WEEKLY UPDATE: December 5, 2019
SUMMARY: Discovery of 156 genetic variants associated with a mosaic loss of chromosome Y.
OVERVIEW: Our DNA is packed into 23 pairs of chromosomes including two ‘sex chromosomes’. Females have two X chromosomes, while males have one Y and one X chromosome. In males, loss of the Y chromosome in some cells of the body, particularly white blood cells, has been previously associated with multiple medical conditions including various cancers, autoimmune disease, diabetes, and cardiovascular disease. To determine genetic factors that may predispose a male to loss of chromosome Y, this study examined the genomes of over 750,000 males of European and Japanese ancestry. A detectable loss of the Y chromosome was present in approximately 20% of male study participants. The study identified 156 variants, 137 of which are novel, that together explain more than 30% of the heritability of Y chromosome loss. While the loss of chromosome Y can occur only in males, the study also found an association between the discovered variants and breast cancer risk in females and well as delayed menopause onset.
DID YOU KNOW? Smoking has previously been identified as one of the biggest non-genetic risk factors for loss of chromosome Y. [SOURCE]
ANALYZED VARIANTS: rs17758695, rs2887399, rs59633341, rs381500, rs1849209, rs1052053, rs11082396, rs6089050, rs78378222, rs9400267, rs536088596, rs2280548, rs72698720, rs13062095, rs73721669, rs16982394, rs118035610, rs7129527, rs10456506, rs56116444, rs3743503, rs111725880, rs609018, rs7271671, rs72899729, rs113250338, rs10048745, rs2979469, rs62618742, rs4714550, rs73176930, rs35355140, rs34778241, rs12695310, rs35979828, rs10849448, rs17255991, rs2293661, rs11769630, rs4981287, rs11679328, rs758275723, rs9844706, rs568868093, rs79966604, rs36117426, rs291699, rs116483731, rs36084354, rs13063578, rs7781977, rs621940, rs199525754, rs74911261, rs186430430, rs1805419, rs3811444, rs74845559, rs9939347, rs4669037, rs11062924, rs710422, rs141777833, rs72955755, rs670180, rs7172615, rs3756364, rs575653337, rs538711822, rs2852780, rs200123937, rs76428106, rs73111522, rs2407797, rs2395902, rs1569419, rs117145034, rs6479226, rs1049612, rs34890930, rs9262570, rs12549737, rs392020, rs6731121, rs11177383, rs3761704, rs230533, rs739846, rs6924733, rs13141, rs76428668, rs760622583, rs1531842, rs218264, rs7223609, rs11642909, rs56795609, rs1926785, rs747692613, rs34087210, rs5757613, rs10305667, rs551319785, rs17064495, rs2527884, rs2688887, rs60808706, rs113736796, rs5914348, rs200113015, rs980381, rs11965885, rs769022853, rs541524196, rs2291119, rs2382230, rs4671127, rs7035770, rs372597211, rs57026767, rs71565940, rs561123020, rs2701539, rs60781426, rs2908986, rs6939093, rs7410534, rs458069, rs11258419, rs4288784, rs173913, rs56345976, rs9943081, rs478093, rs66700428, rs560646371, rs80036149, rs10831321, rs6020413, rs2651932, rs767987183, rs58355844, rs13286011, rs58222464