BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a progressive degenerative disease characterized by the loss of motor neurons in the spinal cord, brainstem, and cerebral cortex, which results in muscle weakness, atrophy. Sporadic ALS (SALS) accounts for about 90% of ALS cases, but the etiology is largely unknown. Most of the researchers consider it to be a complex disease. There have been several genome-wide association (GWA) studies reporting several single nucleotide polymorphisms (SNPs) which are susceptible to ALS, but no data of Asians (including Chinese) yet. We investigate whether the polymorphism of rs10260404 in DPP6 gene is associated with SALS in Chinese Han origin to compare the ethnic differences between Chinese Han origin and other populations. METHODS: The genomic DNA was extracted from the leukocytes of whole blood samples in 58 Chinese Han patients with SALS and 52 healthy controls. The asymmetric PCR was processed in the presence of an unlabeled probe that contained the rs10260404 locus. The product was genotyped on a light scanner using high resolution melting method and some were confirmed with sequencing. RESULTS: The rs10260404 polymorphism was in Hardy-Weinberg equilibrium in patients and controls. The CC genotype and the C allele were similar in patients compared with healthy subjects and not associated with an increased risk of Chinese SALS patients (chi(2) = 0.29, OR = 1.26, 95% CI 0.55 - 2.87, P > 0.05). CONCLUSIONS: The rs10260404 is not associated with ALS susceptibility in Chinese people with Han origin which may be due to ethnic differences. More study with large number of cases in Chinese population is really necessary.
BACKGROUND:Amyotrophic lateral sclerosis (ALS) is a progressive degenerative disease characterized by the loss of motor neurons in the spinal cord, brainstem, and cerebral cortex, which results in muscle weakness, atrophy. Sporadic ALS (SALS) accounts for about 90% of ALS cases, but the etiology is largely unknown. Most of the researchers consider it to be a complex disease. There have been several genome-wide association (GWA) studies reporting several single nucleotide polymorphisms (SNPs) which are susceptible to ALS, but no data of Asians (including Chinese) yet. We investigate whether the polymorphism of rs10260404 in DPP6 gene is associated with SALS in Chinese Han origin to compare the ethnic differences between Chinese Han origin and other populations. METHODS: The genomic DNA was extracted from the leukocytes of whole blood samples in 58 Chinese Han patients with SALS and 52 healthy controls. The asymmetric PCR was processed in the presence of an unlabeled probe that contained the rs10260404 locus. The product was genotyped on a light scanner using high resolution melting method and some were confirmed with sequencing. RESULTS: The rs10260404 polymorphism was in Hardy-Weinberg equilibrium in patients and controls. The CC genotype and the C allele were similar in patients compared with healthy subjects and not associated with an increased risk of Chinese SALSpatients (chi(2) = 0.29, OR = 1.26, 95% CI 0.55 - 2.87, P > 0.05). CONCLUSIONS: The rs10260404 is not associated with ALS susceptibility in Chinese people with Han origin which may be due to ethnic differences. More study with large number of cases in Chinese population is really necessary.
Authors: Alexander P Drew; Anthony N Cutrupi; Megan H Brewer; Garth A Nicholson; Marina L Kennerson Journal: Hum Genet Date: 2016-08-03 Impact factor: 4.132
Authors: Isabella Fogh; Antonia Ratti; Cinzia Gellera; Kuang Lin; Cinzia Tiloca; Valentina Moskvina; Lucia Corrado; Gianni Sorarù; Cristina Cereda; Stefania Corti; Davide Gentilini; Daniela Calini; Barbara Castellotti; Letizia Mazzini; Giorgia Querin; Stella Gagliardi; Roberto Del Bo; Francesca L Conforti; Gabriele Siciliano; Maurizio Inghilleri; Francesco Saccà; Paolo Bongioanni; Silvana Penco; Massimo Corbo; Sandro Sorbi; Massimiliano Filosto; Alessandra Ferlini; Anna M Di Blasio; Stefano Signorini; Aleksey Shatunov; Ashley Jones; Pamela J Shaw; Karen E Morrison; Anne E Farmer; Philip Van Damme; Wim Robberecht; Adriano Chiò; Bryan J Traynor; Michael Sendtner; Judith Melki; Vincent Meininger; Orla Hardiman; Peter M Andersen; Nigel P Leigh; Jonathan D Glass; Daniel Overste; Frank P Diekstra; Jan H Veldink; Michael A van Es; Christopher E Shaw; Michael E Weale; Cathryn M Lewis; Julie Williams; Robert H Brown; John E Landers; Nicola Ticozzi; Mauro Ceroni; Elena Pegoraro; Giacomo P Comi; Sandra D'Alfonso; Leonard H van den Berg; Franco Taroni; Ammar Al-Chalabi; John Powell; Vincenzo Silani Journal: Hum Mol Genet Date: 2013-11-20 Impact factor: 6.150
Authors: Martin R Turner; Orla Hardiman; Michael Benatar; Benjamin R Brooks; Adriano Chio; Mamede de Carvalho; Paul G Ince; Cindy Lin; Robert G Miller; Hiroshi Mitsumoto; Garth Nicholson; John Ravits; Pamela J Shaw; Michael Swash; Kevin Talbot; Bryan J Traynor; Leonard H Van den Berg; Jan H Veldink; Steve Vucic; Matthew C Kiernan Journal: Lancet Neurol Date: 2013-03 Impact factor: 44.182
Authors: Patrick N Cunningham; Zhiying Wang; Megan L Grove; Rhonda M Cooper-DeHoff; Amber L Beitelshees; Yan Gong; John G Gums; Julie A Johnson; Stephen T Turner; Eric Boerwinkle; Arlene B Chapman Journal: PLoS One Date: 2019-09-18 Impact factor: 3.240