Multiple sclerosis

It is a degenerative disease of the central nervous system due to autoimmune destruction of the myelin sheath protecting nerve fibers. Mild cases may have long periods of remission, while severe cases can be very limiting due to permanent nerve damage. An overall incidence of 2.1 cases per 100,000 persons per year has been estimated.

It is not clear what causes the immune system to attack the myelin sheath, however, studies suggest that in addition to the genetic component, several external factors may contribute to trigger the disease.

  • Age: onset is most common between the ages of 20 and 40, although it can occur at any age.
  • Gender: women are 2-3 times more likely to present relapsing-remitting multiple sclerosis.
  • Viral infections: among them, Epstein-Barr is associated with an increased risk of multiple sclerosis.
  • Race: people especially of Northern European descent are at higher risk compared to those of Asian, African or Native American descent.
  • Climate: more common in countries with temperate climates such as Europe, Canada, northern United States or southeastern Australia.
  • Vitamin D: lower levels of vitamin D and sun exposure are associated with increased risk.
  • Other autoimmune disorders: thyroid disease, pernicious anemia, psoriasis, type 1 diabetes or inflammatory bowel disease increase the risk.
  • Smoking: smokers have an increased risk of relapsing-remitting multiple sclerosis.
  • Childhood obesity: individuals with obesity during adolescence would present an increased risk.

Symptoms

Multiple sclerosis (MS) can cause a wide range of symptoms and affect any part of the body. Each person is affected differently depending on the location of the affected nerve fibers. Symptoms are unpredictable, sometimes developing and worsening steadily, while at other times they come and go. Periods when symptoms worsen are known as relapses while those when they improve or disappear are known as remissions.

Most people with MS have only a few of these symptoms, which are the most common:

  • Fatigue, numbness, tingling, pain.
  • Muscle spasms, stiffness and weakness.
  • Tremors, lack of coordination or unsteady gait, mobility problems.
  • Speech and swallowing difficulties.
  • Problems with thinking, learning and planning.
  • Depression and anxiety.
  • Vision, sexual, urinary, bowel problems.
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Prevention

There are no effective preventive measures since the causes that trigger the autoimmune attack against the central nervous system are unknown. However, as in almost all pathologies, there are certain recommendations that could be useful, mainly related to a healthy lifestyle. Quitting smoking, eating a healthy diet low in saturated fats, keeping stress levels low and exercising regularly. In addition, sun exposure and supplementing vitamin D intake if necessary are recommended.

Number of observed variants

13.5 million variants

Number of risk loci

190 loci

Genes analyzed

ABI3BP AFF1 AHI1 ALPK2 ANKRD55 ATXN1 BACH2 BATF BATF3 BCL6 C1orf52 CARD11 CBLB CCR4 CD226 CD28 CD37 CD40 CD58 CD6 CD86 CENPO CEP57 CHRNA9 CHST12 CLCN6 CLEC16A CLEC2D CMC1 CSF2RB CTSH CXCR4 CXCR5 CYP24A1 DIPK1A EGR2 ELMO1 EOMES EPS15L1 ERG ETS1 ETV7 EVI5 FCRL3 FOXP1 GATA3 GFI1 GNG2 GPR183 GPR65 GRAP2 HDAC1 HDGFL2 HHEX HOXA1 ICAM3 IFNGR2 IKZF1 IKZF3 IL12A IL12B IL22RA2 IL2RA IL7R INAVA INTS8 IQCB1 IRF5 IRF8 JADE2 JAK1 JARID2 JAZF1 KCNRG KEAP1 KPNB1 LBH LDLR LEF1 LPIN3 LPP LRRC34 MAF MALT1 MAP3K14 MAPK1 MCM9 MERTK MMEL1 MPV17L2 MYB MYBPC3 MYC NCF4 NDFIP1 NLRC5 NR1D1 ODF3B OLIG3 OS9 PEX13 PHACTR2 PHGDH PHLDB1 PITPNM2 PKIA PLAU PLEC PLEK PLXNC1 POU5F1B PPIF PRDX5 PRR5L PTGER4 PUS10 PVR RGS1 RGS14 RMI2 RND3 RRAS2 RREB1 RUNX3 SAE1 SANBR SATB1 SCNN1A SH2B3 SLAMF1 SLAMF7 SLC25A19 SLC2A4RG SLC30A7 SLC9A8 SLC9B1 SOCS1 SOX8 SP140 SPRED2 STAT3 STAT4 SYDE2 SYPL1 TAGAP TBX6 TCF7 TENT4A TET2 TGFBR3 THEMIS TIMMDC1 TMA16 TNFAIP3 TNFAIP8 TNFRSF1A TNFRSF25 TNFSF14 TNIP3 TOX2 TRAF3 TRIB2 TRIM14 TSGA10IP TXK UBASH3B UPK2 VANGL2 VMP1 WWOX ZBTB38 ZBTB7B ZC3HAV1 ZFP36L1 ZFP36L2 ZNF438 ZNF746 ZNF774 ZNHIT3 ZPBP ZPLD1

Bibliography

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