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Aims:  Basement membranes (BMs) provide structural support to tissues, and also offer functional input to modulate cellular function. Type IV collagen is the most abundant protein in BMs. The collagen type IV alpha 1 chain (COL4A1) gene variant rs3783107 G &gt; A has previously been associated with intracranial aneurysms. We examined this polymorphism's association with cerebrovascular events in the Tampere adult population cardiovascular risk study, and also evaluated its association with hypertension, asthma, and long-term eczema in this population.  Materials and Methods:  A Finnish periodic health examination (PHE) cohort of 331 subjects with diagnosed hypertension and 440 normotensive controls was analyzed. DNA was extracted from buccal swabs. Genotyping was performed using KASP (competitive allelic-specific amplification). Prevalence of hypertension, asthma, or long-term eczema was obtained from the PHE. The incidences of cerebrovascular diseases and transient cerebral ischemic attacks was obtained from the National Hospital Discharge Registry (HILMO).  Results:  Even after adjusting for body mass index class and gender, subjects with the rs3783107 major genotype GG had significantly more hypertension (OR [odds ratio] = 1.38, 95% CI [confidence interval]: 1.01-1.87, p  = 0.043), asthma (OR = 2.78, 95% CI: 1.25-6.19, p  = 0.012), and eczema (OR = 2.00, 95% CI: 1.08-3.70, p  = 0.027) than those with the A allele. Furthermore, subjects with the GG genotype had significantly higher systolic ( p  = 0.026) and diastolic blood pressure ( p  = 0.013) that those with the A allele. Variant rs3783107 did not significantly associate with cerebrovascular events.  Conclusions:  Our findings suggest that there are genotype-phenotype associations between the COL4A1 gene variant rs3783107 and hypertension, asthma, and eczema.

genetic testing and molecular biomarkers

Association of the Collagen Type IV Alpha 1 Chain Gene rs3783107 GG Genotype with Hypertension, Asthma, and Eczema: The Tampere Adult Population Cardiovascular Risk Study