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Objective: To analyze the association of the genetic variations of rs2383206 and rs2383207 in 9p21 region with the coronary heart disease (CHD) in the Chinese Han population, and to explore whether chromosome 9p21 is a susceptibility region for CHD. Methods: Case-control study was conducted. A total of 580 CHD patients were selected as case group, and 539 cases of non-cardiovascular disease patients or normal people with matched age and sex were selected as control group. The rs2383206 and rs2383207 loci of the subjects were genotyped with Sequenom Mass ARRAY time of flight mass spectrometer (TOF). Results: The smoking, waist-to-hip ratio (WHR), hypertension, diabetes mellitus, systolic blood pressure (SBP), diastolic blood pressure (DBP) and total cholesterol (TC of the subjects in two groups were statistically different (P0. 05), while the genotypic distribution of rs2383207 was statistically different (X2 =8. 936, P<0. 05); the distribution frequency of AA genotype in case group (8. 3%) was significantly lower than that in control group (13.6%) (P<0. 05). Conclusion: Smoking, WHR, hypertension, diabetes mellitus, SBP, DBP and TC may be the risk factors for CHD; the AA genotype of 9p21 rs2383207 loci may be the protective genotype of CHD.
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Objective:To analyze the association of the genetic variations of rs2383206 and rs2383207 in 9p21region with the coronary heart disease (CHD) in the Chinese Han population,and to explore whether chromosome 9p21 is a susceptibility region for CHD.Methods:Case-control study was conducted.A total of 580 CHD patients were selected as case group,and 539 cases of non-cardiovascular disease patients or normal people with matched age and sex were selected as control group.The rs2383206 and rs2383207 loci of the subjects were genotyped with Sequenom MassARRAY time of flight mass spectrometer (TOF).Results:The smoking,waist-to-hip ratio (WHR),hypertension,diabetes mellitus,systolic blood pressure (SBP),diastolic blood pressure (DBP) and total cholesterol (TC) of the subjects in two groups were statistically different (P＜0.05).Compared with control group,the ratios of patients with smoking,hypertension and diabetes mellitus of the patients in case group were increased (P＜0.05);the WHR,SBP,DBP and TC level were also increased (P＜0.05).There was no significant difference in the genotypic distribution of rs2383206 between case group and control group (x2 =4.623,P＞0.05),while the genotypic distribution of rs2383207 was statistically different (x2 =8.936,P＜0.05);the distribution frequency of AA genotype in case group (8.3％) was significantly lower than that in control group (13.6％) (P＜0.05).Conclusion:Smoking,WHR,hypertension,diabetes mellitus,SBP,DBP and TC may be the risk factors for CHD;the AA genotype of 9p21 rs2383207 loci may be the protective genotype of CHD.
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Objective To investigate the relationship between 9p21 single nucleotide polymorphism (SNP) and myocardial infarction(MI) in Yunnan Yi nationality. Methods One hundred and ten patients with MI and 110 controls were enrolled. DNA sequencing was used to detect 9p21 gene locus and SNP typing and analysis. Results Hardy-Weinberg equilibrium was found in 9 sites of chromosome 9p21 in myocardial infarction group and control group.The frequency of rs1333049 GG genotype was 30.91% and 18.18% in case group and control group respectively, G The frequencies of rs2383206 GG genotype were 31.82% and 18.18%, respectively, and the frequencies of G allele were 55.3% and 41.1%, respectively. There were significant differences between the two groups 58.3% and 44.9%, The difference between the two groups was statistically significant(P<0.05). Conclusion This study demonstrates an association of rs1333049 polymorphism locus on chromosome 9p21 with risk for MI in in Yunnan Yi nationality.
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Trisomy 9p syndrome was first described by Rethore, et al in 1970 and about 150 cases have been reported. Trisomy 9p has been reported as either partial or complete. The term "duplication 9p syndrome" instead of "trisomy 9p syndrome" is used since most of the reported patients had only partial duplication rather than the whole arm duplication of 9p. Duplication of 9p syndrome is characterized by growth and developmental retardation, microbrachycephaly, deep and wide set eyes with down-slanting palpebral fissures, "globular" nose, down-turned corners of the mouth, prominent apparently low-set ears, and short fingers and toes with small nails. A 10- month-old male was referred to our department of pediatrics because of hypotonia and delayed development. Karyotype revealed 46, XY, dup(9)(p12p24) by GTC-Banding. We report a case of a duplication 9p syndrome diagnosed by GTC-banding.