Multiple Gene Polymorphisms Associated with Exfoliation Syndrome in the Uygur Population.

BACKGROUND: Our previous data suggested that three single-nucleotide polymorphisms (SNPs), rs1048661, rs3825942, and rs2165241, of the lysyl oxidase-like 1 gene (LOXL1) are significantly associated with exfoliation syndrome (XFS) and exfoliation glaucoma (XFG). The following study investigated other SNPs that potentially effect XFS/XFG. METHODS: A total of 216 Uygur patients diagnosed with XFS/XFG, and 297 Uygur volunteers were admitted to the First Affiliated Hospital at Xinjiang Medical University between January 2015 and October 2017. Blood samples were collected by venipuncture. Alleles and genotypes of LOXL1, TBC1D21, ATXN2, APOE, CLU, AFAP1, TXNRD2, CACNA1A, ABCA1, GAS7, and CNTNAP2 were analyzed by direct sequencing. RESULTS: The allele G of rs41435250 of LOXL1 was a risk allele for XFS/XFG (P < 0.001), whereas the allele G of rs893818 of LOXL1 was a protective allele for XFS/XFG (P < 0.001). After adjusting all data for age and gender, the following results were obtained: the frequency of genotype CC for rs7137828 of ATXN2 was significantly higher in XFS/XFG patients than in controls (P = 0.027), while no significance was found with reference to the frequency of genotype TT. The frequency of genotype GG for rs893818 of LOXL1 (P < 0.001) and the frequency of genotype AA were both significantly higher in XFS/XFG groups compared to the control group (P < 0.001). In addition, the frequency of genotype TT for rs41435250 of LOXL1 was higher in XFS/XFG patients than in controls (P = 0.003), while no significant difference was found with reference to the frequency of genotype GG after adjusting for age and gender. In addition, the haplotypes G-A/T-G/G-G for rs41435250 and rs893818 were significantly associated with XFS/G. CONCLUSIONS: With reference to LOXL1, the rs41435250 resulted as a risk factor and rs893818 as a protective factor for XFS/XFG in the Uygur populations. Meanwhile, the rs16958445 of TBC1D21 and the rs7137828 of ATXN2 have also shown to be associated with pathogenesis of XFS/XFG.

[Secretion and action of insulin among Han and Uygur subjects with impaired fasting glucose and impaired glucose tolerance from Xinjiang].

OBJECTIVE: To compare insulin secretion and action with impaired fasting glucose (IFG), impaired glucose tolerance (IGT) and combined glucose intolerance (CGI, IFG and IGT) between Han and Uygur populations living in Xinjiang. METHODS: A multicenter cross-section survey (The Third Diabetes Epidemiological Survey in China) was conducted in Xinjiang from 2007 to 2008 including 2203 subjects (Han 1118, Uygur 1085) underwent an oral glucose test (OGTT). Homeostasis model assessment on insulin resistance (HOMA-IR) and ß cell function (HOMA-ß) were calculated. The ratio of incremental insulin (ΔI30) and glucose (ΔG30) response was used to evaluate the early insulin secretion. ΔI30/ΔG30/HOMA-IR was used to evaluate the glucose disposition index (DI). RESULTS: There were differences noticed regarding the waist circumstances (WC), body mass index (BMI), lipids, 0 and 120 min insulin levels in different glucose tolerance status between the Hans and Uygurs. Data related to NGT, IFG, CGI, WC from the Uygurs was significantly different from that of the Hans (P < 0.01), while the NGT, IFG, IGT and 120-minute plasma insulin levels of the Hans were significantly different from that of the Uygurs (P < 0.01). HOMA-IR and HOMA-ß in Hans were significantly different from those of the Uygurs (P < 0.01). There were significant differences noticed on data related to ΔI30/ΔG30, and DI among the two populations with different ethnicities. CONCLUSION: Regarding the regulation of impaired glucose, the insulin resistance among the Hans was significantly different from that of the Uygurs, while there seemed to be a compensatory secretion of pancreatic ß cells which played the role of maintaining blood glucose homeostasis.

[Sonographical features of the epididymis tuberculosis with caseous necrosis].

OBJECTIVE: To analyse sonographical features of epididymis tuberculosis with caseous necrosis and improve the accuracy of ultrasonic diagnosis. METHODS: Ultrasonic features of 12 cases with epididymis tuberculosis with caseous necrosis, confirmed by surgical pathology, was retrospectively analysed: size, location, echogenicity, degree of blood flow in the lesion. RESULTS: In all 12 patients, the number of purified protein derivative test (PPD) presenting the positive reached to 67%, while cases with the pulmonary tuberculosis was 42%. The epididymal tuberculosis with caseous necrosis could present images of the whole or focal epididymal enlargement and abnormal shape. The lesions internal echoes were irregular, inhomogeneous increased isoechoic echogenicity or hypoechoic, including bad-defined, irregular, homogeneous hypoechoic or anechoic. In lesional location, 4 out of 12 patients (33%) possessed richly color blood flow in Color Doppler Power Imaging(CDPI). The testicular enlargement with increased internal echoes and the testicular hydroceles were partly (58%, 7/12) observed by ultrasound. There was no varicocele, scrotal wall thickening and inguinal lymph node enlargement. CONCLUSION: The High Frequency Color Doppler images is helpful for the diagnosis and differential diagnosis of epididymis tuberculosis with caseous necrosis.