نتایج جستجو برای: gene cluster haplotype

تعداد نتایج: 1321874  

Journal: :Human molecular genetics 2002
Idan Menashe Orna Man Doron Lancet Yoav Gilad

We investigated the population differences in patterns of single nucleotide polymorphisms (SNPs) for a 400 kb olfactory receptor (OR) gene cluster on human chromosome 17p13.3. Samples were drawn from 35 individuals, of four different ethnogeographical origins: Pygmies, Bedouins, Yemenite Jews and Ashkenazi Jews. Of the 74 SNPs identified, two segregated between pseudogenized and intact ORs, whi...

Journal: :Alcoholism, clinical and experimental research 2011
Jixia Liu Zhifeng Zhou Colin A Hodgkinson Qiaoping Yuan Pei-Hong Shen Connie J Mulligan Alex Wang Rebecca R Gray Alec Roy Matti Virkkunen David Goldman Mary-Anne Enoch

BACKGROUND Ethanol is metabolized by 2 rate-limiting reactions: alcohol dehydrogenases (ADH) convert ethanol to acetaldehyde that is subsequently metabolized to acetate by aldehyde dehydrogenases (ALDH). Approximately 50% of East Asians have genetic variants that significantly impair this pathway and influence alcohol dependence (AD) vulnerability. We investigated whether variation in alcohol m...

2014
Su Kang Kim Young Ock Kim Byung-Cheol Lee Koo Han Yoo Joo-Ho Chung

PURPOSE Inflammation and infection have been associated with the pathogenesis of benign prostatic hyperplasia (BPH). Toll-like receptors (TLRs) play key roles in the innate immune system and initiate the inflammatory response to foreign pathogens. We investigated the relationship between TLR10-1-6 gene cluster polymorphisms and BPH. METHODS We genotyped four promoter single nucleotide polymor...

2011
Fabiola Del Greco M. Cristian Pattaro Andreas Luchner Irene Pichler Thomas Winkler Andrew A. Hicks Christian Fuchsberger Andre Franke Scott A. Melville Annette Peters H. Erich Wichmann Stefan Schreiber Iris M. Heid Michael Krawczak Cosetta Minelli Christian J. Wiedermann Peter P. Pramstaller

High blood concentration of the N-terminal cleavage product of the B-type natriuretic peptide (NT-proBNP) is strongly associated with cardiac dysfunction and is increasingly used for heart failure diagnosis. To identify genetic variants associated with NT-proBNP level, we performed a genome-wide association analysis in 1325 individuals from South Tyrol, Italy, and followed up the most significa...

2017
Tze Hau Lam Meixin Shen Matthew Zirui Tay Ee Chee Ren

The control of gene regulation within the major histocompatibility complex (MHC) remains poorly understood, despite several expression quantitative trait loci (eQTL) studies revealing an association of MHC gene expression with independent tag-single nucleotide polymorphisms (SNPs). MHC haplotype variation may exert a greater effect on gene expression phenotype than specific single variants. To ...

Journal: :PLoS ONE 2008
Ching Ouyang David D. Smith Theodore G. Krontiris

Variation in gene expression may give rise to a significant fraction of inter-individual phenotypic variation. Studies searching for the underlying genetic controls for such variation have been conducted in model organisms and humans in recent years. In our previous effort of assessing conserved underlying haplotype patterns across ethnic populations, we constructed common haplotypes using SNPs...

Journal: :Twin research and human genetics : the official journal of the International Society for Twin Studies 2013
Shani Stuart Bridget H Maher Heidi Sutherland Miles Benton Astrid Rodriguez Rod A Lea Larisa M Haupt Lyn R Griffiths

Migraine is classified by the World Health Organization (WHO) as being one of the top 20 most debilitating diseases. According to the neurovascular hypothesis, neuroinflammation may promote the activation and sensitisation of meningeal nociceptors, inducing the persistent throbbing headache characterized in migraine. The tumor necrosis factor (TNF) gene cluster, made up of TNFα, lymphotoxin α (...

2013
Cristian Fong María Alejandra Lizarralde-Iragorri Diana Rojas-Gallardo Guillermo Barreto

Sickle cell anemia is a genetic disease with high prevalence in people of African descent. There are five typical haplotypes associated with this disease and the haplotypes associated with the beta-globin gene cluster have been used to establish the origin of African-descendant people in America. In this work, we determined the frequency and the origin of haplotypes associated with hemoglobin S...

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