under the additive, dominant and recessive genetic models ( OR=0.53, 0.23, 0.44, 0.34, P < 0.05). The logistic regression analysis showed that genotype, gender, age, thyroid stimulating hormone (TSH) and free thyroxine (FT 4) were independent influencing factors of AITD ( P < 0.05). Among all the subjects, the level of thyroglobulin antibody(TgAb) in the population with the recessive genotype (GG) at the rs231775 of the CTLA4 gene was higher than that in the dominant genotype (AA+AG) population ( P < 0.05). Conclusion:The CTLA4 gene rs231775 polymorphism is significantly related to AITD of Uygur in Xinjiang Uygur Autonomous Region, and the level of TgAb in GG genotype is higher than that in other genotypes.