Mosaic Loss of Chromosome Y (Terao, 2019)

STUDY TITLE: GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation

SUMMARY: Identification of 46 genetic variants associated with mosaic loss of chromosome Y (mLOY).

DESCRIPTION: Cells in the human body store genetic information in 23 pairs of chromosomes. mLOY is a male-specific condition characterized by the loss of chromosome Y by some cells. mLOY has been linked to various medical conditions, including cancer, and is most commonly observed in the white blood cells of ageing men. This genome-wide association study analyzed the genetic data of 95,380 Japanese men to better understand the genetic factors that contribute to this condition. The study discovered 46 genetic variants of which 35 are novel, and collectively these variants explain an estimated 9% of the heritability of mLOY. Many of the identified genetic variants are near genes that are active in blood stem cells.

DID YOU KNOW? Studies have shown that smoking may significantly increase the risk of mosaic loss of chromosome Y. There is good news for smokers looking to quit – the same research showed that previous smokers were not any more likely to have Y chromosome loss than never smokers. [SOURCE]

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mLOY-ASSOCIATED VARIANTS: rs56116444, rs80277818, rs2842873, rs72698721, rs59543286, rs4709819, rs227079, rs4721217, rs2237896, rs78997619, rs55727837, rs34324, rs11769630, rs4681200, rs4683900, rs10849448, rs728739, rs871134, rs35355140, rs138423884, rs34468831, rs10948011, rs9921295, rs17049722, rs11251, rs77406149, rs2646425, rs2811487, rs1859259, rs12668837, rs34778241, rs2853677, rs9299129, rs527504, rs77874075, rs10692222, rs548509555, rs117587217, rs201753350, rs12225799, rs79058858, rs74843651, rs189309686, rs2804301, rs2979469

Sex Chromosomes
Hematopoietic Stem Cell

WEEKLY UPDATE: October 24, 2019

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