rs3767155
This is a intron variant variant in the ALPL gene.
▶Research that mentions this SNP (2)
▶No significant association between genetic polymorphisms in the TNAP gene and ankylosing spondylitis in the Chinese Han populationAssociationN=867Ning Cheng et al.(2009)· Rheumatology International
This case-control and family-based association study investigated whether three TNAP gene polymorphisms (rs3767155, rs3738099, rs1780329) are associated with ankylosing spondylitis (AS) in 353 Chinese Han AS patients and 514 controls, plus 57 families. The study found no significant association between any of the three TNAP variants and AS susceptibility, either individually or as haplotypes, contradicting a prior Canadian population study that reported TNAP association with AS.
▶Association of a TNAP haplotype with ankylosing spondylitisAssociationN=867Hing Wo Tsui et al.(2007)· Arthritis & Rheumatism
A case-control and family-based association study investigating the role of three TNAP gene polymorphisms (rs3767155, rs1780329, rs3738099) in ankylosing spondylitis (AS) susceptibility in Chinese Han populations. The study involved 353 AS patients and 514 controls from Eastern and Southeastern China, plus 57 pedigrees. No significant associations were found between any individual SNPs, genotypes, haplotypes, or AS risk in either population (all p > 0.05), contradicting a prior Canadian study and suggesting TNAP does not play a major role in AS susceptibility in Chinese populations.
About ALPL
This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects. [provided by RefSeq, Oct 2015]
View all ALPL variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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