Gene: HTRA1

Alternate names for this Gene: ARMD7|CADASIL2|CARASIL|HtrA|L56|ORF480|PRSS11

Gene Summary: This gene encodes a member of the trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. It has also been suggested to be a regulator of cell growth. Variations in the promoter region of this gene are the cause of susceptibility to age-related macular degeneration type 7.

Gene is located in Chromosome: 10

Location in Chromosome : 10q26.13

Description of this Gene: HtrA serine peptidase 1

Type of Gene: protein-coding

rs2248799 in HTRA1 gene and Age related macular degeneration PMID 23577725 2013 Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.

PMID 23326517 2013 Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.

PMID 29346644 2018 Genome-wide analysis of disease progression in age-related macular degeneration.

rs772225907 in HTRA1 gene and CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 PMID 26063658 2015 Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.

rs113993969 in HTRA1 gene and Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy PMID 19387015 2009 Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.

PMID 24535794 2014 C to T transition at position 1108 (c.1108 C > T) in exon 6, causing stop codon formation (R370X) was seen in the HTRA1 gene in a homozygous state in the CARASIL patient whereas it was heterozygous in other healthy family members.

PMID 21482952 2011 A novel mutation in the HTRA1 gene causes CARASIL without alopecia.

PMID 22900900 2012 A novel mutation in the HTRA1 gene identified in Chinese CARASIL pedigree.

PMID 21115960 2010 A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population.

rs60401382 in HTRA1 gene and Cerebrovascular accident PMID 29531354 2018 Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

rs2268344 in HTRA1 gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs2284665 in HTRA1 gene and Exudative age-related macular degeneration PMID 28775256 2017 A genome-wide association study identified a novel genetic loci STON1-GTF2A1L/LHCGR/FSHR for bilaterality of neovascular age-related macular degeneration.

rs72834448 in HTRA1 gene and Systolic Pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

rs12571363 in HTRA1 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2284665 in HTRA1 gene and exudative macular degeneration PMID 28775256 2017 A genome-wide association study identified a novel genetic loci STON1-GTF2A1L/LHCGR/FSHR for bilaterality of neovascular age-related macular degeneration.