Objective To investigate the distribution of single nucleotide polymorphisms (SNPs)in CAPN10 gene in Chinese population and their relation with type 2 diabetes mellitus inHan people of Northern China. Methods CA...Objective To investigate the distribution of single nucleotide polymorphisms (SNPs)in CAPN10 gene in Chinese population and their relation with type 2 diabetes mellitus inHan people of Northern China. Methods CAPN10 gene was sequenced to detect SNPs indifferent nationalities of China. Five SNPs were chosen to perform case-control study andhaplotype analysis in 156 normal Han people of Northern China and 173 type 2 diabetes. OneSNP was also analyzed with transmission-disequilibrium test (TDT) and sib transmission-disequilibrium test (STDT) in 68 type 2 diabetes pedigrees (377 people). Results A totalof 40 SNPs were identified in length of 8 936bp, with an average of 1 in every 223bp. TheSNPs in CAPN10 gene did not distribute evenly and the SNPs in Chinese were different fromthose reported in Mexican American. There was no significantly statistical difference in theallele frequency of the 5 SNPs between case and control, and the haplotype frequencies inthe two groups were not significantly different. No positive results was found in TDT andSTDT analysis. Conclusions The SNP distribution of CAPN10 gene differs in differentnationalities. The studied SNPs in CAPN10 gene may not be the major susceptibility onesof type 2 diabetes mellitus in Han people of Northern China.展开更多
Neurological disorders comprise a variety of complex diseases in the central nervous system, which can be roughly classified as neurodegenerative diseases and psychiatric disorders. The basic and translational researc...Neurological disorders comprise a variety of complex diseases in the central nervous system, which can be roughly classified as neurodegenerative diseases and psychiatric disorders. The basic and translational research of neurological disorders has been hindered by the difficulty in accessing the pathological center （i.e., the brain） in live patients. The rapid advancement of sequencing and array technologies has made it possible to investigate the disease mechanism and biomarkers from a systems perspective. In this review, recent progresses in the discovery of novel risk genes, treatment targets and peripheral biomarkers employing genomic technologies will be dis- cussed. Our major focus will be on two of the most heavily investigated neurological disorders, namely Alzheimer＇s disease and autism spectrum disorder.展开更多
基金the National Natural Science Foundation (Grant No. 30170441,39896200)863 High Tech Project (Grant No. 2001AA221161)+2 种基金 National 973 Project (Grant No.G1998051016) Beijing Natural Science Fund (Grant No. 7002026)the National High EducationSci
文摘Objective To investigate the distribution of single nucleotide polymorphisms (SNPs)in CAPN10 gene in Chinese population and their relation with type 2 diabetes mellitus inHan people of Northern China. Methods CAPN10 gene was sequenced to detect SNPs indifferent nationalities of China. Five SNPs were chosen to perform case-control study andhaplotype analysis in 156 normal Han people of Northern China and 173 type 2 diabetes. OneSNP was also analyzed with transmission-disequilibrium test (TDT) and sib transmission-disequilibrium test (STDT) in 68 type 2 diabetes pedigrees (377 people). Results A totalof 40 SNPs were identified in length of 8 936bp, with an average of 1 in every 223bp. TheSNPs in CAPN10 gene did not distribute evenly and the SNPs in Chinese were different fromthose reported in Mexican American. There was no significantly statistical difference in theallele frequency of the 5 SNPs between case and control, and the haplotype frequencies inthe two groups were not significantly different. No positive results was found in TDT andSTDT analysis. Conclusions The SNP distribution of CAPN10 gene differs in differentnationalities. The studied SNPs in CAPN10 gene may not be the major susceptibility onesof type 2 diabetes mellitus in Han people of Northern China.
基金supported by the grant from the National Basic Research Program of China (973 Program, Grant No. 2014CB964901) awarded to HL from the Ministry of Science and Technology of China
文摘Neurological disorders comprise a variety of complex diseases in the central nervous system, which can be roughly classified as neurodegenerative diseases and psychiatric disorders. The basic and translational research of neurological disorders has been hindered by the difficulty in accessing the pathological center （i.e., the brain） in live patients. The rapid advancement of sequencing and array technologies has made it possible to investigate the disease mechanism and biomarkers from a systems perspective. In this review, recent progresses in the discovery of novel risk genes, treatment targets and peripheral biomarkers employing genomic technologies will be dis- cussed. Our major focus will be on two of the most heavily investigated neurological disorders, namely Alzheimer＇s disease and autism spectrum disorder.
