Non-Classical 21-Hydroxylase Deficiency: Analysis of a Mutant Gene in a Uyghur Family and Literature Review.

Objective: The gene mutation and clinical characteristics of a patient with non-classical 21-hydroxylase deficiency and his family were analyzed.

Methods: A patient was diagnosed with non-classical 21-hydroxylase deficiency in the Department of Endocrinology of People's Hospital of Xinjiang Uygur Autonomous Region in December 2016. The clinical data and related gene-sequencing results were analyzed.

[Association of MK2 gene polymorphisms with low-density lipoprotein cholesterol and tumor necrosis factor-alpha in Uygur population from Hetian area of Xinjiang].

Objective: To investigate the association of MK2 gene with low density lipoprotein cholesterol (LDL-C) and tumor necrosis factor-alpha (TNF-Α) between different gender in Xinjiang Uygur population.

Methods: A total of 350 Uygur males and 595 females were recruited randomly from Hetian area. Two single nucleotide polymorphisms (44890c/t, rs 45514798) in MK2 gene were selected and genotyped by Taqman-PCR in these subjects.

[Association between genetic polymorphism of the six-transmembrane protein of prostate 2 and obesity in Uygur].

Objective: To investigate the association between genetic variations of the six transmembrane protein of prostate 2 (STAMP2) and obesity in Xinjiang Uygur population.

Methods: A total of 2332 Uygur subjects (1455 obesity and 877 non-obesity control subjects) were included in this case-control study based on epidemiological survey. Genetic variations of STAMP2 gene functional region were sequenced.

Genetic polymorphism of six transmembrane protein of prostate 2 associated with diabetes mellitus in Xinjiang Uygur population.

Objective: To investigate the association between the genetic variations of six transmembrane protein of prostate 2 (STAMP2) with type 2 diabetes mellitus (T2DM) in Xinjiang Uygur population.

Methods: A case-control study was conducted based on epidemiological investigation. A total of 1838 Uygur subjects were selected and divided into two groups: T2DM group (n=274) and control group (n=1564).

A common variation within the STEAP4 gene exons is associated with obesity in Uygur general population.

Background: Coordinated regulation of nutrient and inflammatory responses by six transmembrane epithelial antigen of prostate 4 (STEAP4) was essential for metabolic homeostasis. STEAP4 expression in human white adipose tissue was associated with obesity. This study aimed to evaluate association between STEAP4 genetic polymorphisms and obesity in Uygur Chinese general population.

[Epidemiological survey of lipid levels and factors in Kazakan people over 30-year old in Fukang of Xinjiang].

Objective: To study the lipids level in Kazakan individuals over 30-year-old in Fukang area of Xinjiang.

Methods: Random cluster multistage sampling method were performed to select the subjects, and 991 individuals aged older than 30 from Fukang of Xinjiang were included. The plasma total cholesterol (TC), triglyceride (TG), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), plasma glucose and insulin were measured.

Association of STEAP4 genetic polymorphisms with insulin resistance in Uygur Chinese general population.

Objective: To explore the relationship between six-transmembrane epithelial antigen of prostate 4 (STEAP4) genetic polymorphisms and insulin resistance (IR) in Uygur Chinese general population.

Methods: In this cross-sectional study on the metabolic diseases (e.g.

[Association of the genetic variations of bone morphogenetic protein 7 gene with diabetes and insulin resistance in Xinjiang Uygur population].

Objective: To investigate the association between the genetic variations of the functional region in bone morphogenetic protein gene (BMP7) with type 2 diabetes mellitus in Chinese Uygur individuals.

Methods: A case-control study was conducted based on epidemiological investigation. A total of 717 Uygur subjects (276 males and 441 females) were selected and divided into two groups: diabetes mellitus group (n = 502, 191 males and 311 females) and control group (n = 215, 85 males and 130 females).

[Genetic variations of bone morphogenetic protein 7 gene are associated with hypertriglyceridemia of Uygur Chinese in Xinjiang].

Objective: To analyze the association between the genetic variations of functional region in bone morphogenetic protein (BMP7) gene and dyslipidemia in Chinese Uygur individuals.

Methods: The case-control study was conducted in 1514 Uygur Chinese based on epidemiological investigation. The all exons, segmental introns and the promoter regions of BMP7 gene were sequenced in 48 out of 1514 Uygur Chinese.

[Genetic variation and association of STEAP4 gene with metabolic syndrome in Chinese Uygur patients].

Objective: To investigate the genetic variations of the six transmembrane epithelial antigen of prostate 4 gene (STEAP4) in Chinese Uygur patients with metabolic syndrome (MetS) and to analyze the association of the representative genetic variations of STEAP4 gene with MetS in the population.

Methods: The sequences of STEAP4 gene functional region (all exons, exon-intron boundaries and the putative promoter region, including the -1 kb 5'and 3'untranslated regions) were amplified and sequenced for patients with MetS. The representative variations were selected based on the function (missense mutation) and linkage disequilibrxium (γ² > 0.

[Negative association of STAMP2 gene polymorphisms with essential hypertension in Xinjiang Uygur population].

Objective: To investigate the relationship between the genetic polymorphisms of the six transmembrane protein of prostate 2 gene (STAMP2) and essential hypertension in Xinjiang Uygur population.

Methods: The sequences of STAMP2 gene functional region were sequenced in Xinjiang Uygur population with hypertension. The representative variations selected were genotyped by TaqMan-PCR method in 2047 Uygur individuals, including 810 patients with hypertension and 1237 healthy subjects.

Association of genetic variations of regulator of G-protein signaling 2 with hypertension in the general Xinjiang Kazakh population.

Mice deficiency in regulator of G-protein signaling 2(RGS2) showed an evident hypertension phenotype. Here, we studied associations of genetic variations of RGS2 with essential hypertension in the Kazakh population. Two identified nonsynonymous mutations (K18N, Y178C) were not specific for hypertension.

[Analysis on vascular risk factors accompanied with high-normal blood pressure among Uygur, Kazak, Mongolian and Han populations in Boertala region of Xinjiang, China.].

Objective: To study the prevalence and distribution of high-normal blood pressure (BP) and the prevalence rates of risk factors related to cardiovascular diseases (CVD) among Uygur, Kazak, Mongolian and Han populations in Boertala Mongol Autonomous Prefecture of Xinjiang.

Methods: 4325 Subjects, with numbers of Uygur, Kazak, Mongolian, Han ethnicities as 1247, 1047, 817, 1214 cases, respectively and aged 20 - 79 years, were selected from the cross-sectional study on hypertension in Boertala Mongol Autonomous Prefecture of Xinjiang. The prevalence rates of related risk factors on CVD were analyzed among multiethnic populations with high-normal BP.

[Distribution of genetic variation of neural precursor cell expressed developmentally down-regulated 4 gene in Kazak Chinese and its association with hypertension].

Objective: To analyze the association between the genetic variations of functional region in neural precursor cell expressed developmentally down-regulated 4 ( NEDD4) gene and hypertension in Kazak Chinese in Xinjiang Uygur Autonomous Region.

Methods: The sequences of NEDD4 gene functional region (all exons, exon-intron boundaries, and the putative promoter region, including the 5'- and 3'-untranslated regions 1 kb) were sequenced in Kazak Chinese patients with hypertension. The representative variations selected were genotyped by TaqMan-PCR method in 938 Kazak individuals, including 451 hypertensive patients and 487 normotensive subjects.

[A cross-sectional study on snoring in Boertala Mongolia Autonomous Prefecture].

Objective: To investigate the incidence and risk factors of snoring in Boertala Mongolia Autonomous Prefecture of Xinjiang.

Methods: A random sample of 4444 people, aged > or = 30, from Mongolian, Kazakh, Uygur, and Han population in Boertala Mongolia Autonomous Prefecture was investigated for the presence of snoring and the risk factors.

Results: The incidence of snoring was 21.