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Objective:To investigate the mRNA level of adiponectin in patients with gallstone of Hui and Han nationality in Qinghai Province and its clinical significance.Methods:From August 2017 to August 2018, 108 patients with gallbladder cholelithiasis and 91 patients with other benign diseases who were hospitalized in the Affiliated Hospital of Qinghai University from August 2017 to August 2018 were selected as the research objects. According to gallbladder cholesterol stone and the classification criteria of adult obesity, they were divided into gallstone-obesity group (56 cases), gallstone non-obesity group (52 cases), non gallstone obesity group (48 cases) and non gallstone non obesity group (43 cases). The levels of serum lipid (TG), total cholesterol (TC), high density lipoprotein cholesterol (HDL-C), low density lipoprotein cholesterol (LDL-C), blood glucose (GLU), uric acid and high-sensitivity C protein (hs-CRP) were measured. Meanwhile, the adiponectin mRNA levels in omental adipose tissue and abdominal subcutaneous adipose tissue were detected by real time fluorescent quantitative polymerase chain reaction (qRT-PCR).Results:Compared with non gallstone and non obesity group, the serum TC [(4.57±0.49)mmol/L vs (5.63±0.53)mmol/L, (6.12±0.51)mmol/L, (6.85±0.43)mmol/L], TG [(1.50±0.32)mmol/L vs (2.06±0.33)mmol/L, (2.53±0.39)mmol/L, (2.96±0.34)mmol/L], LDL-C [(2.14±0.35)mmol/L vs (2.65±0.33)mmol/L, (3.05±0.37)mmol/L, (3.54±0.38)mmol/L], uric acid [(188.63±13.52)mmol/L vs (257.69±14.63)mmol/L, (306.96±18.96)mmol/L, (359.96±16.58)mmol/L], hs-CRP [(228.32±18.96)μmol/L vs (298.96±19.96)μmol/L, (354.96±19.96)μmol/L, (405.98±19.47)μmol/L] were increased in gallstone-obesity group, gallstone non-obesity group, non gallstone obesity group ( P<0.05), while the adiponectin mRNA [subcutaneous adipose tissue: (1.76±0.25) vs (1.43±0.23), (0.98±0.23), (0.68±0.29); omental adipose tissue: (2.15±0.29) vs (1.88±0.28), (1.56±0.27), (1.12±0.25)] and HDL-C levels [(2.15±0.11)mmol/L vs (1.79±0.15)mmol/L, (1.42±0.12)mmol/L, (1.15±0.09)mmol/L] were decreased ( P<0.05). Compared with the non gallstone obesity group, the serum levels of TC, TG, LDL-C, GLU, uric acid were increased in the gallstone non obesity group, gallstone obesity group, while the adiponectin mRNA and HDL-C levels were decreased ( P<0.05). Compared with the gallstone non obese group, the serum levels of TC, TG, LDL-C, GLU, uric acid and hs-CRP were increased in gallstone obese group, while the levels of adiponectin mRNA and HDL-C were decreased ( P<0.05). Adiponectin in omental adipose tissue and abdominal subcutaneous adipose tissue was positively correlated with HDL-C and negatively correlated with TC, TG, LDL-C, uric acid and hs-CRP ( P<0.05). Logistic regression analysis showed that low level of subcutaneous adiponectin, omental adiponectin and high level of TG were risk factors for gallstone in non obese population ( OR=2.340, 1.931, 2.784, P<0.05), while low level of subcutaneous adiponectin, omental adiponectin and high level of LDL-C were risk factors for gallstone in obese population ( OR=2.358, 2.596, 2.115, P<0.05). Conclusions:The adiponectin mRNA is decreased in the patients with gallstone of Hui/Han nationality in Qinghai Province. The low level of subcutaneous adiponectin and omental adiponectin are the risk factors for gallstone in obese or non obese people of Hui/Han nationality in Qinghai Province.
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<p><b>OBJECTIVE</b>To achieve early diagnosis for inheritable hearing loss and determine carrier rate of deafness causing gene mutations in order to provide information for premarital, prenatal and postnatal genetic counseling.</p><p><b>METHODS</b>A total of 17 000 dried heel blood spots of normal newborns in Chengdu were collected with informed consent obtained from their parents. Genomic DNA was extracted from dried blood spots using Qiagen DNA extraction kits. Microarrays with 9 common mutation loci of 4 deafness-associated genes in Chinese population were used. Nine hot mutations including GJB2 (35delG, 176del16, 235delC and 299delAT), GJB3 (538C> T), SLC26A4 (IVS 7-2A> G, 2168A> G), and mitochondrial DNA 12S rRNA (1555A> G, 1494C> T) were detected by PCR amplification and microarray hybridization. Mutations detected by microarray were verified by Sanger DNA sequencing.</p><p><b>RESULTS</b>Of the 17 000 new-borns, 542 neonates had mutations of the 4 genes. Heterozygous mutations of GJB2, at 235delC, 299delAT, and 176del16 were identified in 254, 55, and 15 newborns, respectively. Two newborns had homozygous mutation of GJB2, 235delC. Heterozygous mutations at 538C> T of GJB3, 2168A> G and IVS 7-2A> G of SLC26A4 were found in 23, 17 and 128 newborns, respectively. For mutation analysis of mitochondrial DNA 12S rRNA, 1494C> T and 1555A> G were homogeneous mutations in 4 and 42 neonates, respectively. In addition, 6 complexity mutations were detected, which demonstrated that one newborn had heterozygous mutations at GJB2 235delC and SLC26A4, IVS7-2A> G, one had heterozygous mutation GJB2 235delC and 12S rRNA homogeneous mutation, 1555 A> G, one heterozygous mutations at GJB2, 299delAT, and GJB3, 538C> T, one at GJB2, 299delAT and 12S rRNA, 1555 A> G, two at GJB2, 299delAT, and SLC26A4, IVS7-2A> G. All mutations as above were confirmed by DNA sequencing.</p><p><b>CONCLUSION</b>The total mutation carrier rate of the 4 deafness genes is 3.19% in healthy newborns at Chengdu. Mutations of GJB2 and SLAC26A4 are major ones (86.5% of total). The mutation rate of mitochondrial DNA 12S rRNA is 2.71‰, which may have deafness induced by aminoglycoside antibiotics. Newborn screening for mutation of genes related to hereditary deafness plays an important role in the early detection and proper management for neonatal deafness as well as genetic counseling for premarital, prenatal and postnatal diagnosis.</p>