GG Genotype at rs1275988 and rs2586886 Loci of TWIK-related Acid-sensitive K Channel-1 Gene is A Potential Risk Factor for Severe Obstructive Sleep Apnea / 中国医学科学院学报

To explore the mechanism of obstructive sleep apnea(OSA) by assessing the association between human TWIK-related acid-sensitive K channel-1(TASK-1) gene and OSA. A total of 164 patients with severe OSA and 171 patients without OSA were recruited from the Hypertension Center of People's Hospital of Xinjiang Uygur Autonomous Region,China,from April to December 2016.Two single nucleotide polymorphisms(rs1275988 and rs2586886) in the TASK-1 gene were selected and genotyped using a Kompetitive Allele Specific PCR genotyping system. In patients with blood potassium 3.95 mmol/L in patients with TASK-1 GG genotype may be conducive to reducing the incidence of severe OSA.

Genetic variants of rs1275988 and rs2586886 in TWIK-related acid-sensitive K+ channel-1 gene may be potential risk factors for obese patients with obstructive sleep apnea / 中华医学杂志(英文版)

BACKGROUND@#The pathogenesis of obstructive sleep apnea (OSA) remains not fully understood. This study aimed to explore the mechanism of OSA by assessing the association between the human tandem of P domains in a weak inwardly rectifying K channel (TWIK)-related acid-sensitive K channel-1 (TASK-1) gene and OSA.@*METHODS@#A total of 164 patients with severe OSA and 171 patients without OSA were recruited from the Center for Hypertension of People's Hospital of Xinjiang Uygur Autonomous Region (China) from April to December in 2016. Two single nucleotide polymorphisms (rs1275988 and rs2586886) in the TASK-1 gene were selected and genotyped using a kompetitive allele specific polymerase chain reaction genotyping system. Clinical-pathological characteristics and genotype data were compared between the severe and non-OSA groups to explore the association between TASK-1 gene polymorphism and severe OSA.@*RESULTS@#There were no significant differences in genotype distribution, allele frequency, and the recessive and dominant model of the two selected single nucleotide polymorphisms (rs1275988 and rs2586886) between the severe and non-OSA groups in the total population (P > 0.05). However, for patients with a body mass index (BMI) ≥28 kg/m, the distribution of genotypes and alleles, and the recessive model (GG + GA vs. AA) exhibited significant differences between the severe and non-OSA group (for genotypes: P = 0.014 and P = 0.026; for alleles: P = 0.006 and P = 0.011; for the recessive model: P = 0.005 and P = 0.009, respectively). The simple logistic regression analysis revealed that the GG genotype was a risk factor for OSA. The odds ratio (OR) and 95% confidence intervals (CI) were 4.902 (1.582-15.186, P = 0.006) for rs1275988 and 4.420 (1.422-13.734, P = 0.010) for rs2586886, respectively. In multivariate logistic regression analysis, the combination of GG genotypes of rs1275988 with BMI ≥28 kg/m increased the risk of severe OSA (OR = 8.916, 95% CI 4.506-17.645, P < 0.001).@*CONCLUSION@#Both the GG genotype of rs1275988 and GG genotype of rs2586886 in the TASK-1 gene may play as potential risk factors in obese patients with OSA.

Genetic variants of rs1275988 and rs2586886 in TWIK-related acidsensitive K+ channel-1 gene may be potential risk factors for obese patients with obstructive sleep apnea / 中华医学杂志(英文版)

Background@#The pathogenesis of obstructive sleep apnea (OSA) remains not fully understood. This study aimed to explore the mechanism of OSA by assessing the association between the human tandem of P domains in a weak inwardly rectifying K+ channel (TWIK)-related acid-sensitive K+ channel-1 (TASK-1) gene and OSA.@*Methods@#A total of 164 patients with severe OSA and 171 patients without OSA were recruited from the Center for Hypertension of People’s Hospital of Xinjiang Uygur Autonomous Region (China) from April to December in 2016. Two single nucleotide polymorphisms (rs1275988 and rs2586886) in the TASK-1 gene were selected and genotyped using a kompetitive allele specific polymerase chain reaction genotyping system. Clinical-pathological characteristics and genotype data were compared between the severe and non-OSA groups to explore the association between TASK-1 gene polymorphism and severe OSA.@*Results@#There were no significant differences in genotype distribution, allele frequency, and the recessive and dominant model of the two selected single nucleotide polymorphisms (rs1275988 and rs2586886) between the severe and non-OSA groups in the total population (P < 0.05). However, for patients with a body mass index (BMI) ≥28 kg/m2, the distribution of genotypes and alleles, and the recessive model (GG + GA vs. AA) exhibited significant differences between the severe and non-OSA group (for genotypes: P = 0.014 and P = 0.026; for alleles: P = 0.006 and P = 0.011; for the recessive model: P = 0.005 and P = 0.009, respectively). The simple logistic regression analysis revealed that the GG genotype was a risk factor for OSA. The odds ratio (OR) and 95% confidence intervals (CI) were 4.902 (1.582–15.186, P = 0.006) for rs1275988 and 4.420 (1.422–13.734, P = 0.010) for rs2586886, respectively. In multivariate logistic regression analysis, the combination of GG genotypes of rs1275988 with BMI ≥28 kg/m2 increased the risk of severe OSA (OR = 8.916, 95% CI 4.506–17.645, P < 0.001).@*Conclusion@#Both the GG genotype of rs1275988 and GG genotype of rs2586886 in the TASK-1 gene may play as potential risk factors in obese patients with OSA.

TWIK-related Acid Sensitive K Channels in the Regulation of Respiration and Sleep / 中国医学科学院学报

TWIK-related acid-sensitive K channel(TASK)is an important member of the two-pore-domain potassium channels family. It is widely expressed in the central nervous system and peripheral tissues and is extremely sensitive to hypoxia and pH changes in extracellular fluid. TASK participates in regulating the expression of respiratory center and the respiratory movement and also plays certain role in sleep regulation. This article reviews the recent advances in the roles of TASK in the regulation of respiration and sleep.

Association of interleukin-1β genetic polymorphisms with obstructive sleep apnea syndrome / 中国医学科学院学报

<p><b>OBJECTIVE</b>To investigate the association between interleukin (IL)-1β genetic polymorphisms and obstructive sleep apnea syndrome (OSAS).</p><p><b>METHODS</b>Totally 850 individuals with hypertension were included. All of them were checked by polysomnography in the Hypertension Center of People's Hospital of Xinjiang Uygur Autonomous Region from January to December in 2010. According to the results of polysomnography, these subjects were divided into non-OSAS group (n=225)and OSAS group (n=625). Genetic variations were sequenced and screened at loci over functional region of IL-1β gene in 96 patients with severe OSAS.The typical loci were selected for genotyping by TaqMan-polymerase chain reaction in 850 subjects.</p><p><b>RESULTS</b>One novel and 5 known variations in the IL-1β gene were identified, and then three representative mutation loci were selected for genotyping.The allele frequency distribution of rs1143633 was significantly different between the OSAS and non-OSAS groups in the total and male populations (χ(2)=9.258, P=0.002;χ(2)=5.119, P=0.024, respectively). Although the parameters of sleep apnea monitoring showed no significant difference in individuals with CC, CT, and TT genotypes of rs1143633 in total, male, and female populations (P>0.05), the median of the apnea hypopnea index of CT genotype was significantly higher than that of CC and TT in total and male populations and the mean of the lowest blood oxygen saturation increased in individuals with CC, CT, and TT genotypes of rs1143633 in total and male populations.Haplotype was no significantly associated with OSAS in total,male,and female populations(P>0.05).Logistic regression analysis showed that CT genotype of rs1143633 variation was a risk factor for OSAS in total and male populations (OR=1.574,95% CI=1.061-2.437,P=0.042;OR=1.887,95% CI=1.091- 3.265,P=0.023).</p><p><b>CONCLUSION</b>The rs1143633 polymorphism in IL-1β gene may be associated with OSAS.</p>

Relationship between genetic variation of furin gene and hypercholesterolemia and hyper-low-density lipoprotein cholesterolemia in Kazakh general population / 中国医学科学院学报

<p><b>OBJECTIVE</b>To investigate the relationship between the genetic variation of Furin gene and the hypercholesterolemia and hyper-low-density lipoprotein cholesterolemia in Kazakh general population.</p><p><b>METHODS</b>Based on a cross-sectional epidemiological study in a Kazakh general population, a case-control study including 878 subjects was conducted. All the sequence variant-located promoters and exon regions of Furin gene were identified by the direct sequencing of PCR products in 48 randomly selected hypercholesterolemic individuals (24 males and 24 females). After having genotyped the representative polymorphisms in 878 subjects by TaqMan PCR, we investigated the relationship between genetic variation of Furin and hypercholesterolemia/hyper-low-density lipoprotein cholesterolemia in these subjects.</p><p><b>RESULTS</b>Twelve genetic variations in Furin gene were identified by sequencing 48 hypercholesterolemic individuals and 4 common single nucleotide polymorphisms (rs6226, rs6227, rs2071410, and rs4932178)were selected as the representatives for genotyping in these subjects. The rs6226, rs6227, rs2071410, and rs4932178 polymorphisms were successfully genotyped. The distribution of the genotypes, alleles, and haplotypes of rs6226, rs6227, rs2071410, and rs4932178 polymorphisms did not differ significantly between the hypercholesterolemia group and the control groups or between the hyper-low-density lipoprotein cholesterolemia group and the control groups (all P>0.05). The cholesterol and low-density lipoprotein cholesterol levels did not differ significantly among individuals with different genotypes (all P>0.05).</p><p><b>CONCLUSION</b>The genetic variation of Furin may not be associated with hypercholesterolemia or hyper-low-density lipoprotein cholesterolemia in Kazakh general population.</p>

Association of glucose transporter 4 gene polymorphism with hypoxia caused by obstructive sleep apnea syndrome and with related inflammatory factors / 中国医学科学院学报

<p><b>OBJECTIVE</b>To investigate the relationship between genetic polymorphisms of glucose transporter 4 (GLUT4) and hypoxia caused by obstructive sleep apnea syndrome (OSAS) as well as with related inflammatory factors.</p><p><b>METHODS</b>Consecutive hypertension patients diagnosed at the People's Hospital of Xinjiang Uygur Autonomous Region were selected from January to December 2010. A total of 859 subjects with possible OSAS base on their histories and physical examination findings udner went the polysomnography and inflammatory factor determination, of whom 616 (72%) were diagnosed with moderate and severe hypoxia with OSAS (case group) and 243 (28%) without hypoxia or OASA (control group). Ninty-six patients from the case group underwent DNA sequencing at the functional domain of GLUT4 gene to screen for representative mutations. TaqMan PCR was used to genotyping then analyzed the relationship between locis of GLUT4 and hypoxia.</p><p><b>RESULTS</b>GLUT4 genome sequencing was performed in 96 severe OSAS patients and 4 mutated sites were found, among which 3 mutated sites (rs5415, rs4517, and rs5435) were selected according to the principle of linkage disequilibrium (r² > 0.8) and minimum gene allele frequency > 5%. All of single nucleotide polymorphisms (SNP) satisfied Hardy-Weinberg equilibrium (P>0.05). A significant association of GLUT4 SNP rs5417 allele carried in control subjects, compared with moderate and severe hypoxia in OSAS patients (P<0.05); AA+AC genotype relative to CC with low oxygen levels in subjects significantly reduced. The difference existed in overweight and obese patients, as well as in those aged more than 50 years (P<0.05). AA was still an independent protective factor for hypoxia caused by OSAS (OR=0.385, 95%CI = 0.210-0.704, P=0.002). Male (OR=1.635, 95% CI=1.037-2.577, P=0.034) and total cholesterol (OR=1.600, 95% CI=1.287-1.987, P<0.001) were independent risk factors associated with hypoxia. Normal weight(OR=0.059, 95% CI=0.037-0.094, P<0.001) and high density lipoprotein cholesterol (OR=0.337, 95% CI=0.171-0.666, P=0.002)were independent protective factors for hypoxia. The levels of monocyte chemoattractant protein-1 and C-reaction protein above CC were significantly higher than AA+AC (P<0.05).</p><p><b>CONCLUSION</b>Hypoxia caused by OSAS is associated with GLUT4 gene SNP rs5417.</p>

Relationship between female dyslipidemia and polymorphism of suppressor of cytokine signaling-3 in Xinjiang Uygur population / 中国医学科学院学报

<p><b>OBJECTIVE</b>To explore whether the polymorphism of suppressor of cytokine signaling-3 (SOCS-3) and dyslipidemia are correlated in Uygur females.</p><p><b>METHODS</b>A total of 1379 Uygur females from Xinjiang Uygur Autonomous Region were enrolled in this study. Three single nucleotide polymorphisms (SNPs), namely rs12953258, rs4969168, and rs9914220, were analyzed after being genotyped.</p><p><b>RESULTS</b>Of these three SNPs, the frequency distribution of rs12953258 sites was found to be significantly different between dyslipidemia group and normal group (P=0.032). The frequency distribution of rs12953258 sites between the high-density lipoprotein-cholesterol (HDL-C) abnormal group and normal group also showed significant difference (P=0.029). Logistic regression analysis showed that the genotype AA of rs12953258 was a risk factor for dyslipidemia among the Uygur females [CC vs. AA:OR=3.271,95%CI(1.092-9.797), P=0.034]. The genotype AA of rs12953258 might be related to the decreased high HDL-C and increased trigleceride, whereas the genotype AA coupled with abnormal body mass index (BMI) were more likely to be linked with the higher prevalence of dyslipidemia in Uygur females.</p><p><b>CONCLUSIONS</b>The polymorphism of SOCS-3 is correlated to the dyslipidemia in Uygur females in Xinjiang. Carriers of Genotype AA of rs12953258 coupled with abnormal BMI are more susceptible to dyslipidemia.</p>

Relationship between the G protein gated inward rectifier potassium channel 4 gene polymorphism and dyslipidemia of Uyghur residents / 中国医学科学院学报

<p><b>OBJECTIVE</b>To investigate the relationship between the G protein-gated inward rectifier K+ channel subunit 4 (GIRK4) gene polymorphism and the dyslipidemia among Uyghur residents in Xinjiang.</p><p><b>METHODS</b>The polymorphisms of rs2604204, rs4937391, rs6590357, and rs11221497 among the Uyghur residents were genotyped using Taqman polymerase chain reaction (PCR). Lipid levels were measured by conventional methods and were analyzed.</p><p><b>RESULTS</b>In the less-than-50-years population, the genotype distributions of the rs6590357 was statistically significant different in subjects with or without abnormal triglycerides (P=0.005). Aslo, the the genotype distributions of the rs11221497 also significantly differed in subjects with normal compared or abnormal TG (P=0.011). Logistic regression analysis suggested that rs6590357 still had positive association with TG abnormalities in subjects under 50 years (P=0.014). rs11221497 also had positive association with TC abnormalities. The TG levels of CT+TT genotypes were significantly higher than the CC group (P=0.006). Haplotype analysis found that the differences of H3 haplotype frequencies between the TG abnormal and normal groups were statistically significant (P=0.007).</p><p><b>CONCLUSION</b>The polymorphisms of rs11221497 and rs6590357 of GIRK4 gene may play a role in the development of dyslipidemia in Uygur population.</p>

Expression of GIRK4 gene in kidney tissues of obese rat / 中国医学科学院学报

<p><b>OBJECTIVE</b>To investigate the expression of GIRK4 gene in the kidney tissues of obese rats.</p><p><b>METHODS</b>Obese rat models were established using diet-induced method. The GIRK4 protein expression in kidney tissues was determined in 20 obese rats and 10 normal rats using Western blot analysis.</p><p><b>RESULTS</b>The relative expression level of GIRK4 protein in the kidney tissues of obese rat (1.75±0.42) was significantly lower than that in normal rats (3.37±0.68, P<0.05).</p><p><b>CONCLUSION</b>GIRK4 has a low protein expression in the kidney tissues of obese rat.</p>

Association of MK2 gene polymorphisms with low-density lipoprotein cholesterol and tumor necrosis factor-alpha in Uygur population from Hetian area of Xinjiang / 中国医学科学院学报

<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>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. All subjects underwent questionnaire-based survey, physical examination, measurement of lipid profiles and plasma TNF-Α determination.</p><p><b>RESULTS</b>Among the male subjects, the concentration of total cholesterol (TC) [TT vs. CT vs. CC: (4.35±1.20) mmol/L vs. (4.69±1.34) mmol/L vs. (4.83±1.44) mmol/L, P=0.033]and TNF-Α [TT vs.CT vs.CC: (106.63±62.39) ng/dL vs. (128.44±86.15) ng/dL vs. (153.06±82.99) ng/dL, P=0.001]were significantly different in 3 genotypes of 44890c/t. However, the LDL-C levels in TT, CT, and CC genotypes of 44890c/t were not different neither in males nor in females [males: (2.64±1.16) mmol/L vs. (2.81±1.28) mmol/L vs. (3.04±1.32) mmol/L, P>0.05; females: (2.42±1.11) mmol/L vs. (2.36±0.99) mmol/L vs. (2.43±1.05) mmol/L, P>0.05]. None of the allele and genotype frequencies of 44890c/tand rs 45514798 were different between high LDL-C group and control group. Linear regression analysis indicated that body mass index (BMI) (beta=0.089) and TNF-Α (beta=0.092) were significantly associated with LDL-C levels in males (P<0.05), while the age, BMI, and waist/hip ratio with LDL-C levels in females (P<0.05).</p><p><b>CONCLUSION</b>The nucleotide polymorphisms (44890c/t and rs 45514798) in MK2 gene may not be associated with LDL-C in both males and females in the Uygur population in Hetian, Xinjiang.</p>

Correlation between plasma aldosterone concentration and left ventricular structure in hypertensive patients / 中华心血管病杂志

<p><b>OBJECTIVE</b>To observe the correlation between plasma aldosterone concentration (PAC) and left ventricular structure in hypertensive patients.</p><p><b>METHODS</b>A total of 201 hypertensive patients [117 male, aged from seventeen to sixty eight years old, mean (43.6 ± 10.2) years] were included. All subjects underwent echocardiography examination for measurement of left ventricular end-diastolic dimension (LVEDD), LV posterior wall thickness (LVPWT), interventricular septum thickness (IVST) and LV mass index (LVMI). Plasma PAC was also measured at three postural positions. According to the sitting PAC, subjects were divided into high aldosterone group (PAC ≥ 120 ng/L, n = 83) and normal aldosterone (PAC < 120 ng/L, n = 118) group. Bivariate correlation and multiple stepwise regression analysis were performed to analyze the correlation between left ventricular structure parameters and PAC.</p><p><b>RESULTS</b>IVST, LVPWT values were significantly higher in the increased PAC group than that in normal PAC group [ (10.4 ± 1.0) mm vs. (10.9 ± 1.8) mm, (10.1 ± 0.7) mm vs.(10.4 ± 1.5) mm, all P < 0.05]. Bivariate correlation analysis showed that PAC was weakly correlated with IVST (r = 0.190, P < 0.05) , while was not correlated to LVMI, LVPWT and LVEDD (all P > 0.05). Multiple linear stepwise regression analysis showed that PAC was positively correlated with IVST and LVPWT (β = 0.206 and β = 0.241, respectively, all P < 0.05), but was not correlated to LVMI and LVEDD (all P > 0.05).</p><p><b>CONCLUSION</b>PAC is positively correlated with IVST and LVPWT in hypertensive patients.</p>

Analysis of influencing factors on circadian blood pressure of hypertensive patients with obstructive sleep apnea-hypopnea syndrome / 中华心血管病杂志

<p><b>OBJECTIVE</b>To investigate the effect of obesity, arousal, hypoxia and sympathetic activation on the circadian blood pressure of hypertensive patients with obstructive sleep apnea-hypopnea syndrome.</p><p><b>METHODS</b>Polysomnography (PSG) was performed in 436 hypertensive patients complaining of snoring, daytime sleepiness, lips cyanosis, hyperhemoglobinemia of unknown etiology, or with refractory hypertension. Hypertensive subjects were divided into four groups according to apnea-hypopnea index (AHI): hypertensive with mild obstructive sleep apnea-hypopnea syndrome (OSAHS) (n = 131), hypertensive with moderate OSAHS (n = 95), hypertensive with severe OSAHS (n = 95) and hypertensive without OSAHS as control group (n = 115). The ambulatory blood pressure monitoring (ABPM), PSG, urine electrolyte, and urine vanillylmandelic acid (VMA) were compared among groups. Factor analysis was employed to identify common factors related to the alterations of circadian blood pressure. Multiple linear regression analysis was used to analyze the influencing factors of the observed variables.</p><p><b>RESULTS</b>There were significant differences among groups in age, neck circumference and waist circumference(P < 0.001). In severe group, 24 hour average systolic blood pressure (24 hSBP)[ (137.0 ± 16.8) mm Hg vs.(131.3 ± 11.9)mm Hg, (131.3 ± 13.2)mm Hg (1 mm Hg = 0.133 kPa)], daytime systolic blood pressure (day-SBP) [(140.8 ± 16.8) mm Hg vs. (135.7 ± 11.9) mm Hg, (135.3 ± 13.5) mm Hg]and night systolic blood pressure (night-SBP)[ (130.9 ± 17.0) mm Hg vs.(124.5 ± 14.0 )mm Hg, (124.3 ± 13.2) mm Hg] were significantly higher than those of control or mild OSAS groups (P < 0.01). Factor analysis showed that body mass (BM), life style, urine electrolyte, age and course of disease (ACD) were the common factors influencing circadian blood pressure. OSAHS was correlated with declining percentage of SBP (β = -0.128, P < 0.01) and declining percentage of DBP (β = -0.126, P < 0.01). The contribution according to priority was ACD > OSAHS > BM for declining percentage of SBP (β = -0.148, P = 0.002;β = -0.128, P = 0.007;β = 0.099, P = 0.035), OSAHS > ACD > BM for declining percentage of DBP(β = -0.126, P = 0.008;β = -0.105, P = 0.026;β = 0.097, P = 0.042).</p><p><b>CONCLUSION</b>OSAHS, ACD and BM are the independent risk factors contributing to the alterations of circadian blood pressure in hypertensive patients with obstructive sleep apnea-hypopnea syndrome.</p>

Association study of PRDM16 gene polymorphisms with essential hypertension in Xinjiang Uygur population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the association of polymorphisms of PR domain containing 16 gene (PRDM16) with essential hypertension in ethnic Uygur population from Xinjiang, China.</p><p><b>METHODS</b>Functional regions of the PRDM16 gene were sequenced in 48 Uygur subjects with essential hypertension selected from 480 hypertensive patients and 819 normotensive controls. Representative variations were genotyped with TaqMan-PCR method. Association of variations of PRDM16 gene with hypertension was analyzed.</p><p><b>RESULTS</b>For the 4 genotyped representative variations (rs2236518, rs2282198, rs2493292 and rs870171), no significant difference in genotype distribution and allele frequencies has been found between the patient and control groups (P>0.05). By ANOVA analysis, none of the polymorphisms was significantly associated with systolic or diastolic blood pressure (P>0.05). Nor was significant difference in haplotypic frequencies between the two groups detected (P>0.05).</p><p><b>CONCLUSION</b>We have found no association between the four polymorphisms (rs2236518, rs2282198, rs2493292 and rs870171) of the PRDM16 gene with essential hypertension in ethnic Uygur population from Xinjiang.</p>

Association between sequence variation of Furin gene and obesity in ethnic Kazakh from Xinjiang / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the association between sequence variation of Furin gene and obesity in ethnic Kazakh population in Xinjiang region.</p><p><b>METHODS</b>Based on a cross-sectional epidemiological study, a case-control study was conducted. All sequence variants located promoter and exon regions of Furin gene were identified with direct sequencing of PCR products from 66 randomly chosen obese individuals (33 males and 33 females). Polymorphisms representative of a general ethnic Kazakh population (856 subjects, including 364 males and 492 females, 478 from obesity group and 378 from control group) were determined by TaqMan PCR, the association between sequence variation of Furin gene and obesity was assessed.</p><p><b>RESULTS</b>Twelve sequence variations in Furin gene were identified through sequencing of 66 obese individuals. And 4 common SNPs (rs6226, rs6227, rs2071410 and rs4932178) were selected as representative polymorphisms for the general Kazakh population. Above polymorphisms were successfully typed in all subjects. Distribution of the genotypes, alleles, and haplotypes formed by such polymorphisms did not differ significantly between the case and control groups or males and females (P>0.05). The waist circumference also did not differ significantly among individuals with different genotypes (P>0.05).</p><p><b>CONCLUSION</b>Genetic variations of Furin gene are not associated with obesity in Kazakh general population.</p>

Research advances in suppressor of cytokine signaling 3 / 中国医学科学院学报

Suppressor of cytokine signaling(SOCS) 3, a novel type of cytokine signal transduction inhibitory molecules in family of SOCS, is mainly involved in Janus protein tyrosine kinase/signal transducer andantivator of transcription signaling pathway negative feedback regulation. It is involved in inflammation, oxidative stress, cell damage, and apoptosis. Meanwhile, it is closely related to atherosclerosis, obesity, glucose metabolism, insulin resistance, leptin, cancer, asthma, and rheumatic diseases. Therefore, SOCS-3 may become a therapeutic target of these diseases.

Impact of body mass index on incidence of obstructive sleep apnea-hypopnea syndrome in hospitalized hypertensive patients / 中华心血管病杂志

<p><b>OBJECTIVE</b>To investigate the impact of obesity on incidence of obstructive sleep apnea-hypopnea syndrome (OSAHS) in hospitalized hypertensive patients.</p><p><b>METHODS</b>A total of 825 hospitalized hypertensive patients from April 1 to June 30 in 2009 in our hospital were included. Patients were asked to answer the questions concerning snoring, daytime sleepiness. Patients with loud snoring and daytime sleepiness, tubbiness neck, retrognathia, enlarged tongue, orolingual cyanosis were selected to undergo polysomnography monitoring for a whole night. OSAHS is defined by clinical symptoms and apnea-hypopnea index (AHI) not less than 5 per hour.</p><p><b>RESULTS</b>(1) The detection rate of OSAHS in this cohort was 23.52% (178/825), 34.34% (148/431) in males and 11.68% (46/394) in females respectively. (2) The detection rate was 6.6% (12/183) in normal weight subjects, 22.22% (78/351) in overweight subjects and 36.75% (104/283) in obesity subjects (χ(2) = 56.736, P < 0.01). The severe OSAHS rate in obesity group (16.61%) was significantly higher than that in normal weight group (2.19%) and overweight group (7.69%, χ(2) = 29.219, P < 0.01). (3) The OSAHS rate was 7.83% (9/115) in normal waist circumference group and 26.29% (184/700) in centricity obesity group (χ(2) = 18.623, P < 0.01). The severe OSAHS rate was 2.61% (3/115) in normal waist circumference group and 10.57% (74/700) in centricity obesity (χ(2) = 7.32, P < 0.01). (4) The moderate to severe OSAHS rate increased in proportion with BMI increase in female patients (χ(2) = 5.846, P < 0.05) and increased in proportion with BMI and waist circumference increase in male patients (P < 0.01).</p><p><b>CONCLUSIONS</b>The incidence of OSAHS in hypertensive patients is high. Obesity further increases the morbidity of OSAHS in hypertensive patients.</p>

Relationship between genetic variation of furin and insulin resistance in Chinese Kazakh population / 中华心血管病杂志

<p><b>OBJECTIVE</b>To investigate the relationship between genetic variation of Furin and insulin resistance in Chinese Kazakh population.</p><p><b>METHODS</b>Based on a cross-sectional epidemiological study in a Chinese Kazakh population, a case-control study was conducted. All the sequence variants located promoter and exon regions of Furin were identified by directly sequencing of PCR product in 50 (25 males) individuals with insulin resistance, which were randomly chosen from the study population. The representative polymorphism was detected by TaqMan PCR in 861 subjects (366 males, 254 in case group and 607 in control group). The relationship between genetic variation of Furin and insulin resistance in this cohort was analyzed.</p><p><b>RESULTS</b>Twelve genetic variations in Furin were identified by sequencing 50 individuals with insulin resistance and 4 common SNPs (rs6226, rs6227, rs2071410, and rs4932178) were selected as representatives for genotyping in this Chinese Kazakh population. The rs6226, rs6227, rs2071410, and rs4932178 polymorphisms were successfully genotyped. The distribution of the genotypes of rs6226, rs6227, rs2071410, and rs4932178 polymorphism was similar between case and controls (all P > 0.05). The homeostasis model assessment for insulin resistance (HOMA-IR) levels was also similar among individuals with different genotypes (all P > 0.05).</p><p><b>CONCLUSION</b>The genetic variation of Furin is not associated with insulin resistance in this cohort of Chinese Kazakh population.</p>

Association between genetic polymorphism of the six-transmembrane protein of prostate 2 and obesity in Uygur / 中华心血管病杂志

<p><b>OBJECTIVE</b>To investigate the association between genetic variations of the six transmembrane protein of prostate 2 (STAMP2) and obesity in Xinjiang Uygur population.</p><p><b>METHODS</b>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. The representative variations selected were genotyped by TaqMan-PCR method.</p><p><b>RESULTS</b>Twenty genetic variations, including 14 novel variations, were identified. The genotype distributions of the control group and obesity group were in the Hardy-Weinberg equilibrium (both P > 0.05). The frequency of AA of rs1981529 (67.6% vs. 62.8%, P < 0.05) and the frequency of G-A-G haplotype (62.4% vs. 58.9%, P < 0.05) in obesity group were significantly higher than that in controls while the frequency of A-G-G haplotype was significantly lower in the obesity patients than that in the control group (17% vs. 20%, P < 0.05). After adjusting age, sex, smoking and drinking, logistic regression analysis showed that the AA genotype of rs1981529 (OR: 1.276, 95%CI: 1.049 - 1.552; P < 0.05) and the G-A-G haplotype (OR: 1.356, 95%CI: 1.007 - 1.862, P < 0.05) were the independent risk factors for obesity in this cohort.</p><p><b>CONCLUSION</b>The AA genotype of rs1981529 and G-A-G haplotype are associated with obesity in Uygur population of Xinjiang.</p>

Advances in research on G protein-coupled inward rectifier K(+) channel gene / 中国医学科学院学报

G protein-coupled inward rectifier K(+) channel 4(GIRK4) is a G protein-coupled inward rectifier potassium channel family member. Encoded by the KCNJ5, it is widely distributed in the mammalian heart, brain, and other tissues and organs. Recent studies have demonstrated that the abnormal expression of GIRK4 gene is associated with atrial fibrillation, and meanwhile may be closely related to obesity, metabolic syndrome, and many other clinical conditions. Further research on the role the GIRK4 gene in the pathophysiology of these clinical conditions will definitely facilitate their clinical diagnosis and treatment.