Doctor with red stethoscope, peripheral artery disease

Systemic Sclerosis (López-Isac, 2019)

WEEKLY UPDATE: November 9, 2019

STUDY TITLE: GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways

SUMMARY: Discovery of 13 novel genetic variants associated with the development of systemic sclerosis.

OVERVIEW:  Normally, the immune system works to protect the body against foreign pathogens such as bacteria and viruses. Autoimmune diseases occur when the immune system mistakenly attacks the body’s own cells and organs. One of the most debilitating autoimmune diseases is systemic sclerosis, which causes scarring of the skin and internal organs. Over time, this scarring slowly limits the organs’ ability to function, and is particularly detrimental to the lungs and the blood vessels. This study attempted to identify genetic variants that contribute to a person’s risk of developing of systemic sclerosis. By examining the genetic data of nearly 27,000 individuals of European ancestry, 27 genetic variants that significantly correlate with the risk of systemic sclerosis were identified. Of these, 13 are newly discovered. One identified variant was located in DDX6, a gene previously shown to play a role in the development of blood vessels.

DID YOU KNOW? Systemic sclerosis can cause skin hardening and joint stiffness, making movement extremely painful. To maintain flexibility, regular exercise is recommended. [SOURCE]

SAMPLE RESULTS:

ANALYZED VARIANTS: rs3821236, rs36073657, rs2736340, rs4853458, rs11117420, rs1378942, rs12155080, rs3792783, rs2056626, rs11217020, rs11724804, rs4076852, rs9884090, rs589446, rs2651804, rs3790566, rs2305743, rs633724, rs883770, rs1857066, rs16832798, rs230534, rs7355798, rs1005714, rs6598008, rs685985, rs2022449

ADDITIONAL RESOURCES:
Autoimmune Diseases
Systemic Sclerosis


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